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Sample records for meckel diverticulum

  1. Meckel's diverticulum

    MedlinePlus

    ... to remove the diverticulum if bleeding develops. The segment of small intestine that contains the diverticulum is ... LS, Brandt LJ, eds. Sleisenger & Fordtran's Gastrointestinal and Liver Disease . 9th ed. Philadelphia, PA: Elsevier Saunders; 2010: ...

  2. Meckel diverticulum in exomphalos minor

    PubMed Central

    Sohn, Hee Ju; Park, Kwi-Won; Lee, Na Mi; Kim, Mi-Kyoung

    2016-01-01

    A congenital hernia into the base of the umbilical cord is known as an exomphalos and when the size of the defect is 5 cm or less and containing only bowel, it is called as exomphalos minor. We present a case of a newborn with an exomphalos minor within a Meckel diverticulum. He underwent surgical resection of the Meckel diverticulum and repair of the abdominal wall defect. To our knowledge, this is the first reported case of Meckel diverticulum in an exomphalos minor in Korea. PMID:27478815

  3. Intestinal obstruction due to meckel's diverticulum: a rare presentation.

    PubMed

    Srinivas, G N S; Cullen, P

    2007-01-01

    Meckel's diverticulum occurs in about 1-3% of general population. The majority of them are asymptomatic and incidentally found at laparotomy. The most common complication due to Meckel's diverticulum in adults is intestinal obstruction. The frequency of symptoms decreases with age. Enteroliths are rarely formed in a Meckel's diverticulum and are known to cause intestinal obstruction. These should be considered in the differential diagnosis of radioopaque shadows in the plain abdominal films. We describe a rare presentation of Meckel's diverticulum in an elderly woman. PMID:17405602

  4. Angioembolisation of a Bleeding Meckel's Diverticulum.

    PubMed

    Liu, Xuandao; Chan, Dedrick Kok-Hong; Tan, Ker-Kan

    2015-12-01

    We describe the diagnosis of an adult who presented with hematochezia. This was investigated and found to be from a bleeding Meckel's diverticulum. As this condition is rare in adults, there is no consensus regarding the optimal mode of management. We propose the use of angioembolisation in the diagnostic and therapeutic management of this condition. Our case showed that this strategy is indeed feasible and can achieve good short-term control, allowing for definitive surgery in an elective setting. PMID:26373773

  5. Small Bowel Obstruction due to Mesodiverticular Band of Meckel's Diverticulum: A Case Report

    PubMed Central

    Sumer, Aziz; Kemik, Ozgur; Olmez, Aydemir; Dulger, A. Cumhur; Hasirci, Ismail; Iliklerden, Umit; Kisli, Erol; Kotan, Cetin

    2010-01-01

    Meckel's diverticulum is the most common congenital anomaly of the small intestine. Common complications related to a Meckel's diverticulum include haemorrhage, intestinal obstruction, and inflammation. Small bowel obstruction due to mesodiverticular band of Meckel's diverticulum is a rare complication. Herein, we report the diagnosis and management of a small bowel obstruction occurring due to mesodiverticular band of a Meckel's diverticulum. PMID:20814563

  6. Meckel's diverticulum and ectopic epithelium: Evaluation of a complex relationship

    PubMed Central

    Burjonrappa, Sathyaprasad; Khaing, Phue

    2014-01-01

    Introduction: Meckel's diverticulum is the most common congenital anomaly of the gastrointestinal tract. Currently, for any incidentally discovered Meckel's diverticulum, the management approach is based on weighing the statistical odds of future complications against the risks of a diverticulectomy. Materials and Methods: The temporal relationship between age at Meckel's diverticulectomy and the presence of ectopic epithelium was evaluated in our series. A meta-analysis of all reported recent literature on this condition was subsequently performed to evaluate the strength of the relationship between ectopic epithelium and symptomatic Meckel's diverticulum. Results: There was a paucity of ectopic epithelium in Meckel's diverticulectomy specimens in infants operated on at less than 1 year of age. Having two or more ectopic epithelia in a diverticulum does not appear to carry an additive risk for complications. The meta-analysis confirmed that ectopic epithelium was the most significant factor that influenced surgical intervention in all series of Meckel's diverticulum. Conclusion: The relationship between ectopic epithelium and the development of symptomatic Meckel's diverticulum is complex. Further understanding of the development of ectopic rests in the diverticulum will facilitate elucidating the pathophysiology in symptomatic cases. PMID:24741211

  7. Meckel's diverticulum and bowel obstruction due to phytobezoar: a case report.

    PubMed

    Gasparella, Marco; Marzaro, Maurizio; Ferro, Mario; Benetton, Carlo; Ghirardo, Vittorina; Zanatta, Cinzia; Zoppellaro, Francesco

    2016-01-01

    Meckel's diverticulum is a common anomaly of the gastrointestinal tract. The most common complications of Meckel's diverticulum are inflammation, bleeding and obstruction. We present a 12-year-old boy with bowel obstruction due to phytobezoar in a Meckel's diverticulum. We describe diagnostic difficulties and our surgery approach comparing it to the literature. PMID:27345602

  8. Radiologist's perspective for the Meckel's diverticulum and its complications

    PubMed Central

    Kotha, V K; Saboo, S S; Shanbhogue, A K P; Virmani, V; Marginean, E C; Menias, C O

    2014-01-01

    The Meckel's diverticulum is the commonest congenital anomaly of the gastrointestinal tract, often presenting with complications such as gastrointestinal bleeding, intussusception, bowel obstruction and diverticulitis, which are often misdiagnosed. Imaging plays an important role in the early diagnosis and characterization of these conditions and is very helpful in decision making. The Meckel's diverticulum and its complications have myriad presentations and appearances on various imaging modalities. Thus, sound knowledge of the anatomy, embryology, clinical presentation, imaging characteristics and complications is crucial to the practice of abdominal imaging. We present a review of the literature and current radiological practices in the diagnosis and management of the Meckel's diverticulum and its various complications with special emphasis on the imaging of various complications, mimickers and pathological correlation. PMID:24611767

  9. Inverted Meckel's diverticulum preoperatively diagnosed using double-balloon enteroscopy.

    PubMed

    Takagaki, Kosuke; Osawa, Satoshi; Ito, Tatsuhiro; Iwaizumi, Moriya; Hamaya, Yasushi; Tsukui, Hiroe; Furuta, Takahisa; Wada, Hidetoshi; Baba, Satoshi; Sugimoto, Ken

    2016-05-01

    An inverted Meckel's diverticulum is a rare gastrointestinal congenital anomaly that is difficult to diagnose prior to surgery and presents with anemia, abdominal pain, or intussusception. Here, we report the case of 57-year-old men with an inverted Meckel's diverticulum, who was preoperatively diagnosed using double-balloon enteroscopy. He had repeatedly experienced epigastric pain for 2 mo. Ultrasonography and computed tomography showed intestinal wall thickening in the pelvis. Double-balloon enteroscopy via the anal route was performed for further examination, which demonstrated an approximately 8-cm, sausage-shaped, submucosal tumor located approximately 80 cm proximal to the ileocecal valve. A small depressed erosion was observed at the tip of this lesion. Forceps biopsy revealed heterotopic gastric mucosa. Thus, the patient was diagnosed with an inverted Meckel's diverticulum, and single-incision laparoscopic surgery was performed. This case suggests that an inverted Meckel's diverticulum should be considered as a differential diagnosis for a submucosal tumor in the ileum. Balloon-assisted enteroscopy with forceps biopsy facilitate a precise diagnosis of this condition. PMID:27158212

  10. Laparoscopic excision of Meckel's diverticulum in children: what is the current evidence?

    PubMed

    Chan, Kin Wai Edwin; Lee, Kim Hung; Wong, Hei Yi Vicky; Tsui, Siu Yan Bess; Wong, Yuen Shan; Pang, Kit Yi Kristine; Mou, Jennifer Wai Cheung; Tam, Yuk Him

    2014-11-01

    Complications aroused from Meckel's diverticulum tend to developed in children. Children presented with abdominal pain, intestinal obstruction, intussusception or gastrointestinal bleeding may actually suffered from complicated Meckel's diverticulum. With the advancement of minimally invasive surgery (MIS) in children, the use of laparoscopy in the diagnosis and subsequent laparoscopic excision of Meckel's diverticulum has gained popularity. Recently, single incision laparoscopic surgery (SILS) has emerged as a new technique in minimally invasive surgery. This review offers the overview in the development of MIS in the management of children suffered from Meckel's diverticulum. The current evidence in different laparoscopic techniques, including conventional laparoscopy, SILS, the use of special laparoscopic instruments, intracorporeal diverticulectomy and extracorporeal diverticulectomy in the management of Meckel's diverticulum in children were revealed. PMID:25386065

  11. Strangulated internal hernia by giant Meckel diverticulum presented as acute appendicitis

    PubMed Central

    Fuentes-Diaz, Jhonny Mauricio; Trujillo-Vasquez, Camilo Andrés; Parra-Vargas, Ana María; Rovira-Chaves, Andrea Sofía; Tinoco-Guzman, Laura Viviana; Garcia-Garcia, Johana Marcela

    2015-01-01

    Introduction Internal hernia due to a Meckel diverticulum is a common presentation of bowel obstruction mostly seen in pediatric population. However, it has been stated that among 5% of the patients had a giant Meckel diverticulum (defined as a Meckel diverticulum with increased dimensions than the ones commonly found), being this condition very unusual. Presentation of case We presented a 19 year old male with acute abdominal pain suggestive of appendicitis. During appendectomy we discovered ischemic and necrotic signs in a bowel segment, leading us to perform a laparotomy that revealed a portion of ischemic and necrotic jejunum, and another bowel segment with a strong adherence to the mesentery root that created an internal hernia. The internal hernia was reduced and the injured bowel portions were resected. Necrotic bowel samples were sent to the pathology department who posteriorly reported a giant Meckel diverticulum. The patient had an excellent recovery after procedure. Discussion After searching in PubMed for a similar association between Meckel diverticulum and internal hernia, we found few cases that reported a giant Meckel diverticulum and a low occurrence with internal hernias making our case not so common to find. Conclusion We concluded that a giant Meckel diverticulum in association with mesenteric defects producing internal hernias are not common pathologies to find together in a patient as our research and case suggest. PMID:26117448

  12. Pediatric Meckel's Diverticulum: Report of 208 Cases and Review of the Literature.

    PubMed

    Francis, Adero; Kantarovich, Diana; Khoshnam, Nasim; Alazraki, Adina L; Patel, Binita; Shehata, Bahig M

    2016-01-01

    We report a review of 208 cases of Meckel's diverticulum among pediatric patients from one single institution. One of the aims of this report is to highlight the different diagnostic modalities of Meckel's diverticulum since a majority of cases is undiagnosed prior to surgery. Our review shows 58 cases containing gastric and/or pancreatic heterotopic tissue, including two unique cases. The first case reported is a desmoid tumor arising at the tip of diverticulum, a case that, to our knowledge, has not been previously reported. The second case involves a female patient appearing with an acute abdomen thought to be appendicitis, instead surgery revealed a diverticulum arising from the ileum. The cause of acute abdomen was due to gonococcal infection. In conclusion, we hope that this large series of Meckel's cases will enrich our readers on the differential diagnosis and preoperative diagnostic techniques of Meckels' diverticulum. PMID:27064958

  13. [A case of association of cyst of the urachus and Meckel's diverticulum].

    PubMed

    de la Taille, A; Cuvillier, X; Donnaint, A; Biserte, J; Mazeman, E

    1994-01-01

    Meckel diverticulum and residual urachus have a common embryological origin: the yolk sac at the eight day of life. Their course is independent but the underlying mechanisms are identical. Meckel diverticulum occurs in 2 to 4% of the population. Clinical signs are often absent and complications occur in 4% of the cases (haemorrhage, occlusion, inflammation, and rarely tumoural formation). Residual urachus occurs as a cystic formation, a sinus or a fistulization and may degenerate into adenocarcinoma of severe prognosis. The reported association has not apparently been reported previously in the literature. Due to the risk of cancerization, it is suggested that residual urachus should be searched in cases of Meckel diverticulum. PMID:7730673

  14. Incarceration of Meckel's diverticulum in a left paraduodenal Treitz' hernia.

    PubMed

    Gerdes, Christoph; Akkermann, Oke; Krüger, Volker; Gerdes, Anna; Gerdes, Berthold

    2015-08-16

    Meckel's diverticula incarcerated in a hernia were first described anecdotally by Littré, a French surgeon, in 1700. Meckel, a German anatomist and surgeon, explained the pathophysiology of this disease 100 years later. In addition, a congenital paraduodenal mesocolic hernia, known as a Treitz hernia, is a rare cause of small bowel obstruction. These hernias are caused by an abnormal rotation of the primitive midgut, resulting in a right or left paraduodenal hernia. We treated a patient presenting with pain and diagnosed extraluminal air in the abdomen after a computed tomography examination. We performed a laparotomy and found a combination of these two seldomly occurring congenital diseases, incarceration and perforation of Meckel's diverticulum in a left paraduodenal hernia. We performed a thorough review of the literature, and this report is the first to describe a patient with a combination of these two rare conditions. We considered the case regarding the variety of terminology as well as the treatment options of these conditions. PMID:26301234

  15. Rescue Radioguided Laparoscopy Surgery for Meckel's Diverticulum: Technical Notes.

    PubMed

    Deus, Javier; Millera, Alfonso; Andrés, Alejandro; Prats, Enrique; Suarez, Manuel; Gil, Ismael; Salcini, José Luis; Lahoz, Manuel; De Gregorio, Miguel Angel

    2015-06-01

    The extirpation of Meckel's diverticulum (MD) via conventional or laparoscopic surgery is the definitive treatment. However, certain circumstances may modify or alter this situation and require the application of exceptional measures.We report a case under our observation who previously had an exploratory abdominal laparotomy for a suspected MD; however, the findings were negative. At that time, the diagnosis was established based on low-level gastrointestinal bleeding and isotopic tests that confirmed the existence of the diverticulum. Given the findings of gamma-graphic exploration and the previous negative surgical exploration, a decision was made to remove the lesion by laparoscopic radioguided surgery.The patient underwent bilateral laparoscopic radioguided surgery using a gamma radiation detection probe. The exploration of the abdominal cavity noted the existence of the diverticulum about 60 to 70  cm from the ileocecal valve. In this way, it was possible to proceed with the resection of the bowel loop and perform an intracorporeal anastomosis termino lateral. The postoperative course was uneventful, and the patient was discharged on the fifth postoperative day.We believe that the combination of radioguided surgery and single photon emission computed tomography/computed tomography could be useful for treating lesions in locations that are surgically difficult because of the characteristics of the lesion itself or the peculiarities of an individual patient. PMID:26107668

  16. Spontaneous perforation of Meckel's diverticulum: a case report and review of literature.

    PubMed

    Farah, Robleh Hassan; Avala, Prude; Khaiz, Driss; Bensardi, Fatmazahra; Elhattabi, Khalid; Lefriyekh, Rachid; Berrada, Saad; Fadil, Abdelaziz; Zerouali, Najib Ouariti

    2015-01-01

    Meckel's diverticulum is the commonest congenital abnormality of the gastrointestinal tract. Hemorrhage, obstruction and inflammation are the three main categories of complications resulting from Meckel's diverticulum. Spontaneously perforation of Meckel's diverticulum is very rare and mimics acute appendicitis. We report a case of 26 year-old male, who presented since 5 days worsening abdominal pain predominantly in the right iliac fossa associated with high grade fever. On physical examination his abdomen was distended with guarding and rigidity. A provisional diagnosis of appendiculaire peritonitis was made. Our patient had an emergency laparotomy, where a perforated Meckel's diverticulum and advanced peritonitis were discovered. A diverticulectomy with ileostomy were performed. Heterotopic mucosa of diverticulitis was confirmed on histopathology. The patient made an uneventful recovery postoperatively and ileostomy reconstruction was done two months later. This case report is an interesting and unusual case of Meckel's diverticulum complications and highlights the importance of considering Meckel's diverticulum as a differential diagnosis in every patient presenting with acute abdomen. PMID:26175810

  17. Incidental Finding of a Neuroendocrine Tumor Arising from Meckel Diverticulum During Hernia Repair - A Case Report and Literature Review.

    PubMed

    Bacalbasa, Nicolae; Costin, Radu; Orban, Carmen; Iliescu, Laura; Hurjui, Ioan; Hurjui, Marcela; Niculescu, Nicoleta; Cristea, Mirela; Balescu, Irina

    2016-04-01

    Meckel diverticulum is the most common abnormality of the gastrointestinal tract arising from an incomplete obliteration of the vitelline duct during the intrauterine life. Although tumor development in Meckel diverticulum is not a common situation, it can occur due to the persistence of cellular islets with gastric, pancreatic or intestinal origin. The presence of a neuroendocrine tumor arising from Meckel diverticulum is even scarcer. We present the case of a 59-year-old patient in whom a Meckel diverticulum was found during surgery for inguinal hernia; the histopathological and immunohistochemical studies revealed the presence of a well-differentiated neuroendocrine tumor with low mitotic index. PMID:27069171

  18. [The secret of the pyramids ... or calcifications in Meckel's diverticulum].

    PubMed

    Desmonts, F; Convard, J P; Capdeville, R; Berthelot, G

    1987-01-01

    The authors present the case of a 59 year-old patient with numerous stratified stercoliths within a large Meckel's diverticulum. An abdominal X-ray without contrast material, done while the patient was in acute abdominal pain showed a liquid-density mass. The diagnosis was considered because of the presence, within the mass, of a fluid level and several unusual calcifications. Ultrasound ruled out a gall-bladder or urinary origin. Surgical excision of the mass confirmed the diagnosis; the X-ray of the specimen allowed a comparison with the previous abdominal X-rays. The authors review the literature on the subject and suggest a gamut for the differential diagnosis of stratified calcifications of the abdomen. PMID:3612618

  19. Morphological studies on Meckel's diverticulum in geese (Anser anser domesticus).

    PubMed

    Besoluk, K; Eken, E; Boydak, M; Tipirdamaz, S

    2002-10-01

    This study was carried out to reveal the morphological features of Meckel's diverticulum (MD) in geese. For this purpose, a total of 36 adult healthy geese of both sexes, 50-52 weeks of age, were used. The mean weight of MD in male was found to be significantly larger than that of female. It was located a little distal to the midpoint of the small intestine in both sexes. It had a lot of lymphoid tissues, the simple columnar epithelium and a small number of crypts, and was a lack of villi, and its muscularis mucosae was very thin. Results from this study are thought to throw light on future studies on MD and proper diagnosis of pathological disorders related to it, and to contribute considerably to the present anatomical knowledge on MD in geese. PMID:12484422

  20. Small intestinal ulceration secondary to carcinoid tumour arising in a Meckel's diverticulum.

    PubMed Central

    McCluggage, W G; McConnell, L; Sloan, J M; Ellis, P K; Irwin, S T

    1999-01-01

    A solitary small intestinal ulcer associated with a carcinoid tumour in a nearby Meckel's diverticulum was found in a 77 year old man presenting with massive rectal bleeding. Angiography and a radioisotope study localised the bleeding to the ileum. At operation, the Meckel's diverticulum was identified, with bleeding from an ulcer just distal to it. Pathological examination revealed a small carcinoid tumour confined to the Meckel's diverticulum. Close to the opening of the diverticulum, within the ileum, a well demarcated ulcer was present. Histology showed a non-specific ulcer which eroded a large blood vessel. This is the first documented occurrence of solitary small intestinal ulceration in association with a carcinoid tumour. Carcinoid tumour should be added to the list of possible causes of small intestinal ulceration. The ulceration may be secondary to release of cytokines by the tumour. Images PMID:10343617

  1. Synchronous colorectal adenocarcinoma and gastrointestinal stromal tumor in Meckel's diverticulum; an unusual association

    PubMed Central

    Kosmidis, Christopher; Efthimiadis, Christopher; Levva, Sofia; Anthimidis, George; Baka, Sofia; Grigoriou, Marios; Tzeveleki, Ioanna; Masmanidou, Maria; Zaramboukas, Thomas; Basdanis, Georgios

    2009-01-01

    Background Coexistence of gastrointestinal stromal tumor with synchronous or metachronous colorectal cancer represents a phenomenon with increasing number of relative reports in the last 5 years. Synchronous occurence of GISTs with other gastrointestinal tumors of different histogenesis presents a special interest. We herein report a case of GIST in Meckel's diverticulum synchronous with colorectal adenocarcinoma. Case presentation A 69 year old man, presented with abdominal distension and anal bleeding on defecation. Colonoscopy revealed colorectal cancer and a low anterior resection was performed, during which a tumor in Meckel's diverticulum was discovered. Histologic examination revealed GIST in Meckel's diverticulum and a rectosigmoid adenocarcinoma. Conclusion Whenever GIST is encountered, the surgeon should be alert to recognize a possible coexistent tumor with different histological origin. Correct diagnosis of synchronous tumors of different origin is the cornerstone of treatment. PMID:19309498

  2. Meckel's diverticulum with intussusception in a 5-year-old patient with Down's syndrome.

    PubMed

    Anwar, Mohammed Omer; Ahmed, Hamza Ibn; Al Hindi, Saeed; Al Omran, Yasser

    2014-01-01

    Meckel's diverticulum is understood to be the commonest congenital malformation within the gastrointestinal tract with a prevalence of 2%, as found on autopsy studies. Although many cases are asymptomatic, complications can occur including haemorrhage, diverticulitis, chronic ulceration and intestinal obstruction. Intussusception is also a complication, but extremely rare. We present a rare case of Meckel's diverticulum causing intussusception, which was surgically resolved, in a 5-year-old girl. Our aim through this case report is to generate greater awareness of this complication and to provide some potential guidance towards its treatment. PMID:25540213

  3. Small bowel intussusception with the Meckel's diverticulum after blunt abdominal trauma: a case report

    PubMed Central

    Benjelloun, El Bachir; Ousadden, Abdelmalek; Ibnmajdoub, Karim; Mazaz, Khalid; Taleb, Khalid Ait

    2009-01-01

    Intussusception with the Meckel's diverticulum is a rare but well-known cause of small bowel obstruction in the adult. After blunt abdominal trauma, intussusception is exceedingly rare and has been reported previously only in few cases. We present a case of a previously healthy 28-year-old man developing four days after blunt abdominal trauma signs of small bowel obstruction. Ileo-ileal intussusception was suggested by computed tomography. Exploration revealed ileo-ileal intussusception with Meckel's diverticulum. A diverticulectomy with small bowel resection was performed. PMID:19419572

  4. Bleeding Meckel's diverticulum diagnosed and treated by double-balloon enteroscopy

    PubMed Central

    Olafsson, Snorri; Yang, Julie T.; Jackson, Christian S.; Barakat, Mohamad; Lo, Simon

    2012-01-01

    Meckel's diverticulum (MD) is the most common congenital anomaly of the gastrointestinal (GI) tract. The diagnosis of symptomatic MD has been cumbersome. Several case reports been published regarding direct visualization of MD with double balloon enteroscopy (DBE); diagnosing a bleeding MD leading to surgical resection. We report the use of DBE for the treatment of a bleeding MD. PMID:23210023

  5. Meckel's diverticulum--a rare cause of intestinal obstruction in adults.

    PubMed

    Bălălău, C; Bacalbaşa, N; Motofei, I; Popa, Fl; Voiculescu, S; Scăunaşu, R V

    2015-01-01

    Although many people have Meckel's diverticulum, only some experience any symptoms, most under the age of 10. In adults it is usually asymptomatic but approximately 4% develop complications. Meckel's diverticulum is usually diagnosed in the first years of life and after that the risk of the complications decreases with increasing age, with no predictive factors for the development of complications. We describe the case of a 34-year-old man admitted in the emergency department with diffuse abdominal pain, nausea, flatulence and lack of transit for feces and gas. The patient had been previously operated for peritonitis due to a perforated ulcer. Clinical examination and paraclinical investigations (abdominal radiography and ultrasound) suggested the diagnosis of intestinal obstruction, probably produced by adhesions due to previous abdominal intervention. The diverticulum was resected using a linear stapler and the patient recovered without any complications. Small bowel obstruction due to Meckel's diverticulitis may be caused by entangled loop of small bowel around a fibrous cord, intussusception, volvulus, or incarceration within a hernia sac. The discovery of a Meckel's diverticulum complication in a mid thirties patient represented an intra-operatory surprise and is the peculiarity of the case. PMID:25970960

  6. [Comorbid Meckel's diverticulum and omphalomesenteric cyst evaluated by small bowel series under double-balloon enteroscopy: a case report].

    PubMed

    Tsuruta, Shinichi; Sumida, Yorinobu; Harada, Naohiko; Hata, Yoshitaka; Nakamuta, Makoto; Ikejiri, Koji; Momosaki, Masaya; Takahashi, Shunsuke; Hirahashi, Minako

    2016-04-01

    A 59-year-old man was referred to our hospital for examination of intermittent abdominal pain. Computed tomography scan showed a cystic lesion adjoining the ileum, and small bowel series demonstrated a small bowel diverticulum. Double-balloon enteroscopy (DBE) revealed a diverticulum in the ileum and a soft and smooth elevated lesion with a small hole at the base of the diverticulum. Small bowel series under DBE demonstrated that the cystic lesion communicated with the diverticulum through the small hole. The diagnosis was Meckel's diverticulum and an omphalomesenteric cyst. This is the first reported case of a Meckel's diverticulum and omphalomesenteric cyst communicating through a small hole without a fibrous ligament. In addition, precise evaluation was possible by small bowel series and DBE. PMID:27052394

  7. Small bowel obstruction due to phytobezoar formation within meckel diverticulum: CT findings

    SciTech Connect

    Frazzini, V.I. Jr.; English, W.J.; Bashist, B.; Moore, E.

    1996-05-01

    Intestinal obstruction due to a phytobezoar within a Meckel diverticulum is exceedingly rare, with only seven reported cases in the surgical literature. The most important precipitating factor is the ingestion of agents high in fiber and cellulose. Small bowel obstruction in all but one case was due to retrograde propagation of the bezoar into the small bowel lumen. We report the clinical and CT findings in such a patient following a vegetarian diet. 14 refs., 2 figs.

  8. Perforated Meckel's diverticulum in a very preterm baby revealed at birth.

    PubMed

    Borgi, Aida; Bouziri, Asma; Boujelbene, Nedia; Sghairoun, Nedia; Belhadj, Serra; Benjeballah, Najla

    2014-04-01

    Perforated Meckel's diverticulum (MD) in a preterm baby is very rare. We report a case of a very preterm baby, born at 29-week gestation, with a birth weight of 1400 g, admitted in the third hour of life to our intensive care unit (ICU) for respiratory distress syndrome with abdominal distention. An abdominal radiograph showed a pneumoperitoneum. Laparotomy revealed Meckel's perforation. The baby was discharged healthy at the age of 16 days. MD should be kept in mind as one cause of an acute abdomen in preterm neonates mimicking necrotizing enterocolitis. To our knowledge, our patient is the third reported case described in the literature and the first one revealed at birth. PMID:24328940

  9. Congenital diaphragmatic hernia, Meckel's diverticulum and malrotation in a 3-month-old infant.

    PubMed

    Basani, Laxman; Aepala, Roja; Reddy, B Madhu Mohan

    2016-01-01

    Congenital diaphragmatic hernia (CDH) is a common developmental anomaly that usually presents in the neonatal period. It is known to be associated with cardiac, renal, genital and chromosomal anomalies. Late presentation of CDH (beyond 1-month of age) is seen in 13% of the cases. Malrotation is reported in 42% of CDH cases. We report a case of a 3-month-old infant with concurrent CDH, Meckel's diverticulum and malrotation. This is the first case report of such an association in an infant. PMID:27251525

  10. Laparoscopic management of an axially torsed gangrenous Meckel's diverticulum in a child.

    PubMed

    Ahmed, Kotti; Hayet, Zitouni; Hamdi, Louati; Mahdi, Ben Dhaou; Mohamed, Jallouli; Riadh, Mhiri

    2016-01-01

    Meckel's diverticulum (MD) is the most common congenital anomaly of the gastrointestinal tract. Most often is asymptomatic but it may give a number of complications including gastrointestinal bleeding, obstruction and inflammation. Axial torsion and gangrene of MD are exceptional. The correct diagnosis of MD could only be made during surgery. Early surgery is important to reduce morbidity, especially perforation. Laparoscopy aided in the diagnosis and adequate treatment. We herein describe the case of a 4-year-old boy with axial torsion of MD. Clinical and radiographic finding suggest a segmental volvulus. Laparoscopy contributes to diagnosis and treatment of torted MD. PMID:27502885

  11. Meckel's diverticulectomy - series (image)

    MedlinePlus

    ... Meckel's diverticulum are thought to be due to appendicitis- and the Meckel's diverticulum is discovered only after the operation has begun. While the patient is deep asleep and pain-free (general anesthesia), an incision is made in ...

  12. Not Just Painless Bleeding: Meckel's Diverticulum as a Cause of Small Bowel Obstruction in Children—Two Cases and a Review of the Literature

    PubMed Central

    Itriyeva, Khalida; Harris, Matthew; Rocker, Joshua; Gochman, Robert

    2015-01-01

    Physicians are educated with the classical teaching that symptomatic patients with Meckel's diverticulum (MD) most often present with painless rectal bleeding. However, a review of the literature reveals that young patients with MD will most commonly present with signs of intestinal obstruction, an etiology not frequency considered in patients presenting to the emergency department with obstruction. We present two cases of intestinal obstruction diagnosed in our emergency department, with Meckel's diverticulum being the etiology. PMID:26788380

  13. Not Just Painless Bleeding: Meckel's Diverticulum as a Cause of Small Bowel Obstruction in Children-Two Cases and a Review of the Literature.

    PubMed

    Itriyeva, Khalida; Harris, Matthew; Rocker, Joshua; Gochman, Robert

    2015-01-01

    Physicians are educated with the classical teaching that symptomatic patients with Meckel's diverticulum (MD) most often present with painless rectal bleeding. However, a review of the literature reveals that young patients with MD will most commonly present with signs of intestinal obstruction, an etiology not frequency considered in patients presenting to the emergency department with obstruction. We present two cases of intestinal obstruction diagnosed in our emergency department, with Meckel's diverticulum being the etiology. PMID:26788380

  14. An unusual case of intraabdominal abscess and acute abdomen caused by axial torsion of a Meckel's diverticulum

    PubMed Central

    Yıldız, İhsan; Koca, Yavuz Savaş; Barut, İbrahim

    2016-01-01

    Background Meckel's diverticulum (MD), the most common congenital anomaly of the gastrointestinal tract, is a true diverticulum. MD is mostly seen in pediatric age groups but may be seen in adults as well. Is twice common in men than women. Surgical treatment is required in symptomatic MD patients. We present a 21-year-old female patient who was admitted with acute abdomen and underwent diverticulectomy with diagnosis of Meckel's diverticulum. Presentation of case The 21-year-old female patient was admitted to emergency service with abdominal pain, nausea and vomiting. Physical examination revealed abdominal distention, rebound tenderness and defense. Abdominal radiography revealed air-fluid levels. White blood cell count was high. In the exploration, torsion of MD was observed and diverticulectomy was performed. Histopathologic analysis indicated the presence of MD. The patient recovered without complication, and was uneventfully discharged. Discussion MD is found in 2% of the general population. Common complications of MD include gastrointestinal bleeding, intestinal obstruction, perforation and diverticulitis. However, axial torsion of MD is a rare complication. Simple diverticulectomy is sufficient in the treatment of most MD cases; however, ileal resection may be required in some cases. Diagnosis of MD is established by histopathologic analysis. Conclusion Although MD is known as a pediatric disease, it is likely to occur in adults as well. Axial torsion of Meckel's diverticulum should be kept in mind the adults presenting with symptoms of acute abdomen. PMID:26955478

  15. Meckel's diverticulum

    MedlinePlus

    Kahn E, Daum F. Anatomy, histology, embryology, and developmental anomalies of the small and large intestine. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger & Fordtran's Gastrointestinal and Liver ...

  16. Genomic mapping of pathways in endometrial adenocarcinoma and a gastrointestinal stromal tumor located in Meckel's diverticulum

    PubMed Central

    ENGLERT-GOLON, MONIKA; BUDNY, BARTLOMIEJ; BURCHARDT, BARTOSZ; WROTKOWSKA, ELZBIETA; ZIEMNICKA, KATARZYNA; RUCHAŁA, MAREK; SAJDAK, STEFAN

    2016-01-01

    The present study reports the case of a 71-year-old female patient diagnosed with endometrial adenocarcinoma, which was confirmed by histopathology. In the course of performing an elective hysterectomy with adnexa removal, a solid tumor located in Meckel's diverticulum (MD) was identified and excised. Due to the unique nature of the lesion, the tumor tissue underwent broad mapping of any genomic alterations once the histopathological examination was completed. The genetic testing was conducted using a high-resolution microarray and resulted in the identification of 45 genomic abnormalities, including 4 chromosomal aneuploidies. Within those regions, alterations of 87 known cancer genes were assigned. The involvement of v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog gene alteration was noted to be a key player for triggering gastrointestinal stromal tumor transformation for this unusual case. A total of 12 genes, showing mutual interaction in different cancer types or involved in diverse cellular processes, were identified. These reported data may shed light on the carcinogenesis of a rare MD tumor. PMID:26893683

  17. Laparoscopic excision of Meckel's diverticulum in children: What is the current evidence?

    PubMed Central

    Chan, Kin Wai Edwin; Lee, Kim Hung; Wong, Hei Yi Vicky; Tsui, Siu Yan Bess; Wong, Yuen Shan; Pang, Kit Yi Kristine; Mou, Jennifer Wai Cheung; Tam, Yuk Him

    2014-01-01

    Complications aroused from Meckel’s diverticulum tend to developed in children. Children presented with abdominal pain, intestinal obstruction, intussusception or gastrointestinal bleeding may actually suffered from complicated Meckel’s diverticulum. With the advancement of minimally invasive surgery (MIS) in children, the use of laparoscopy in the diagnosis and subsequent laparoscopic excision of Meckel’s diverticulum has gained popularity. Recently, single incision laparoscopic surgery (SILS) has emerged as a new technique in minimally invasive surgery. This review offers the overview in the development of MIS in the management of children suffered from Meckel’s diverticulum. The current evidence in different laparoscopic techniques, including conventional laparoscopy, SILS, the use of special laparoscopic instruments, intracorporeal diverticulectomy and extracorporeal diverticulectomy in the management of Meckel’s diverticulum in children were revealed. PMID:25386065

  18. The false-negative Meckel's scan

    SciTech Connect

    Wilton, G.; Froelich, J.W.

    1982-10-01

    A case is presented of a 17-month-old girl who underwent two Meckel's scans with /sup 99m/Tc pertechnetate. The initial study was interpreted as normal while a subsequent study five days later was definitely positive. Surgery immediately following the positive Meckel's scan demonstrated a Meckel's diverticulum containing gastric mucosa without evidence of active hemorrhage. This prompted a review of the literature in reference to false-negative Meckel's scans which revealed a wide variance in the reported incidence of false-negative examinations. Repeat scintigraphy in the face of a strong clinical suspicion after an initial normal study may decrease the indicence of false-negative imaging series.

  19. Zenker diverticulum.

    PubMed

    Prisman, Eitan; Genden, Eric M

    2013-12-01

    This article introduces the pathogenesis and relevant anatomy of Zenker diverticulum. The clinical symptoms and relevant investigation are presented along with the various therapeutic interventions including open and endoscopic approaches. Techniques to perform the myotomy and diverticulectomy are expanded on and include traditional suture ligation, endoscopic stapling devices, microlaryngoscopic CO2 laser and flexible LISA laser. The article concludes with a management algorithm for this entity based on the size of the diverticulum. PMID:24262962

  20. Softball injury causing haemoperitoneum due to ruptured Meckel's mesodiverticular band.

    PubMed

    Woodfield, Julie; Barnett, Mark; Shapkov, Peter

    2011-10-14

    A 16-year-old male sustained an intra-abdominal haemorrhage after diving for last base during a softball game. At laparotomy a ruptured patent mesodiverticular band supplying a large Meckel's diverticulum was found. Traumatic rupture of a mesodiverticular band leading to massive intra-abdominal haemorrhage is a rare event, and has never been reported as a single injury or in the context of a sport's injury. PMID:22016169

  1. Killian-Jamieson Diverticulum: Cervical Oesophageal Diverticulum.

    PubMed

    Zanwar, Vinay G; Gambhire, Pravir A; Choksey, Ajay S; Rathi, Pravin M

    2015-11-01

    Killian-Jamieson (K-J) diverticulum is an outpouching from the lateral wall of the proximal cervical oesophagus and is less commonly encountered compared to Zenker's diverticulum (ZD). These diverticulae arise between the fibers of the cricopharyngeus muscle superiorly and longitudinal muscle of the oesophagus inferiorly. In this report we present a case of a symptomatic Killian Jamieson diverticulum and review the clinical presentation, differential diagnosis and radiological findings that distinguish it from the more common Zenker's diverticulum. PMID:27608786

  2. Suppurative Meckel Diiverticulum in a 3-Year-Old Girl Presenting with Periumbilical Cellulitis

    PubMed Central

    Park, Ji Sook; Lim, Chun Woo; Park, Taejin; Cho, Jae-Min; Youn, Hee-Shang

    2015-01-01

    Meckel diverticulum (MD) is one of the most common congenital gastrointestinal anomalies and occurs in 1.2-2% of the general population. MD usually presents with massive painless rectal bleeding, intestinal obstruction or inflammation in children and adults. Suppurative Meckel diverticulitis is uncommon in children. An experience is described of a 3-year-old girl with suppurative inflammation in a tip of MD. She complained of acute colicky abdominal pain, vomiting and periumbilical erythema. Laparoscopic surgery found a relatively long MD with necrotic and fluid-filled cystic end, which was attatched to abdominal wall caused by inflammation. Herein, we report an interesting and unusual case of a suppurative Meckel diverticulitis presenting as periumbilical cellulitis in a child. Because of its varied presentations, MD might always be considered as one of the differential diagonosis. PMID:25866736

  3. [Kommerell's Diverticulum (KD)].

    PubMed

    Torres-Martel, José Miguel; Izaguirre-Guajardo, Gerardo; Ramírez-Portillo, César Iván

    2016-01-01

    Right aortic arch with aberrant left subclavian artery from a Kommerell's diverticulum is a very rare variant of the incomplete vascular ring. Associated symptoms are caused due to tracheal or esophagus compression. Magnetic resonance is the gold standard for diagnosis. Surgical treatment is recommended for symptomatic patients or asymptomatic patients with a large diverticulum. We report three consecutive cases of patients with Kommerell's diverticulum, aberrant left subclavian artery, and right-sided aortic arch. PMID:27335200

  4. Meckel's diverticular perforation presenting as acute abdomen in the second trimester of pregnancy.

    PubMed

    Ahmed, Z; Chhabra, S; Kankaria, J; Jenaw, R K

    2016-01-01

    Meckel's diverticular perforation is a rare cause of acute abdomen during pregnancy. We report the case of a 24-year-old woman at 24 weeks of gestation who presented with abdominal pain for 4 days accompanied with abdominal distension, tenderness and guarding in right lower quadrant. Ultrasonography was inconclusive. The patient underwent exploratory laparotomy with the clinical suspicion of appendicular perforation peritonitis. Intraoperatively, a perforated Meckel's diverticulum was detected. Owing to gross contamination of the peritoneal cavity, a diverticulectomy with ileostomy was performed. She had a normal full-term vaginal delivery, and ileostomy was reversed 1 month after delivery. The physiological and anatomical changes in pregnancy can make a straightforward clinical diagnosis difficult. A high index of suspicion is required to prevent delay in diagnosis and surgical intervention, which could prove detrimental to the mother and fetus. PMID:27507693

  5. Giant bladder diverticulum.

    PubMed

    Tortorelli, Antonio Pio; Rosa, Fausto; Papa, Valerio; Alfieri, Sergio; Doglietto, Giovanni Battista

    2011-03-01

    We present the case of a 73-year-old man affected by progressive and painful abdominal distension and paresthesia/hypoesthesia at the left leg. US and CT-scan revealed the presence in the left retroperitoneum of a large cystic mass without parietal thickening or enhancement after contrast injection. This mass disappeared after positioning a vesical Foley's catheter and a retrograde cystography confirmed the suspected diagnosis of a large bladder diverticulum due to a severe prostatic hypertrophy; the patient underwent an open diverticulectomy and endoscopic prostatic resection. Bladder diverticula can occasionally appear as complex pelvic masses not obviously connected to the bladder, eventually leading to diagnostic confusion; while small size diverticulum resolves with relief of bladder outlet obstruction, open or laparoscopic diverticulectomy is needed in large size diverticulum if symptomatic, even considering the possible tumor harboring. PMID:21229344

  6. Congenital anterior urethral diverticulum.

    PubMed

    Singh, Sanjeet Kumar; Ansari, Ms

    2014-09-01

    Congenital anterior urethral diverticulum (CAUD) may be found all along the anterior urethra and may present itself at any age, from infant to adult. Most children with this condition present with difficulty in initiating micturition, dribbling of urine, poor urinary stream, or urinary tract infection. A careful history will reveal that these children never had a good urinary stream since birth, and the telltale sign is a cystic swelling of the penile urethra. In this paper, we present two cases of CAUD that were managed by excision of the diverticulum with primary repair. PMID:26328174

  7. Meckel's Diverticulitis as a Cause of an Acute Abdomen in the Second Trimester of Pregnancy: Laparoscopic Management

    PubMed Central

    Pandeva, Ivilina; Kumar, Sumit; Alvi, Atif; Nosib, Hema

    2015-01-01

    Introduction. Meckel's diverticulitis is an extremely rare cause of an acute abdomen in pregnancy. Its clinical presentation tends to be rather unusual and therefore commonly delaying diagnosis. The surgical method of exploration can be either by laparoscopy or through an open incision. Case Report. We report a case of a 34-year-old, P1 with previous Caesarean section, who presented at 20 weeks with worsening right-sided abdominal pain, distention, and peritonism. Ultrasound scan showed an area of a possibly thickened loop of bowel inconsistent with an appendicitis. The findings at laparoscopy were purulent fluid in the pelvis, a congested appendix, and inflamed Meckel's diverticulum. An appendectomy and excision of the diverticulum was performed using stapler technique. Discussion. Meckel's diverticulitis in pregnancy can have nonspecific presentation and poses difficulties for preoperative diagnosis. Delay in diagnosis and management poses significant maternal and fetal risks. The use of laparoscopy if the gestational age and uterine size permit its use allows a thorough exploration of the abdominal cavity and management of rarer and unexpected pathology. Laparoscopic management of acute abdomen in the midtrimester of pregnancy has been found to be safe and effective. PMID:25648324

  8. Bilateral Meckel's cave amyloidoma: a case report.

    PubMed

    Gültaşli, N; van den Hauwe, L; Bruneau, M; D'Haene, N; Delpierre, I; Balériaux, D

    2012-05-01

    Primary solitary amyloidoma of Meckel's cave is rare, and a bilateral location is even more rare. To the best of our knowledge, only 12 cases in the literature have described such a primary lesion, including one case of bilateral involvement of Meckel's cave. We report here on the case of a 57-year-old woman presenting with pseudotumor masses involving both Meckel's caves and responsible for trigeminal neuropathy. The final diagnosis of amyloidoma was made on the basis of histological examination of surgical biopsy specimens. PMID:21641646

  9. Zenker's diverticulum: Rotterdam experience.

    PubMed

    Visser, L J; Hardillo, J A U; Monserez, D A; Wieringa, M H; Baatenburg de Jong, R J

    2016-09-01

    Different surgical techniques exist for the treatment of Zenker's diverticulum (ZD), of which minimally invasive techniques have become the standard. We reviewed our experience with management and treatment of ZD and sought to determine what type of treatment is most effective and efficient. We selected patients who underwent treatment for ZD between January 2004 and January 2014 at our tertiary referral center. All procedures were performed by ENT surgeons. The medical records were reviewed for pre- and intraoperative characteristics and follow-up. Of our 94 patients (58 male, 36 female), 75 underwent endoscopic cricopharyngeal myotomy (42 stapler, 33 laser) and 6 received treatment via transcervical approach. 13 interventions were aborted. Mean operating time was 49.0 min for stapler, 68.3 for laser and 124.0 for the transcervical approach. Its respective median post-operative admission durations were 2.0, 3.0 and 3.0 days. After the first treatment, of the 75 endoscopic procedures, 45 patients (23 stapler, 22 laser) had complete symptom resolution. In the transcervical group 4 (67 %) patients were symptom free and one patient died of complications. In the endoscopically treated patients, ten complications occurred, of which 8 G1 and 2 G2 (Clavien Dindo classification). In the transcervical group 2 complications occurred, 1 G3b and 1 G5. Both endoscopic techniques provide efficient management of Zenker's diverticulum with the stapler-assisted modality providing a shorter surgery duration and hospital admission. Although there is no significant difference in terms of complications or recurrence rates for both endoscopic techniques, it seems that stapler patients are at higher risk of having a re-intervention and of having more severe complications. PMID:26576954

  10. Gut wall replacing type of gastrointestinal stromal tumor presenting as a perforation of the ileal diverticulum.

    PubMed

    Ikemura, Masako; Kunita, Akiko; Miwa, Yoshiyuki; Jimbo, Keiichi; Mori, Kazuhiko; Seto, Yasuyuki; Fukayama, Masashi

    2015-11-01

    Gastrointestinal stromal tumors (GISTs) usually form a well-circumscribed mass. Very rarely, however, sporadic GISTs show gut-wall replacing growth, similar to the diffuse hyperplasia of interstitial cells of Cajal (ICC) observed in patients with neurofibromatosis type 1 (NF1) and hereditary GIST. Here we describe a patient with ileal perforation caused by this unusual type of GIST. An 82-year-old man was admitted to the emergency department with sudden abdominal pain. Following a provisional diagnosis of perforation of Meckel's diverticulum, he underwent segmental resection of the small intestine. Macroscopic examination revealed a diverticulum-like structure 2.5cm in size near the site of mesenteric attachment of the ileum. Histological examination showed diffuse and nodular proliferation of spindle cells positive for c-KIT and CD34 that had replaced the muscularis propria of the small intestine. Mutational analyses of the lesions revealed monoclonality of proliferating cells with a somatic mutation in c-kit exon 11 (p.Leu576Pro). Gut-wall replacing type of GIST should be recognized as a specific type of GIST causing diverticulum-like structures of the gastrointestinal tract. PMID:26298631

  11. Acquired Pharyngeal Diverticulum after Anterior Cervical Fusion Operation Misdiagnosed as Typical Zenker Diverticulum.

    PubMed

    Park, Jong Myung; Kim, Chang Wan; Kim, Do Hyung

    2016-08-01

    A pharyngeal diverticulum is a rare complication of an anterior cervical discectomy and fusion (ACDF). We present a case of a pharyngeal diverticulum after an ACDF, which was misdiagnosed as a typical Zenker diverticulum. A 54-year-old woman presented with dysphagia and a sense of irritation in the neck following C5 through C7 cervical fusion 3 years prior. The patient underwent open surgery to resect the diverticulum with concurrent cricopharyngeal myotomy. An ACDF-related diverticulum is difficult to distinguish from a typical Zenker diverticulum. PMID:27525244

  12. Acquired Pharyngeal Diverticulum after Anterior Cervical Fusion Operation Misdiagnosed as Typical Zenker Diverticulum

    PubMed Central

    Park, Jong Myung; Kim, Chang Wan; Kim, Do Hyung

    2016-01-01

    A pharyngeal diverticulum is a rare complication of an anterior cervical discectomy and fusion (ACDF). We present a case of a pharyngeal diverticulum after an ACDF, which was misdiagnosed as a typical Zenker diverticulum. A 54-year-old woman presented with dysphagia and a sense of irritation in the neck following C5 through C7 cervical fusion 3 years prior. The patient underwent open surgery to resect the diverticulum with concurrent cricopharyngeal myotomy. An ACDF-related diverticulum is difficult to distinguish from a typical Zenker diverticulum. PMID:27525244

  13. Genetics of the Meckel Syndrome (Dysencephalia Splanchnocystica)

    ERIC Educational Resources Information Center

    Hsia, Y. E.; And Others

    1971-01-01

    Reported are seven cases in two families of the Meckel syndrome, whose key features are occipital encephalocele, cleft lip and palate, polydactyly, and polycystic kidneys. Evidence supports the hypothesis that the syndrome is a recessively inherited condition, determined by homozygous expression of a single autosomal gene. (Author/KW)

  14. Female Urethral Diverticulum Containing a Giant Calculus

    PubMed Central

    Dong, ZhiLong; Wang, Hanzhang; Zuo, LinJun; Hou, MingLi

    2015-01-01

    Abstract Urethral diverticula with calculi have a low incidence as reported in the literature. Diverticulum of female urethra is rare, often discovered due to associated complications. We report a case of diverticulum of the female urethra containing giant calculi in a 62-year-old multiparous woman. She consulted with our office due to dysuria and a hard, painful periurethral mass in the anterior vagina wall. The diverticulum was approached surgically by a vaginal route, and local extraction of the calculi and subsequent diverticulectomy successfully treated the condition. Diagnosis of a complicated diverticulum can be easily achieved if one possesses a high degree of clinical symptoms. PMID:25997056

  15. Intrathoracic pulsion diverticulum in a horse

    PubMed Central

    Yamout, Sawsan Z.; Magdesian, K. Gary; Tokarz, Debra A.; le Jeune, Sarah S.

    2012-01-01

    This is a report of a 12-year-old Swedish Warmblood gelding with a ruptured esophageal pulsion diverticulum associated with atypical clinical signs of colic and septic peritonitis on presentation. The location of this diverticulum at the hiatus was unique and was most likely responsible for the unusual presentation of this horse. PMID:23024389

  16. Meckel's cave epidermoid with trigeminal neuralgia: CT findings.

    PubMed

    Kapila, A; Steinbaum, S; Chakeres, D W

    1984-12-01

    An epidermoid tumor of Meckel's cave was found in a middle-aged woman with trigeminal neuralgia. On CT the lesion had negative attenuation numbers of fat and extended from an expanded Meckel's cave through the porous trigeminus into the ambient and cerebellopontine angle cisterns. Surgical excision provided relief of the patient's trigeminal neuralgia. PMID:6501628

  17. Endovascular Management of Sigmoid Sinus Diverticulum.

    PubMed

    Paramasivam, Srinivasan; Furtado, Sunil; Shigamatsu, Tomoyoshi; Smouha, Eric

    2016-06-01

    Sigmoid sinus diverticulum (SSD) is a rare vascular disorder due to dehiscence of the sigmoid plate. It may be associated with prediverticular venous sinus stenosis (SS) and usually presents as pulsatile tinnitus. The mechanism of development of the SSD and tinnitus from a sinus diverticulum and associated SS is unclear. Previous case reports have suggested that remodeling of the venous system targeting the stenosis, elimination of the diverticulum, or both, have resulted in symptom relief. We present a case of SSD with SS, treated by stenting of the stenosis along with coil embolization of the diverticulum, resulting in complete relief of symptoms. We have also reviewed the literature and discussed the evolution of management from open surgical treatment to endovascular treatment. PMID:27610124

  18. Endovascular Management of Sigmoid Sinus Diverticulum

    PubMed Central

    Paramasivam, Srinivasan; Furtado, Sunil; Shigamatsu, Tomoyoshi; Smouha, Eric

    2016-01-01

    Sigmoid sinus diverticulum (SSD) is a rare vascular disorder due to dehiscence of the sigmoid plate. It may be associated with prediverticular venous sinus stenosis (SS) and usually presents as pulsatile tinnitus. The mechanism of development of the SSD and tinnitus from a sinus diverticulum and associated SS is unclear. Previous case reports have suggested that remodeling of the venous system targeting the stenosis, elimination of the diverticulum, or both, have resulted in symptom relief. We present a case of SSD with SS, treated by stenting of the stenosis along with coil embolization of the diverticulum, resulting in complete relief of symptoms. We have also reviewed the literature and discussed the evolution of management from open surgical treatment to endovascular treatment. PMID:27610124

  19. Meckel-Gruber syndrome: A rare and lethal anomaly

    PubMed Central

    Kheir, Abdelmoneim E. M.; Imam, Abdelmutalab; Omer, Ilham M.; Hassan, Ibtsama M.A.; Elamin, Sara A.; Awadalla, Esra A.; Gadalla, Mohammed H.; Hamdoon, Tagwa A.

    2012-01-01

    Meckel-Gruber syndrome is a rare and lethal autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly and bilateral dysplastic cystic kidneys. It can be associated with many other conditions. Antenatal ultrasound examination establishes the diagnosis by identifying at least two of the major features described. We describe a female baby who had the typical triad of Meckel-Gruber syndrome and died shortly after birth.

  20. Giant diverticulum of the sigmoid colon.

    PubMed

    García Flórez, L J; Otero Diez, J; López Muñiz, C; Santamaría Girón, L; Pérez Suárez, A

    2002-12-01

    The giant colonic diverticulum is a very rare clinical entity usually located in the sigmoid colon of elderly patients. A case of an 87-year-old woman recently treated in our hospital is reported hereinafter. The patient was non-surgically treated due to her advanced age and high surgical risk. PMID:12733335

  1. Zenker's Diverticulum: Diagnostic Approach and Surgical Management

    PubMed Central

    Nuño-Guzmán, Carlos M.; García-Carrasco, Daniel; Haro, Miguel; Arróniz-Jáuregui, José; Corona, Jorge L.; Salcido, Macario

    2014-01-01

    Zenker's diverticulum (ZD), also known as cricopharyngeal, pharyngoesophageal or hypopharyngeal diverticulum, is a rare condition characterized by an acquired outpouching of the mucosal and submucosal layers originating from the pharyngoesophageal junction. This false and pulsion diverticulum occurs dorsally at the pharyngoesophageal wall between the inferior pharyngeal constrictor and the cricopharyngeus muscle. The pathophysiology of ZD involves altered compliance of the cricopharyngeus muscle and raised intrabolus pressure. Decreased compliance of the upper esophageal sphincter and failure to open completely for effective bolus clearance both lead to an increase in the hypopharyngeal pressure gradient. Different open surgical techniques and transoral endoscopic approaches have been described for the management of ZD, although there is no consensus about the best option. We report the case of a 61-year-old patient with a 7-year history of dysphagia and odynophagia for solid food, which after 2 months progressed to dysphagia for liquids and after 4 months to regurgitation 2–6 h after meals. The patient experienced a 12-kg weight loss. Diagnosis was established by esophagogram, which showed a diverticulum through the posterior pharyngeal wall, suggestive of a ZD. Esophagogastroduodenoscopy showed a pouch with erythematous mucosa. Under general anesthesia, diverticulectomy and myotomy were performed. After an uneventful recovery and adequate oral intake, the patient remains free of symptoms at 4 months of follow-up. PMID:25759630

  2. Burckhard F. Kommerell and Kommerell's Diverticulum

    PubMed Central

    van Son, Jacques A.M.; Konstantinov, Igor E.

    2002-01-01

    Burckhard Friedrich Kommerell's scholarly description of the aortic diverticulum that bears his name was published in 1936. In the international literature, however, the name of Kommerell survives only as an eponym. We present biographical information about Kommerell, as supplied by family members, and comment on the surgical relevance of his 1936 report. (Tex Heart Inst J 2002;29:109–12) PMID:12075866

  3. Clinical Conundrum: Killian-Jamieson Diverticulum with Paraesophageal Hernia.

    PubMed

    Bock, Jonathan M; Knabel, Michael J; Lew, Daniel A; Knechtges, Paul M; Gould, Jon C; Massey, Benson T

    2016-08-01

    Killian-Jamieson diverticulum is a outpouching of the lateral cervical esophageal wall adjacent to the insertion of the recurrent laryngeal to the larynx and is much less common in clinical practice than Zenkers Diverticulum. Surgical management of Killian-Jamieson diverticulum requires open transcervical diverticulectomy due to the proximity of the recurrent laryngeal nerve to the base of the pouch. We present a case of a Killian-Jamieson diverticulum associated with a concurrent large type III paraesophageal hernia causing significant solid-food dysphagia, post-prandial regurgitation of solid foods, and chronic cough managed with open transcervical diverticulectomy and laparoscopic paraesophageal hernia repair with Nissen fundoplication. PMID:26753928

  4. A rare entity in adults: Bilateral Hutch diverticulum with calculi.

    PubMed

    Telli, Onur; Guclu, Adil Gucal; Haciyev, Perviz; Burgu, Berk; Gogus, Cagatay

    2015-01-01

    Congenital bladder diverticulum (CBD) is a very uncommon entity in adults. CBD could be unilateral or bilateral and is caused by a congenital weakness in the bladder musculature. CBD is differentiated from the paraureteral or Hutch type of diverticula. A 42-year-old male presented with bilateral Hutch diverticulum and multiple diverticulum calculus on intravenous pyelography. Cystoscopy revealed bladder diverticulum just medial to the left ureteral orifice with multiple calculi; the patient successfully underwent endoscopic laser cystolithotripsy with resolution of his urinary tract infection. To the best of our knowledge, this is the first case report presenting stone formation of CBD in an adult. PMID:26029313

  5. Principles of surgical treatment of Zenker diverticulum

    PubMed Central

    Constantin, A; Mates, IN; Predescu, D; Hoara, P; Achim, FI; Constantinoiu, S

    2012-01-01

    Background: Pharyngo-esophageal diverticula are most frequently described in elderly patients, having symptoms such as dysphagia, regurgitation, chronic cough, aspiration and weight loss. The etiology remains controversial, although most of the theories are linked to structural or functional abnormalities of the crico-pharyngeal muscle. With the therapeutic attitude varying from conservative to surgical (with associated morbidity and mortality), the importance of knowing the etiopathology and clinical implications of the disease for establishing the management of the case is mandatory. The aim of the study is the reevaluation of the methods and therapeutic principles in pharyngo-esophageal diverticular disease, starting from the etio pathogeny. Materials and Methods: Our study group is made up of 11 patients with surgical indication for Zenker diverticulum, operated between 2001 and 2011. Results: During that period, more patients were diagnosed with this pathology, but the surgical indication was carefully established, in conformity with the actual practice guides, which involve the evaluation of the clinical manifestations determined by the diverticulum, as well as the identification and interception of the pathological mechanisms by the therapeutic gesture. Conclusion: Although it has a “benign” pathology, the esophageal diverticulum requires complex surgical procedure that implies significant morbidity. Abbreviations UES= upper esophageal sphincter; NPO= nothing by mouth PMID:22574094

  6. Ulcer in the basis of Zenker's diverticulum mimicking esophageal malignancy.

    PubMed Central

    Odemis, Bolent; Ataseven, Hilmi; Basar, Omer; Ertugrul, Ibrahim; Yüksel, Osman; Turhan, Nesrin

    2006-01-01

    Complications of Zenker's diverticulum are rare and include ulcer, bleeding and malignancy. Ulcer in the basis of diverticulum is a very rare complication and to date only four cases have been reported in the literature. Herein, we report a new case of ulcer in Zenker's diverticulum mimicking esophageal malignancy presumed to be due to aspirin and/or alcohol consumption. The exact diagnosis was troublesome and needed to perform diagnostic procedures repeatedly. The patient underwent external pharyngoesophageal diverticulectomy. We emphasize that endoscope should be withdrawn if any resistance is encountered during esophageal intubation-even with forward-viewing endoscope-especially when there is a Zenker's diverticulum suspicion and the patient receives ulcerogenic agents. Endoscopic examination should be performed prior to any definitive surgical procedure in all patients with Zenker's diverticulum. Images Figure 1 Figure 2 Figure 3 Figure 4 PMID:16895291

  7. Meckel-Gruber syndrome: Report of two cases

    PubMed Central

    Panduranga, C; Kangle, Ranjit; Badami, Rajshree; Patil, Prakash V

    2012-01-01

    Meckel-Gruber syndrome (MKS) is an autosomal recessive disorder, characterized by a combination of renal cysts and variably associated with features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia, cysts, and polydactyly. It is a rare syndrome with highest incidence in Gujarati Indians and Finnish population. We report two such cases of MKS in non-Gujarati Indian which were diagnosed by neonatal autopsy. PMID:22346195

  8. Female Urethral Diverticulum: Current Diagnosis and Management.

    PubMed

    Crescenze, Iryna M; Goldman, Howard B

    2015-10-01

    While urethral diverticulum (UD) affects less than 20 per 1,000,000 women overall, it is thought to represent 1.4% of women with incontinence presenting to urology practices. It is hypothesized to evolve from periurethral glands that become obstructed, infected, and dilated over time, and patients typically present with dyspareunia, bothersome lower urinary tract symptoms (LUTS), and/or recurrent UTIs. In many patients, a periurethral mass can be appreciated on exam. In recent years, magnetic resonance imaging (MRI) has become the imaging test of choice for diagnosis of UD, but ultrasound (US) is a readily available alternative and provides good specificity at a lower cost. Surgical excision of the diverticulum with tension-free, water-tight, three-layer closure continues to be the mainstay of treatment of UD with most studies reporting cure rates of >90%. Concomitant treatment of preexisting stress incontinence with autologous fascial pubovaginal sling can be used at the time of diverticulectomy to avoid a secondary procedure. However, since secondary anti-incontinence procedures are needed in only a small number of patients, up-front stress incontinence treatment may result in significant overtreatment, and staged anti-incontinence procedures continue to be a reasonable option for patients with persistent bothersome stress urinary incontinence (SUI) after diverticulectomy. PMID:26267225

  9. Meckel cave: computed tomographic study. Part I. Normal anatomy. Part II. Pathology

    SciTech Connect

    Kapila, A.; Chakeres, D.W.; Blanco, E.

    1984-08-01

    A formalin-fixed cadaver head with air filling the cisternal and ventricular spaces was scanned by high-resolution computed tomography (CT) in multiple planes (axial, coronal, and sagittal) through the Meckel cave. Correlation of the CT appearance of the Meckel cave was made with an anatomic dissection and whole-head band saw cross-sections. CT techniques allowed consistent and accurate definition of the Meckel cave, the fifth cranial nerve, and adjacent anatomic structures. CT findings of 13 patients with lesions of the Meckel cave are also reviewed, including six trigeminal schwannomas, three meningiomas, two secondary tumors, one glioma, and one congenital fatty tumor. Surgical confirmation was present in 11 cases. Diagnosis and determination of the extent of Meckel cave lesions is possible with the use of high-resolution CT.

  10. Laparoscopic approach in the treatment of large epiphrenic esophageal diverticulum

    PubMed Central

    Kvietkauskas, Mindaugas; Beiša, Augustas; Strupas, Kęstutis

    2015-01-01

    Epiphrenic diverticulum of the lower third of the esophagus is a relatively rare disorder. We present the case of a large, 7.5 cm diameter esophageal epiphrenic diverticulum treated by the laparoscopic approach. Surgery was indicated by the severity of the patient‘s symptoms and size of the diverticulum. A laparoscopic transhiatal diverticulectomy with a myotomy and Dor fundoplication was carried out. The overall operative time was 180 min. The patient tolerated the surgery well and was discharged from hospital 4 days after the surgery. From the 10th postoperative day the patient resumed a regular diet. Four weeks after the operation the patient had no complaints, symptoms of dysphagia or vomiting. The laparoscopic approach in the treatment of a large, 7.5 cm epiphrenic diverticulum of the esophagus is feasible, safe and well tolerated by the patient. PMID:26865897

  11. Iatrogenic perforation of perivaterian duodenal diverticulum: report of a case

    PubMed Central

    Cavanagh, James E.

    1996-01-01

    The author reports a case of iatrogenic perforation of a duodenal diverticulum, an extremely rare occurrence, during percutaneous radiologic extraction of a retained common-bile-duct stone. Perforation was related to the perivaterian location of the duodenal diverticulum. Because an inflammatory reaction was present, tube duodenostomy was chosen over excision, closure and drainage to prevent the complication of lateral duodenal fistula and sepsis. Whenever iatrogenic duodenal perforation is suspected, prompt radiologic documentation and early surgical consultation should be sought. PMID:8697327

  12. Spontaneous Meckel's cave hematoma: A rare cause of trigeminal neuralgia

    PubMed Central

    Alafaci, Concetta; Grasso, Giovanni; Granata, Francesca; Marino, Daniele; Salpietro, Francesco M.; Tomasello, Francesco

    2015-01-01

    Background: The most common etiology of classic trigeminal neuralgia (TN) is vascular compression. However, other causes must be considered. Among these, spontaneous hematoma of the Meckel's cave (MC) causing symptomatic TN is very rare. Case Description: We present the case of a 60-year-old woman with a 2-month history of left TN and diplopia. Neuroradiological examinations revealed a well-defined hematoma in the left MC. The patient underwent surgical decompression with a progressive neurological improvement. Conclusion: Despite the number of lesions potentially affecting the MC, spontaneous hemorrhage is rare but should be taken into account in the differential diagnosis. PMID:26539319

  13. Effects of cigarette smoke on the Meckel's cartilage of rat fetus: morphologic, morphometric and stereologic study.

    PubMed

    Brandini, Daniela Atili; Sala, Miguel Angel; Lopes, Ruberval Armando; Semprini, Marisa; Contrera, Mary Garcia Duarte

    2005-01-01

    The purpose of this study was to investigate the effects of cigarette smoke on the development of the embryo mandible (Meckel's) cartilage in rat fetuses. When inhaled by female Wistar rats between the 9th and the 12th day of pregnancy, cigarette smoke (5 cigarettes a day) caused intrauterine growth retardation, providing smaller fetuses and placentas. In fetuses from the experimental group, the histopathologic examination revealed a poorly developed Meckel's cartilage with smaller chondroblasts showing a scanty cytoplasm with spherical and paler central nuclei, as well as more abundant cartilage matrix. Morphometric analysis revealed that Meckel's cartilage lacunae were smaller in the fetuses from the experimental group, although not showing any remarkable alteration in shape. The results suggested that inhalation of cigarette smoke by pregnant rats during the organogenic period induced growth retardation and delayed cellular differentiation in rat fetal Meckel's cartilage. PMID:16113936

  14. Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature

    PubMed Central

    Parelkar, Sandesh V.; Kapadnis, Satish P.; Sanghvi, Beejal V.; Joshi, Prashant B.; Mundada, Dinesh; Oak, Sanjay N.

    2013-01-01

    Meckel-Gruber syndrome is a rare autosomal recessive lethal malformation characterized by typical manifestations of occipital encephalocele, bilateral polycystic kidneys and post axial polydactyly. The worldwide incidence varies from 1 in 13,250 to 1 in 140,000 live births. Highest incidence was reported in Gujarati Indians. We report a rare case of Meckel-Gruber syndrome and review of literature. PMID:24082939

  15. Clinics in diagnostic imaging (162). Meckel’s diverticulum

    PubMed Central

    Singh, Dinesh R; Pulickal, Geoiphy G; Lo, Zhiwen J; Peh, Wilfred CG

    2015-01-01

    A 28-year-old Chinese man presented with acute bleeding per rectum. Computed tomography showed a posterior outpouching arising from the distal ileum. The outpouching had hyperaemic walls, but no active contrast extravasation was detected. Technetium-99m pertechnetate scintigraphy showed focal areas of abnormal uptake in the right side of the pelvis, superior and posterior to the urinary bladder. These areas of uptake appeared simultaneously with the gastric uptake and demonstrated gradual increase in intensity on subsequent images. The diagnosis of Meckel’s diverticulum was confirmed on surgery and the lesion was resected. The clinical and imaging features of Meckel’s diverticulum are discussed. PMID:26451056

  16. Syncope with Surprise: An Unexpected Finding of Huge Gastric Diverticulum.

    PubMed

    Podda, Mauro; Atzeni, Jenny; Messina Campanella, Antonio; Saba, Alessandra; Pisanu, Adolfo

    2016-01-01

    A gastric diverticulum is a pouch protruding from the gastric wall. The vague long clinical history ranging between dyspepsia, postprandial fullness, and upper gastrointestinal bleeding makes this condition a diagnostic challenge. We present a case of large gastric diverticulum that has been diagnosed during clinical investigations for suspected cardiovascular issues in a patient admitted at the medical ward for syncope. A 51-year-old man presented to the medical department due to a syncopal episode occurring while he was resting on the beach after having his lunch, with concomitant vague epimesogastric gravative pain without any other symptom. A diagnosis of neuromediated syncopal episode was made by the cardiologist. Due to the referred epimesogastric pain, an abdominal ultrasound scan was carried out, showing perisplenic fluid. A CT scan of the abdomen was performed to exclude splenic lesions. The CT scan revealed a large diverticulum protruding from the gastric fundus. The upper gastrointestinal endoscopy visualized a large diverticular neck situated in the posterior wall of the gastric fundus, partially filled by undigested food. The patient underwent surgery, with an uneventful postoperative course. Histologic examination showed a full-thickness stomach specimen, indicative of a congenital diverticulum. At the 2nd month of follow-up, the patient was asymptomatic. PMID:27313940

  17. Dural diverticulum with a symptomatic cerebrospinal fluid leak.

    PubMed

    Armstrong, Nicholas; Williamson, Clinton; Williamson, Natalie; Fortes, Manuel; Tjauw, Iwan; Vij, Vikas; Trojan, Ryan

    2016-03-01

    A case report of a 63-year-old female patient with a cervical spinal dural diverticulum and intracranial hypotension secondary to a symptomatic CSF leak after minor trauma. The patient responded well after the cervical approach epidural blood patch procedure. PMID:26973722

  18. Syncope with Surprise: An Unexpected Finding of Huge Gastric Diverticulum

    PubMed Central

    Atzeni, Jenny; Messina Campanella, Antonio; Saba, Alessandra

    2016-01-01

    A gastric diverticulum is a pouch protruding from the gastric wall. The vague long clinical history ranging between dyspepsia, postprandial fullness, and upper gastrointestinal bleeding makes this condition a diagnostic challenge. We present a case of large gastric diverticulum that has been diagnosed during clinical investigations for suspected cardiovascular issues in a patient admitted at the medical ward for syncope. A 51-year-old man presented to the medical department due to a syncopal episode occurring while he was resting on the beach after having his lunch, with concomitant vague epimesogastric gravative pain without any other symptom. A diagnosis of neuromediated syncopal episode was made by the cardiologist. Due to the referred epimesogastric pain, an abdominal ultrasound scan was carried out, showing perisplenic fluid. A CT scan of the abdomen was performed to exclude splenic lesions. The CT scan revealed a large diverticulum protruding from the gastric fundus. The upper gastrointestinal endoscopy visualized a large diverticular neck situated in the posterior wall of the gastric fundus, partially filled by undigested food. The patient underwent surgery, with an uneventful postoperative course. Histologic examination showed a full-thickness stomach specimen, indicative of a congenital diverticulum. At the 2nd month of follow-up, the patient was asymptomatic. PMID:27313940

  19. Hybrid treatment of aortic dissection associated with Kommerell's diverticulum.

    PubMed

    Kozlov, Boris N; Panfilov, Dmitry S; Saushkin, Victor V; Shipulin, Vladimir M

    2016-06-01

    This clinical case demonstrates a successful simultaneous approach for Type B aortic dissection in association with Kommerell's diverticulum using an E-vita OPEN PLUS Hybrid prosthesis. Computed tomography in the early postoperative period and after a 6-month follow-up showed favourable surgical outcomes. PMID:26921885

  20. Transurethral Electrovaporization of Bladder Diverticulum: An Alternative to Open or Laparoscopic Bladder Diverticulectomy

    PubMed Central

    Chandhoke, Ryan A.

    2015-01-01

    Abstract We used transurethral electrovaporization of the diverticular mucosa as the primary treatment for an acquired bladder diverticulum in a female patient. The bladder diverticulum was secondary to bladder outlet obstruction from a previous pubovaginal sling. In comparison to either open or laparoscopic bladder diverticulectomy, transurethral electrovaporization of the bladder diverticulum was effective in significantly reducing the diverticular size while being less invasive, requiring a short operative time, and a quick patient recovery.

  1. Female urethral diverticulum containing a giant calculus: a CARE-compliant case report.

    PubMed

    Dong, ZhiLong; Wang, Hanzhang; Zuo, LinJun; Hou, MingLi

    2015-05-01

    Urethral diverticula with calculi have a low incidence as reported in the literature. Diverticulum of female urethra is rare, often discovered due to associated complications. We report a case of diverticulum of the female urethra containing giant calculi in a 62-year-old multiparous woman. She consulted with our office due to dysuria and a hard, painful periurethral mass in the anterior vagina wall. The diverticulum was approached surgically by a vaginal route, and local extraction of the calculi and subsequent diverticulectomy successfully treated the condition.Diagnosis of a complicated diverticulum can be easily achieved if one possesses a high degree of clinical symptoms. PMID:25997056

  2. Esophageal diverticulum exposed during endoscopic submucosal dissection of superficial cancer.

    PubMed

    Tanaka, Shinwa; Toyonaga, Takashi; Ohara, Yoshiko; Yoshizaki, Tetsuya; Kawara, Fumiaki; Ishida, Tsukasa; Hoshi, Namiko; Morita, Yoshinori; Azuma, Takeshi

    2015-03-14

    Endoscopic submucosal dissection (ESD) is now widely accepted as a strategy to treat superficial esophageal neoplasms. The rate of adverse events, such as perforation, has been decreasing with the improvement of devices and techniques. In this paper, we report a case of esophageal cancer that had a diverticulum under cancerous epithelium. The diverticulum was not detected during preoperative examination, and led to perforation during the ESD procedure. Our case shows that, although rare, some diverticula can exist underneath the mucosal surface without obvious depression. If there is any sign of hidden diverticula during ESD, surgeons should proceed with caution or, depending on the case, the procedure should be discontinued to avoid adverse events. PMID:25780314

  3. Syncope in a patient with giant bladder diverticulum.

    PubMed

    Kaneko, Nozomu; Kawasaki, Tatsuya; Boku, Hidehisa; Kamitani, Tadaaki

    2012-01-01

    Syncope is common in clinical practice, but the cause is often difficult to diagnose. We report a 75-year-old man who was referred to the emergency department because of syncope after an urgent sensation of urinating during jogging. He was finally diagnosed as having a giant bladder diverticulum due to prostatic hyperplasia accompanied by neurally mediated syncope. Excessive urinary retention is a possible cause of not only giant bladder diverticula but also syncope due to vagal enhancement. PMID:22821117

  4. Laser surgery for Zenker's diverticulum: European combined study.

    PubMed

    Papaspyrou, Giorgos; Schick, Bernhard; Papaspyrou, Spyros; Wiegand, Susanne; Al Kadah, Basel

    2016-01-01

    Surgical intervention is the gold standard of treatment for Zenker's diverticulum. The aim of this study was to examine the role of laser surgery in a large number of patients with this pathological entity. The data of 91 consecutive patients treated due to Zenker's diverticulum with the aid of CO2 laser in three institutions (Homburg/Saar and Marburg, Germany/Athens, Greece) during the last 10 years were retrospectively analyzed. Parameters examined were sex, age, preoperative symptoms, length of operation and complications, revision surgery necessity and degree of patient satisfaction. All patients had a minimum follow-up of one year. Dysphagia was the most common preoperative symptom (78 %). The most common minor complication was dental injury (6.6 %), but a serious complication in form of emphysema was observed in only two patients (2.2 %). A surgical revision was necessary in 8 (8.8 %) of the treated patients. The majority of treated patients was free of symptoms (86.8 %), or presented mild symptoms (9.9 %) one year after intervention, and only three patients (3.3 %) were dissatisfied. Our study shows that laser treatment of Zenker's diverticulum is an efficient operative technique associated with low complications rates and significant improvement of patients' symptoms in most of the examined cases. PMID:25567345

  5. Unraveling the genetics of Joubert and Meckel-Gruber syndromes

    PubMed Central

    Szymanska, Katarzyna; Hartill, Verity L.; Johnson, Colin A.

    2014-01-01

    Joubert (JBTS) and Meckel-Gruber (MKS) syndromes are recessive neurodevelopmental conditions caused by mutations in proteins that are structural or functional components of the primary cilium. In this review we provide an overview of their clinical diagnosis, management and molecular genetics. Both have variable phenotypes, extreme genetic heterogeneity, and display allelism both with each other and other ciliopathies. Recent advances in genetic technology have significantly improved diagnosis and clinical management of ciliopathy patients, with the delineation of some general genotype-phenotype correlations. We highlight those that are most relevant for clinical practice, including the correlation between TMEM67 mutations and the JBTS variant phenotype of COACH syndrome. The subcellular localization of the known MKS and JBTS proteins is now well-described, and we discuss some of the contemporary ideas about ciliopathy disease pathogenesis. Most JBTS and MKS proteins localize to a discrete ciliary compartment called the transition zone (TZ), and act as structural components of the so-called “ciliary gate” to regulate the ciliary trafficking of cargo proteins or lipids. Cargo proteins include enzymes and transmembrane proteins that mediate intracellular signaling. The disruption of TZ function may contribute to the ciliopathy phenotype by altering the composition of the ciliary membrane or axoneme, with impacts on essential developmental signaling including the Wnt and Shh pathways as well as the regulation of secondary messengers such as inositol-1,4,5-trisphosphate (InsP3) and cAMP. However, challenges remain in the interpretation of the pathogenic potential of genetic variants of unknown significance, and in the elucidation of the molecular mechanisms of phenotypic variability in JBTS and MKS. The further genetic and functional characterization of these conditions is essential to prioritize patients for new targeted therapies. PMID:25729630

  6. Cerebral thromboembolism in a patient awaiting surgery for left ventricular diverticulum.

    PubMed

    Nakanishi, Koji; Sakurai, Shigeru; Kawabata, Takuya; Shimizu, Shuji

    2011-02-01

    Fibrous-type left ventricular (LV) diverticulum is usually discovered incidentally. Most fibrous diverticula are clinically silent; they may, however, cause several fatal complications, such as spontaneous rupture. Here, we report a case in which multiple cerebral thromboembolisms occurred while a patient with a fibrous LV diverticulum was awaiting surgery. An 81-year-old woman was diagnosed as having an LV diverticulum and was scheduled for open surgery. Following admission for correction, she complained of headache, and magnetic resonance imaging revealed multiple cerebral infarctions. We recommend surgical treatment for asymptomatic LV diverticula to prevent systemic thromboembolism. PMID:21118837

  7. A Rare Case of Vesicourachal Diverticulum with Calculus in a 24-Year-Old Man

    PubMed Central

    Atalar, Mehmet Haydar; Salk, Ismail; Cetin, Ali; Bozbiyik, Nisa

    2016-01-01

    Summary Background During embryonal period, complete obliteration of the urachus at the umbilicus and incomplete closure at the bladder level are the cause of vesicourachal diverticulum. This abnormality is a rare finding that is usually discovered incidentally during radiological evaluation. Occasionally, stones have been detected within the diverticulum. Case Report We present a case of a vesicourachal diverticulum with calculus diagnosed by multidetector computed tomography and confirmed surgically and histopathologically in a 24-year-old man. Conclusions During the radiological differential diagnosis of abnormalities of abdominal wall and urinary system, consideration of urachal abnormalities is important especially in symptomatic patients. PMID:27429672

  8. A Case of Neonatal Heart Failure Caused by Left Ventricular Diverticulum: Successful ECMO Support Application.

    PubMed

    Gocen, Ugur; Atalay, Atakan; Salih, Orhan Kemal

    2016-01-01

    Congenital left ventricular diverticulum is a rare cardiac anomaly. During the newborn period, symptomatic patients are diagnosed with heart failure findings. We present a 23-day-old male newborn with congenital left ventricular diverticulum diagnosed during fetal echocardiographic examination. After the birth, the patient had heart failure symptoms and his echocardiographic examination showed low cardiac ejection fraction. Diverticulum was operated with endoventricular circular patch plasty (DOR) technique, and after, cardiopulmonary bypass venoarterial extracorporeal membrane oxygenation (ECMO) support was performed because of low cardiac output syndrome. On postoperative day 17, he was discharged with no problem. PMID:27585200

  9. Upper gastrointestinal bleeding caused by a "hypophrenic" diverticulum of the distal esophagus.

    PubMed

    Sam, Albert D; Chaer, Rabih A; Cintron, Jose; Teresi, Miguel; Massad, Malek G

    2005-04-01

    Distal esophageal diverticula are uncommon acquired anomalies of the distal thoracic esophagus. We report a case of an elderly man presenting with a history of upper gastrointestinal bleeding secondary to a distal esophageal diverticulum arising from the intra-abdominal portion of the esophagus. To our knowledge, this is the first report of upper gastrointestinal bleeding from a subdiaphragmatic esophageal diverticulum. We propose the term "hypophrenic diverticulum of the esophagus" for this disease entity, and we would like to bring it to the attention of readers of The American Surgeon. PMID:15943409

  10. Prevalence of Duodenal Diverticulum in South Indians: A Cadaveric Study

    PubMed Central

    Kannaiyan, Kavitha; Thiagarajan, Sivakami

    2013-01-01

    Background. Duodenum is the second most common site of diverticula after the colon. Diagnosis of duodenal diverticula is incidental and found during other therapeutic procedures. In 90% of cases, they are asymptomatic, and less than 10% develop clinical symptoms. The difficulty to ascertain the true incidence of duodenal diverticula demanded for the present study to elucidate the prevalence of the duodenal diverticulum in South Indians. Materials and Methods. One hundred and twenty specimens of duodenum were utilized for the study. The prevalence, anatomical location, and dimension of duodenal diverticulum were studied. Results. Among the 120 specimens of duodenum, five specimens had solitary, extraluminal, and globular-shaped diverticula in the medial wall of the duodenum. In three (60%) cases, it was found in the second part of duodenum and in two (40%) cases in the third part. The mean size of the diverticula was 1.4 cm. Conclusion. In the present study in South Indian people, the prevalence (4.2%) of duodenal diverticula is low comparable to other studies in the literature. Even though most of the duodenal diverticula are asymptomatic, the knowledge about its frequency and location is of great importance to prevent complications like diverticulitis, hemorrhage, obstructive jaundice, and perforation. PMID:25938103

  11. Where's the ulcer? Spontaneous bleeding from Zenker's diverticulum.

    PubMed

    Sardana, Nitin; Wallace, Dustin; Agrawal, Radheshyam; Aoun, Elie

    2014-01-01

    An 89-year-old man with a history of coronary artery disease status post coronary artery bypass grafting and atrial fibrillation on aspirin and warfarin, presented to the emergency department with a symptom of haemoptysis. He reported a history of dysphagia for 3 months prior to presentation, but had yet to seek medical attention. On presentation, he was hypotensive and tachycardic with a haemoglobin of 6.6 g/dL and an International Normalised Ratio (INR) of 3.9. Esophagogastroduodenoscopy was performed and showed active bleeding from Zenker's diverticulum. The patient's INR was reversed with fresh frozen plasma and his anaemia was treated with packed red blood cells. The bleeding stopped after reversal of his INR. A barium swallow confirmed a 9 cm Zenker's diverticulum. The patient had a diverticulectomy and cricopharyngeal myotomy. Histology showed mild chronic inflammation of the mucosa, but no ulceration. The patient was discharged without any further bleeding episodes. PMID:24916983

  12. Where's the ulcer? Spontaneous bleeding from Zenker's diverticulum

    PubMed Central

    Sardana, Nitin; Wallace, Dustin; Agrawal, Radheshyam; Aoun, Elie

    2014-01-01

    An 89-year-old man with a history of coronary artery disease status post coronary artery bypass grafting and atrial fibrillation on aspirin and warfarin, presented to the emergency department with a symptom of haemoptysis. He reported a history of dysphagia for 3 months prior to presentation, but had yet to seek medical attention. On presentation, he was hypotensive and tachycardic with a haemoglobin of 6.6 g/dL and an International Normalised Ratio (INR) of 3.9. Esophagogastroduodenoscopy was performed and showed active bleeding from Zenker's diverticulum. The patient's INR was reversed with fresh frozen plasma and his anaemia was treated with packed red blood cells. The bleeding stopped after reversal of his INR. A barium swallow confirmed a 9 cm Zenker's diverticulum. The patient had a diverticulectomy and cricopharyngeal myotomy. Histology showed mild chronic inflammation of the mucosa, but no ulceration. The patient was discharged without any further bleeding episodes. PMID:24916983

  13. Giant bladder diverticulum in Ehlers-Danlos syndrome type I causing outflow obstruction.

    PubMed

    Burrows, N P; Monk, B E; Harrison, J B; Pope, F M

    1998-05-01

    We describe a 16-year-old patient with Ehlers-Danlos syndrome (EDS) type I and recurrent urinary retention caused by giant bladder diverticulum and review the literature on this association. PMID:9861737

  14. [LAPAROSCOPIC APPROACH AND SURGICAL CONSIDERATIONS IN RESECTION OF A LARGE EPIPHRENIC ESOPHAGEAL DIVERTICULUM].

    PubMed

    Rudnicki, Yaron; Inbar, Roy; Barkay, Olga; Shpitz, Baruch; Ghinea, Ronen; Avital, Shmuel

    2015-08-01

    Epiphrenic diverticulum of the esophagus is an uncommon finding. Small diverticula are usually asymptomatic in nature. Large diverticula may present with dysphagia, chest or upper abdominal discomfort, vomiting, irritating cough or halitosis. There are a few different surgical approaches to epiphrenic diverticulum resection. It can be performed with an abdominal or a thoracic approach and in an open or a laparoscopic manner. In this case report we present a 70 years old male patient with a giant epiphrenic diverticulum and dysphagia. The patient was operated upon via a laparoscopic abdominal approach with intra-operative endoscopic assistance and underwent a diverticulum resection. We present a review of the different kinds of esophageal diverticula, the mechanism of their formation, and the surgical considerations associated with choosing the appropriate surgical approach. PMID:26480613

  15. Retromandibular vein diverticulum: unique imaging findings with a novel therapeutic strategy.

    PubMed

    Mondel, Prabath Kumar; Udare, Ashlesha Satish; Saraf, Rashmi; Limaye, Uday S

    2014-10-01

    Diverticula of the vascular system are rare. A diverticulum involving the retromandibular vein has not been described to date. We describe the imaging findings and a novel therapeutic strategy for the management of this rare diverticulum. A 25-year-old male presented with complaints of swelling behind the angle of mandible that enlarged on straining. On imaging, a retromandibular vein diverticulum was seen. The diverticulum was punctured percutaneously with the patient performing Valsalva maneuver and injected with sclerosant microfoam. There was no sclerosant reflux into the normal neck veins. At 6-month follow-up, the patient had complete resolution of his symptoms. We also have done a review of literature for patients with venous diverticula in the head and neck region treated by endovascular techniques. PMID:24556831

  16. Endoscopic Submucosal Dissection of an Inverted Early Gastric Cancer-Forming False Gastric Diverticulum

    PubMed Central

    Lee, Yong-il; Lee, Sang-kil

    2016-01-01

    Endoscopic submucosal dissection (ESD) is a standard treatment for early gastric cancer (EGC) that does not have any risk of lymph node or distant metastases. Here, we report a case of EGC resembling a diverticulum. Diverticular formation makes it difficult for endoscopists to determine the depth of invasion and to subsequently perform ESD. Because the false diverticulum does not have a muscular layer, this lesion can be treated with ESD. Our case was successfully treated with ESD. After ESD, the EGC was confined to the submucosal layer without vertical and lateral margin involvement. This is the first case in which ESD was successfully performed for a case of EGC that coexisted with a false gastric diverticulum. An additional, larger study is needed to determine the efficacy of ESD in various types of EGC, such as a false gastric diverticulum. PMID:26855930

  17. Duodenal diverticulum associated with annular pancreas: a rare cause of severe cholangitis.

    PubMed

    Ben Ameur, H; Boujelbene, S; Affes, N; Ghorbel, A; Beyrouti, M I

    2011-06-01

    Duodenal diverticulum is a common occurrence but most are asymptomatic. However, in some cases, they can cause mechanical biliary compression. We report the case of a duodenal diverticulum in a 64-year-old woman revealed by severe cholangitis with septic shock and a liver abscess. Associated annular pancreas was found. We discuss the various investigations to diagnose these two entities as well as the therapeutic strategy in this unique combination of disease. PMID:21715238

  18. A Mimic of Intra-abdominal Malignancy: Physiological Urinary Excretion of FDG in the Rare Adult Vesicourachal Diverticulum.

    PubMed

    Hsieh, Te-Chun; Sun, Shung-Shung; Lin, Chen-Yuan; Wu, Yu-Chin; Kao, Chia-Hung

    2016-06-01

    Urachal remnant anomalies are rare, and vesicourachal diverticulum is the most uncommon subtype of these anomalies. We present such a rare case of vesicourachal diverticulum that is incidentally discovered during the staging surveillance of a known esophageal cancer with F-FDG PET/CT. The physiological urinary excretion of radiopharmaceutical in the vesicourachal diverticulum mimics intra-abdominal malignancy, which resolves spontaneously in the follow-up FDG PET/CT. PMID:26825197

  19. Ewing sarcoma ewsa protein regulates chondrogenesis of Meckel's cartilage through modulation of Sox9 in zebrafish.

    PubMed

    Merkes, Chris; Turkalo, Timothy K; Wilder, Nicole; Park, Hyewon; Wenger, Luke W; Lewin, Seth J; Azuma, Mizuki

    2015-01-01

    Ewing sarcoma is the second most common skeletal (bone and cartilage) cancer in adolescents, and it is characterized by the expression of the aberrant chimeric fusion gene EWS/FLI1. Wild-type EWS has been proposed to play a role in mitosis, splicing and transcription. We have previously shown that EWS/FLI1 interacts with EWS, and it inhibits EWS activity in a dominant manner. Ewing sarcoma is a cancer that specifically develops in skeletal tissues, and although the above data suggests the significance of EWS, its role in chondrogenesis/skeletogenesis is not understood. To elucidate the function of EWS in skeletal development, we generated and analyzed a maternal zygotic (MZ) ewsa/ewsa line because the ewsa/wt and ewsa/ewsa zebrafish appeared to be normal and fertile. Compared with wt/wt, the Meckel's cartilage of MZ ewsa/ewsa mutants had a higher number of craniofacial prehypertrophic chondrocytes that failed to mature into hypertrophic chondrocytes at 4 days post-fertilization (dpf). Ewsa interacted with Sox9, which is the master transcription factor for chondrogenesis. Sox9 target genes were either upregulated (ctgfa, ctgfb, col2a1a, and col2a1b) or downregulated (sox5, nog1, nog2, and bmp4) in MZ ewsa/ewsa embryos compared with the wt/wt zebrafish embryos. Among these Sox9 target genes, the chromatin immunoprecipitation (ChIP) experiment demonstrated that Ewsa directly binds to ctgfa and ctgfb loci. Consistently, immunohistochemistry showed that the Ctgf protein is upregulated in the Meckel's cartilage of MZ ewsa/ewsa mutants. Together, we propose that Ewsa promotes the differentiation from prehypertrophic chondrocytes to hypertrophic chondrocytes of Meckel's cartilage through inhibiting Sox9 binding site of the ctgf gene promoter. Because Ewing sarcoma specifically develops in skeletal tissue that is originating from chondrocytes, this new role of EWS may provide a potential molecular basis of its pathogenesis. PMID:25617839

  20. Urethral Diverticulum Masquerading as Anterior Vaginal Wall Cyst: A Diagnostic Dilemma

    PubMed Central

    Kaur, Gurpreet; Sharma, Abha; Suneja, Amita; Guleria, Kiran

    2015-01-01

    Urethral diverticulum (UD) is a condition in which a variably sized outpouching forms, next to the urethra. Because it connects to the urethra, this outpouching repeatedly gets filled with urine during micturition, thus causing symptoms. In females, it presents as a bulge in anterior vagina, mimicking a vaginal wall cyst. Various aetiologies proposed attributing to urethral diverticulum formation is repeated infection of the periurethral gland, childbirth trauma, iatrogenic and urethral instrumentation. Patients of UD present with non specific irritative lower urinary tract symptoms such as increased frequency, urgency and dysuria; symptoms may not correlate with the size of the diverticulum. Recurrent cystitis or urinary tract infection is seen in one-third of patients. Pain, hematuria, post-void dribbling, dyspareunia, urinary retention or incontinence is other symptoms. In some cases, there may be associated urethral calculi or carcinoma. Magnetic resonance imaging (MRI) is highly sensitive and specific for the diagnosis of UD, although non invasive sonography may be the first line investigation. Treatment is by transvaginal diverticulectomy or marsupialization. A 60-year-old P9L6 postmenopausal lady, presented with a tender, hard suburethral anterior vaginal wall mass. Cystourethroscopy revealed a small opening in posterior urethra, with stone visible through it. With the final diagnosis of suburethral diverticulum with retained multiple calculi, excision of the diverticulum and repair of urethra was done vaginally. Correct evaluation and treatment of this condition can lead to avoidance of urinary tract injury. PMID:26557574

  1. Suture of the mucosa after the endoscopic LASER mucomyotomy of Zenker's diverticulum.

    PubMed

    Minovi, Carolina Morales; Minovi, Amir; Dost, Philipp

    2015-10-01

    The treatment of choice of Zenker's diverticulum is the rigid endoscopic mucomyotomy. At our ENT department, we usually perform an endoscopic mucosal suture after the myotomy. We diagnosed 49 patients and treated 39 patients between 2003 and 2013 due to a Zenker's diverticulum. We used the classification of Brombart to determine the size of the diverticulum. Surgery was performed as an endoscopic LASER mucomyotomy with mucosal sutures or as an open approach with diverticulectomy and myotomy. Patients were phoned to ask for their complaints postoperatively. The symptoms were classified using a visual scale from 0 (no complaint) until 10 (same or more complaints than before the surgery). The distribution of the diverticulum's size was: 6 patients Brombart I, 11 patients Brombart II, 14 patients Brombart III and 18 patients Brombart IV. 10 patients did not undergo surgery. With 33 patients, we performed an endoscopic operation and 6 patients underwent an open approach. The scale of postoperative complaints was the following: 20 patients (0/10), 12 patients (1/10 or 2/10), 3 patients (3/10), 1 patient (6/10) and 1 patient (10/10). None of the patients suffered from severe complications such as mediastinitis. In 85% of the cases, an endoscopic approach could be performed. Postoperatively, 94% of the patients did not have any or just mild complaints. The risk of severe complications or recurrence of the diverticulum is low. The mucosal suture might reduce the risk of infections. PMID:25164870

  2. Low-grade mucinous neoplasia in a cecal diverticulum: A case report

    PubMed Central

    Nakatani, Kazuyoshi; Tokuhara, Katsuji; Sakaguchi, Tatsuma; Ryota, Hironori; Yoshioka, Kazuhiko; Kon, Masanori

    2015-01-01

    Introduction Low-grade mucinous neoplasia is an uncommon benign tumor that develops in the appendix. The development of mucocele disease has never been reported in a colonic diverticulum. We present a case developing low-grade mucinous neoplasia in a cecal diverticulum. Presentation of case A tumor in the ileocecal region was found during a medical examination of a 66-year-old woman. Three months later, the tumor was still present and the patient developed abdominal pain. Laparoscopic ileocecal resection with D2 lymph node dissection was performed. Histopathological examination revealed a low-grade mucinous neoplasm in a cecal diverticulum. Discussion Colonic mucoceles reportedly originate from the appendix. There are no previous reports of mucocele disease in a colonic diverticulum worldwide. This report reviews and discusses the management of the appendiceal mucoceles. Conclusion The incidence of colonic diverticula has recently begun to increase in Japan. The possibility of a mucocele within a colonic diverticulum should be considered in patients with submucosal colonic tumors. PMID:26318130

  3. The uterine blush. A potential false-positive in Meckel's scan interpretation

    SciTech Connect

    Fink-Bennett, D.

    1982-10-01

    To determine the presence, prevalence, and clinical importance of /sup 99m/Tc pertechnetate uterine uptake, this retrospective analysis of 71 Meckel's scans was undertaken. Specifically, each study was evaluated for the presence of a focal accumulation of radiotracer cephalad to the bladder. Patients received an intravenous dose of 150 microCi/kg of /sup 99m/Tc pertechnetate. Each study consisted of 15 one minute anterior serial gamma camera images, and a 15, 30, and 60 minute anterior, right lateral and posterior scintiscan. Menstrual histories were obtained from all patients except two. No males (33/33), nor premenstrual (13/13), menopausal (4/4) or posthysterectomy (2/2) patients revealed a uterine blush. Eleven of 15 patients (73%) with regular menses demonstrated a uterine blush. They were in the menstrual or secretory phases of their cycle. Four demonstrated no uterine uptake, had regular periods, but were in the proliferative phase of their cycle. Two with irregular periods, and one with no recorded menstrual history, manifested the blush. Radiotracer should be expected in the uterus during the menstrual and secretory phases of the menstrual cycle. It is a manifestation of a normal physiologic phenomenon, and must be recognized to prevent false-positive Meckel's scan interpretations.

  4. Invasive urothelial carcinoma within a calyceal diverticulum associated with renal stones: A case report

    PubMed Central

    NAKANO, TAITO; KITAGAWA, YASUHIDE; IZUMI, KOUJI; IKEDA, HIROKO; NAMIKI, MIKIO

    2015-01-01

    Calyceal diverticula are rare outpouchings of the upper collecting system lying within the renal parenchyma. These often contain stones, however, carcinoma within a calyceal diverticulum is uncommon. The present study reports a case of invasive urothelial carcinoma within a calyceal diverticulum associated with renal stones. A 70-year-old male with a left renal mass identified by abdominal computed tomography was referred to the Department of Urology, Kanazawa University Hospital. Pre-operative diagnosis was difficult owing to an atypical imaging finding of a hypovascular renal mass with calcification. A laparoscopic nephroureterectomy was performed, and the surgical specimens showed invasive high-grade urothelial carcinoma within a calyceal diverticulum, and the calcifications were renal stones consisting of 97% calcium oxalate. Urothelial carcinoma in calyceal diverticula is a rare condition, however, a pre-operative definite diagnosis is difficult and a high potential for invasion of the renal parenchyma is suspected in this disease. PMID:26622866

  5. Endoscopic retrograde cholangiopancreatography in periampullary diverticulum: The challenge of cannulation.

    PubMed

    Altonbary, Ahmed Youssef; Bahgat, Monir Hussein

    2016-03-25

    Periampullary diverticulum (PAD) is duodenal outpunching defined as herniation of the mucosa or submucosa that occurs via a defect in the muscle layer within an area of 2 to 3 cm around the papilla. Although PAD is usually asymptomatic and discovered incidentally during endoscopic retrograde cholangiopancreatography (ERCP), it is associated with different pathological conditions such as common bile duct obstruction, pancreatitis, perforation, bleeding, and rarely carcinoma. ERCP has a low rate of success in patients with PAD, suggesting that this condition may complicate the technical application of the ERCP procedure. Moreover, cannulation of PAD can be challenging, time consuming, and require the higher level of skill of more experienced endoscopists. A large portion of the failures of cannulation in patients with PAD can be attributed to inability of the endoscopist to detect the papilla. In cases where the papilla is identified but does not point in a suitable direction for cannulation, different techniques have been described. Endoscopists must be aware of papilla identification in the presence of PAD and of different cannulation techniques, including their technical feasibility and safety, to allow for an informed decision and ensure the best outcome. Herein, we review the literature on this practical topic and propose an algorithm to increase the success rate of biliary cannulation. PMID:27014423

  6. Endoscopic retrograde cholangiopancreatography in periampullary diverticulum: The challenge of cannulation

    PubMed Central

    Altonbary, Ahmed Youssef; Bahgat, Monir Hussein

    2016-01-01

    Periampullary diverticulum (PAD) is duodenal outpunching defined as herniation of the mucosa or submucosa that occurs via a defect in the muscle layer within an area of 2 to 3 cm around the papilla. Although PAD is usually asymptomatic and discovered incidentally during endoscopic retrograde cholangiopancreatography (ERCP), it is associated with different pathological conditions such as common bile duct obstruction, pancreatitis, perforation, bleeding, and rarely carcinoma. ERCP has a low rate of success in patients with PAD, suggesting that this condition may complicate the technical application of the ERCP procedure. Moreover, cannulation of PAD can be challenging, time consuming, and require the higher level of skill of more experienced endoscopists. A large portion of the failures of cannulation in patients with PAD can be attributed to inability of the endoscopist to detect the papilla. In cases where the papilla is identified but does not point in a suitable direction for cannulation, different techniques have been described. Endoscopists must be aware of papilla identification in the presence of PAD and of different cannulation techniques, including their technical feasibility and safety, to allow for an informed decision and ensure the best outcome. Herein, we review the literature on this practical topic and propose an algorithm to increase the success rate of biliary cannulation. PMID:27014423

  7. Isolated congenital cardiac diverticulum originating from the left ventricular apex: Report of a pediatric case.

    PubMed

    Uysal, Fahrettin; Bostan, Ozlem Mehtap; Toprak, Muhammed Hamza Halil; Signak, Isik Senkaya; Cil, Ergun

    2016-01-01

    Congenital ventricular diverticulum is a rare cardiac anomaly defined as a localized protrusion of the ventricular free wall. Although, it is usually asymptomatic, complications such as embolism, infective endocarditis, and arrhythmias can occur. The diagnosis can be made by echocardiography, cardiac magnetic resonance imaging, or catheter angiography. Surgical resection is the treatment of choice in symptomatic patients, whereas the management of asymptomatic patients often represents a therapeutic dilemma. We report here, a 9-month-old patient with asymptomatic congenital left ventricular (LV) diverticulum associated with epigastric hernia. PMID:27212863

  8. Isolated congenital cardiac diverticulum originating from the left ventricular apex: Report of a pediatric case

    PubMed Central

    Uysal, Fahrettin; Bostan, Ozlem Mehtap; Toprak, Muhammed Hamza Halil; Signak, Isik Senkaya; Cil, Ergun

    2016-01-01

    Congenital ventricular diverticulum is a rare cardiac anomaly defined as a localized protrusion of the ventricular free wall. Although, it is usually asymptomatic, complications such as embolism, infective endocarditis, and arrhythmias can occur. The diagnosis can be made by echocardiography, cardiac magnetic resonance imaging, or catheter angiography. Surgical resection is the treatment of choice in symptomatic patients, whereas the management of asymptomatic patients often represents a therapeutic dilemma. We report here, a 9-month-old patient with asymptomatic congenital left ventricular (LV) diverticulum associated with epigastric hernia. PMID:27212863

  9. Primary squamous cell carcinoma of the urethral diverticulum mimicking prostate cancer: Case report and review of the literature

    PubMed Central

    Ekin, Rahmi Gokhan; Yildirim, Zubeyde; Bayol, Umit; Diniz, Gulden; Karaca, Cezmi; Zorlu, Ferruh

    2015-01-01

    Primary urethral carcinomas are uncommon, with urothelial carcinoma as the most common subtype. Urethral diverticulum is also rarely seen in men. A 44-year-old male presented with voiding symptoms. Abdominoperineal resection, prostatectomy, bladder neck excision, and proximal urethral excision were performed. A pathological examination revealed a well-differentiated squamous cell carcinoma (SCC) located inside an urethral diverticulum. We report this unusual case because primary SCC of the male urethral diverticulum is extremely rare. To our knowledge, our patient is only the second reported case. PMID:26029309

  10. Inverted Meckel’s diverticulum preoperatively diagnosed using double-balloon enteroscopy

    PubMed Central

    Takagaki, Kosuke; Osawa, Satoshi; Ito, Tatsuhiro; Iwaizumi, Moriya; Hamaya, Yasushi; Tsukui, Hiroe; Furuta, Takahisa; Wada, Hidetoshi; Baba, Satoshi; Sugimoto, Ken

    2016-01-01

    An inverted Meckel’s diverticulum is a rare gastrointestinal congenital anomaly that is difficult to diagnose prior to surgery and presents with anemia, abdominal pain, or intussusception. Here, we report the case of 57-year-old men with an inverted Meckel’s diverticulum, who was preoperatively diagnosed using double-balloon enteroscopy. He had repeatedly experienced epigastric pain for 2 mo. Ultrasonography and computed tomography showed intestinal wall thickening in the pelvis. Double-balloon enteroscopy via the anal route was performed for further examination, which demonstrated an approximately 8-cm, sausage-shaped, submucosal tumor located approximately 80 cm proximal to the ileocecal valve. A small depressed erosion was observed at the tip of this lesion. Forceps biopsy revealed heterotopic gastric mucosa. Thus, the patient was diagnosed with an inverted Meckel’s diverticulum, and single-incision laparoscopic surgery was performed. This case suggests that an inverted Meckel’s diverticulum should be considered as a differential diagnosis for a submucosal tumor in the ileum. Balloon-assisted enteroscopy with forceps biopsy facilitate a precise diagnosis of this condition. PMID:27158212

  11. [Chondroma adjacent to Meckel's cave mimicking a fifth cranial nerve neurinoma. A case report].

    PubMed

    Narro-Donate, Jose María; Huete-Allut, Antonio; Velasco-Albendea, Francisco J; Escribano-Mesa, Jose A; Mendez-Román, Paddy; Masegosa-González, Jose

    2016-01-01

    Cranial chondromas are tumours arising from chondrocyte embryonic remnants cells that usually appear in the skull base synchondrosis. In contrast to the rest of the organism, where chondroid tumours are the most common primary bone tumour just behind the haematopoietic lineage ones, they are a rarity at cranial level, with an incidence of less than 1% of intracranial tumours. The case is reported on a 42 year-old male referred to our clinic due to the finding of an extra-axial lesion located close to the Meckel's cave region, with extension to the posterior fossa and brainstem compression after progressive paraparesis of 6 months onset. With the diagnosis of trigeminal schwannoma, a subtotal tumour resection was performed using a combined supra-infratentorial pre-sigmoidal approach. The postoperative histopathology report confirmed the diagnosis of cranial chondroma. PMID:26944382

  12. Meckel's cartilage chondrocytes in organ culture synthesize bone-type proteins accompanying osteocytic phenotype expression.

    PubMed

    Ishizeki, K; Takigawa, M; Harada, Y; Suzuki, F; Nawa, T

    1996-01-01

    We examined whether Meckel's cartilage of embryonic mice, 17 days in utero, undergo the cellular transformation into the osteocyte-like phenotype under organ culture conditions. Explants were grown by our original pithole method modified Trowell-type cultures for up to 4 weeks at 37 degrees C under 5% CO2 in air. Specimens were examined using histological procedures including immunostaining and electron microscopy. In addition, the effects of beta-glycerophosphate on matrix calcification were also examined in cultures with or without beta-glycerophosphate. Addition of beta-glycerophosphate induced calcification at a higher level, but calcium mineral deposition occurred regardless of the addition of beta-glycerophosphate to the culture medium. Light and electron microscopic analyses showed that freshly isolated chondrocytes prior to cell culture had typical hypertrophic morphology, but shortly after commencement of culture, they showed morphological modifications. The cells showing chondrocytic phenotypes became basophilic elliptical cells, and eventually transformed into flattened osteocyte-like cells. Bone-like features for cellular elements were characterized by spindle-shaped cells with elongated processes accompanying bone-specific thick-banded collagen fibrils. Immunostaining showed that at 2 weeks in culture, type I and type II collagens coexisted in the matrix, but subsequently type II collagen synthesis ceased and was replaced by type I collagen synthesis. Immunofluorescent labeling for osteocalcin was noted first in the peripheral cells by 1 week, but at 3 weeks this reaction spread to the central zone in explants. Alkaline phosphatase activity (ALPase) was expressed on the cells in the central zone prior to calcium mineral deposition as shown by von Kossa's reaction at 3 weeks in culture. These results showed that Meckel's cartilage chondrocytes in organ culture synthesize bone-type proteins accompanying osteocytic phenotype expression. PMID:8838497

  13. Crouzon’s Syndrome with Life-Threatening Ear Bleed: Ruptured Jugular Vein Diverticulum Treated by Endovascular Embolization

    SciTech Connect

    Mondel, Prabath Kumar Anand, Sunanda Limaye, Uday S.

    2015-08-15

    Crouzon’s syndrome is the commonest variety of syndromic craniosynostosis. Life-threatening ear bleed due to ruptured jugular venous diverticulum in Crouzon’s syndrome has not been described previously. In patients with syndromic craniosynostosis, definitive repair of jugular diverticulum by open surgery is fraught with high risk of bleeding, poor functional outcomes, and even death. A 24-year-old woman with Crouzon’s syndrome presented with conductive hearing loss and recurrent episodes of torrential bleeding from her left ear. On computed tomography, a defect in the roof of jugular fossa containing jugular venous diverticulum immediately inferior to the bony external auditory canal was seen. The clinical presentation, imaging features, and endovascular management of Crouzon’s syndrome due to a ruptured jugular venous diverticulum is described.

  14. Meckel's diverticulectomy

    MedlinePlus

    ... Blockage of the intestine may occur later from adhesions caused by the surgery Before the Procedure Always ... the doctors and nurses will carefully monitor you. Treatment may include: Antibiotics to prevent or treat infection ...

  15. Single-Stage Total Arch Replacement Including Resection of Kommerell Diverticulum in a Patient With Loeys-Dietz Syndrome.

    PubMed

    Ong, Chin Siang; Kasai, Yuhei; Fukushima, Souta; Hibino, Narutoshi; Magruder, Trent; Suarez-Pierre, Alejandro; Cameron, Duke; Vricella, Luca

    2016-09-01

    Loeys-Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder associated with aortic aneurysmal disease. Kommerell diverticulum (KD) is a rare aortic diverticulum, for which the indication for surgery and the surgical techniques remain subjects of debate. We describe our experience with a successful total aortic arch replacement including KD resection through a median sternotomy for a pediatric patient with LDS. PMID:27521346

  16. Coil Embolization of Diverticulum of Kommerell: A Targeted Hybrid Endovascular Technique.

    PubMed

    Yu, Peter S Y; Yu, Simon C H; Ng, Cyrus T C; Kwok, Micky W T; Chow, Simon C Y; Ho, Jacky Y K; Underwood, Malcolm J; Wong, Randolph H L

    2016-05-01

    A 57-year-old man was incidentally found to have a dissected diverticulum of Kommerell originating from aberrant origin of right subclavian artery during follow-up for treated colon cancer. A right carotid-axillary bypass was followed by embolization of aberrant artery and the diverticulum by deployment of multiple detachable coils using the Penumbra Ruby System (Penumbra, Alameda, CA). Angiography after embolization showed exclusion of flow to the aberrant artery and a patent right carotid-axillary bypass. The patient recovered uneventfully and remained well for 12 weeks after the operation, without any complications. We believe this targeted endovascular approach can avoid complications related to the coverage of thoracic aorta and reduce the risk of access vessel trauma. PMID:27106460

  17. Zenker’s diverticulum: aetiopathogenesis, symptoms and diagnosis. Comparison of operative methods

    PubMed Central

    Nehring, Piotr

    2013-01-01

    Zenker’s diverticulum is an alimentary tract pouch localized in the area of the upper esophageal sphincter. Treatment procedure complications and coexisting diseases constitute a serious diagnostic and therapeutic problem. Characteristic symptoms and signs facilitate differential diagnosis, simultaneously being real patient maladies. There are many treatment procedures leading to pouch septum reduction and decrease of upper esophageal sphincter pressure. After years of experience in operating and endoscopic treatments we found it necessary to compare these different methods. PMID:24868270

  18. Techniques and efficacy of flexible endoscopic therapy of Zenker’s diverticulum

    PubMed Central

    Perbtani, Yaseen; Suarez, Alejandro; Wagh, Mihir S

    2015-01-01

    Zenker’s diverticulum (ZD) is an abnormal hypopharyngeal pouch often presenting with dysphagia. Treatment is often sought with invasive surgical management of the diverticulum being the only mode of definitive therapy. Primarily done by an open transcervical approach in the past, nowadays treatment is usually provided by otolaryngologists using a less invasive trans-oral technique with a rigid endoscope. When first described, this method grew into acceptance quickly due to its similar efficacy and vastly improved safety profile compared to the open transcervical approach. However, the main limitation with this approach is that it may not be suitable for all patients. Nonetheless, progress in the field of natural orifice endoscopic surgery over the last 10-20 years has led to the increase in utilization of the flexible endoscope in the treatment of ZD. Primarily performed by interventional gastroenterologists, this approach overcomes the prior limitation of its surgical counterpart and allows adequate visualization of the diverticulum independent of the patient’s body habitus. Additionally, it may be performed without the use of general anesthesia and in an outpatient setting, thus further increasing the utility of this modality, especially in elderly patients with other comorbidities. Today, results in more than 600 patients have been described in various published case series using different techniques and devices demonstrating a high percentage of clinical symptom resolution with low rates of adverse events. In this article, we present our experience with flexible endoscopic therapy of Zenker’s diverticulum and highlight the endoscopic technique, outcomes and adverse events related to this minimally invasive modality. PMID:25789090

  19. Meckel’s diverticulum mesentery along with its band forming a hernial sac: A rare case of internal herniation

    PubMed Central

    Pandove, Paras K.; Moudgil, Ashish; Pandove, Megha; Chandrashekhar; Sharda, Divya; Sharda, Vijay K.

    2015-01-01

    Introduction Meckel’s diverticulum is the most common congenital gastrointestinal anomaly. However, only 2% of cases are symptomatic. It can cause intestinal obstruction by various mechanisms as volvulus, adhesions, Littre’s hernia, intussusception. Case presentation An unusual case of internal herniation of small bowel loops into complete hernia sac formed by unusual mesentery of Meckel’s diverticulum which was present upto the adhesive band, extending from tip of the Meckel’s diverticulum to the adjacent mesentery of small intestine leading to small bowel obstruction (SBO). Diverticulectomy with resection of adjacent ileum with ileo-ileal anastomosis was done. Discussion Internal herniation by MD leading to SBO is an extremely rare complication. In literature, cases of internal hernia through mesentry of Meckel’s diverticulum, through mesodiverticular band, adhesion of inflamed end of MD to corresponding base of mesentry, fibrous cord extending upto umblical wall have been reported but in our case, patient had both adhesion band along with internal herniation into sac formed by unusual mesentry of the meckel’s diverticulum and the adhesion band. Preoperative diagnosis is often difficult with only 6–12% of cases diagnosed correctly. Surgical intervention is indicated for patients with intestinal obstruction or high risk of incarceration. Conclusion Meckel’s diverticulum causing internal hernia is rare event. It’s presentation due to herniation of bowel loops into sac formed by mesentery attached to diverticulum and the adhesion is rarest, with non specific signs and symptoms. Early diagnosis and prompt treatment prevent further complications. PMID:25790912

  20. Long segmental hyperplasia of interstitial cells of Cajal with giant diverticulum formation.

    PubMed

    Xue, Liyan; Qiu, Tian; Song, Ying; Shan, Ling; Liu, Xiuyun; Guo, Lei; Ying, Jianming; Zou, Shuangmei; Shi, Susheng; Polydorides, Alexandros D; Zhao, Xinming; Lu, Ning; Lin, Dongmei

    2013-01-01

    Sporadic gastrointestinal stromal tumors (GISTs) usually form a well-circumscribed mass. In contrast, diffuse interstitial cell of Cajal (ICC) hyperplasia along the Auerbach plexus without a discrete mass may occur in patients with germline mutations in the NF1, c-KIT or PDGFRA genes. However, sporadic, diffuse ICC hyperplasia without c-KIT or PDGFRA mutations has not been reported. We describe herein one such case, forming a giant diverticulum. A 63-year-old woman with no features of Neurofibromatosis 1 (NF1) presented with increasing abdominal pain for more than 30 years. A large, diverticulum-like mass in the ileum was resected. Microscopically, a diffuse proliferation of bland spindle cells was seen extending for 12 cm, replacing the muscularis propria and lined by intact mucosa. The spindle cells were CD117+/CD34+/DOG1+/SMA+/Desmin-/S100-. Mutation analyses did not reveal any mutations in c-KIT or PDGFRA. The lesion had two silent mutations in the NF1 gene. It is rare of the diffuse form of sporadic ICC hyperplasia showing diffuse longitudinal microscopic growth completely replacing the muscularis propria, mimicking diffuse ICC hyperplasia in hereditary GIST syndromes, but without solid components and no c-KIT or PDGFRA gene mutations. This peculiar form of sporadic ICC hyperplasia may be related to intestinal dysmotility in this ileal segment and giant diverticulum formation. PMID:24294389

  1. TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone

    PubMed Central

    Roberson, Elle C.; Dowdle, William E.; Ozanturk, Aysegul; Garcia-Gonzalo, Francesc R.; Li, Chunmei; Halbritter, Jan; Elkhartoufi, Nadia; Porath, Jonathan D.; Cope, Heidi; Ashley-Koch, Allison; Gregory, Simon; Thomas, Sophie; Sayer, John A.; Saunier, Sophie; Otto, Edgar A.; Katsanis, Nicholas; Davis, Erica E.; Attié-Bitach, Tania; Hildebrandt, Friedhelm; Leroux, Michel R.

    2015-01-01

    The Meckel syndrome (MKS) complex functions at the transition zone, located between the basal body and axoneme, to regulate the localization of ciliary membrane proteins. We investigated the role of Tmem231, a two-pass transmembrane protein, in MKS complex formation and function. Consistent with a role in transition zone function, mutation of mouse Tmem231 disrupts the localization of proteins including Arl13b and Inpp5e to cilia, resulting in phenotypes characteristic of MKS such as polydactyly and kidney cysts. Tmem231 and B9d1 are essential for each other and other complex components such as Mks1 to localize to the transition zone. As in mouse, the Caenorhabditis elegans orthologue of Tmem231 localizes to and controls transition zone formation and function, suggesting an evolutionarily conserved role for Tmem231. We identified TMEM231 mutations in orofaciodigital syndrome type 3 (OFD3) and MKS patients that compromise transition zone function. Thus, Tmem231 is critical for organizing the MKS complex and controlling ciliary composition, defects in which cause OFD3 and MKS. PMID:25869670

  2. Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

    PubMed Central

    Baala, Lekbir ; Audollent, Sophie ; Martinovic, Jéléna ; Ozilou, Catherine ; Babron, Marie-Claude ; Sivanandamoorthy, Sivanthiny ; Saunier, Sophie ; Salomon, Rémi ; Gonzales, Marie ; Rattenberry, Eleanor ; Esculpavit, Chantal ; Toutain, Annick ; Moraine, Claude ; Parent, Philippe ; Marcorelles, Pascale ; Dauge, Marie-Christine ; Roume, Joëlle ; Merrer, Martine Le ; Meiner, Vardiella ; Meir, Karen ; Menez, Françoise ; Beaufrère, Anne-Marie ; Francannet, Christine ; Tantau, Julia ; Sinico, Martine ; Dumez, Yves ; MacDonald, Fiona ; Munnich, Arnold ; Lyonnet, Stanislas ; Gubler, Marie-Claire ; Génin, Emmanuelle ; Johnson, Colin A. ; Vekemans, Michel ; Encha-Razavi, Férechté ; Attié-Bitach, Tania 

    2007-01-01

    Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations, polydactyly, multicystic kidney dysplasia, and ductal changes of the liver. Three loci have been mapped (MKS1–MKS3), and two genes have been identified (MKS1/FLJ20345 and MKS3/TMEM67), whereas the gene at the MKS2 locus remains unknown. To identify new MKS loci, a genomewide linkage scan was performed using 10-cM–resolution microsatellite markers in eight families. The highest heterogeneity LOD score was obtained for chromosome 12, in an interval containing CEP290, a gene recently identified as causative of Joubert syndrome (JS) and isolated Leber congenital amaurosis. In view of our recent findings of allelism, at the MKS3 locus, between these two disorders, CEP290 was considered a candidate, and homozygous or compound heterozygous truncating mutations were identified in four families. Sequencing of additional cases identified CEP290 mutations in two fetuses with MKS and in four families presenting a cerebro-reno-digital syndrome, with a phenotype overlapping MKS and JS, further demonstrating that MKS and JS can be variable expressions of the same ciliopathy. These data identify a fourth locus for MKS (MKS4) and the CEP290 gene as responsible for MKS. PMID:17564974

  3. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.

    PubMed

    Baala, Lekbir; Romano, Stephane; Khaddour, Rana; Saunier, Sophie; Smith, Ursula M; Audollent, Sophie; Ozilou, Catherine; Faivre, Laurence; Laurent, Nicole; Foliguet, Bernard; Munnich, Arnold; Lyonnet, Stanislas; Salomon, Remi; Encha-Razavi, Ferechte; Gubler, Marie-Claire; Boddaert, Nathalie; de Lonlay, Pascale; Johnson, Colin A; Vekemans, Michel; Antignac, Corinne; Attie-Bitach, Tania

    2007-01-01

    Joubert syndrome (JS) is an autosomal recessive disorder characterized by cerebellar vermis hypoplasia associated with hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. The association of retinal dystrophy and renal anomalies defines JS type B. JS is a genetically heterogeneous condition with mutations in two genes, AHI1 and CEP290, identified to date. In addition, NPHP1 deletions identical to those that cause juvenile nephronophthisis have been identified in a subset of patients with a mild form of cerebellar and brainstem anomaly. Occipital encephalocele and/or polydactyly have occasionally been reported in some patients with JS, and these phenotypic features can also be observed in Meckel-Gruber syndrome (MKS). MKS is a rare, autosomal recessive lethal condition characterized by central nervous system malformations (typically, occipital meningoencephalocele), postaxial polydactyly, multicystic kidney dysplasia, and ductal proliferation in the portal area of the liver. Since there is obvious phenotypic overlap between JS and MKS, we hypothesized that mutations in the recently identified MKS genes, MKS1 on chromosome 17q and MKS3 on 8q, may be a cause of JS. After mutation analysis of MKS1 and MKS3 in a series of patients with JS (n=22), we identified MKS3 mutations in four patients with JS, thus defining MKS3 as the sixth JS locus (JBTS6). No MKS1 mutations were identified in this series, suggesting that the allelism is restricted to MKS3. PMID:17160906

  4. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

    PubMed Central

    Valente, Enza Maria; Logan, Clare V.; Mougou-Zerelli, Soumaya; Lee, Jeong Ho; Silhavy, Jennifer L.; Brancati, Francesco; Iannicelli, Miriam; Travaglini, Lorena; Romani, Sveva; Illi, Barbara; Adams, Matthew; Szymanska, Katarzyna; Mazzotta, Annalisa; Lee, Ji Eun; Tolentino, Jerlyn C.; Swistun, Dominika; Salpietro, Carmelo D.; Fede, Carmelo; Gabriel, Stacey; Russ, Carsten; Cibulskis, Kristian; Sougnez, Carrie; Hildebrandt, Friedhelm; Otto, Edgar A.; Held, Susanne; Diplas, Bill H.; Davis, Erica; Mikula, Mario; Strom, Charles M.; Ben-Ze’ev, Bruria; Lev, Dorit; Sagie, Tally Lerman; Michelson, Marina; Yaron, Yuval; Krause, Amanda; Boltshauser, Eugen; Elkhartoufi, Nadia; Roume, Joelle; Shalev, Stavit; Munnich, Arnold; Saunier, Sophie; Inglehearn, Chris; Saad, Ali; Alkindy, Adila; Thomas, Sophie; Vekemans, Michel; Dallapiccola, Bruno; Katsanis, Nicholas; Johnson, Colin A.; Attié-Bitach, Tania; Gleeson, Joseph G.

    2010-01-01

    Joubert syndrome (JBTS), related disorders (JSRD) and Meckel syndrome (MKS) are ciliopathies. We now report that MKS2 and JBTS2 loci are allelic and due to mutations in TMEM216, encoding an uncharacterized tetraspan transmembrane protein. JBTS2 patients displayed frequent nephronophthisis and polydactytly, and two cases conformed to the Oro-Facio-Digital type VI phenotype, whereas skeletal dysplasia was common in MKS fetuses. A single p.R73L mutation was identified in all patients of Ashkenazi Jewish descent (n=10). TMEM216 localized to the base of primary cilia, and loss of TMEM216 in patient fibroblasts or following siRNA knockdown caused defective ciliogenesis and centrosomal docking, with concomitant hyperactivation of RhoA and Dishevelled. TMEM216 complexed with Meckelin, encoded by a gene also mutated in JSRD and MKS. Abrogation of tmem216 expression in zebrafish led to gastrulation defects that overlap with other ciliary morphants. The data implicate a new family of proteins in the ciliopathies, and further support allelism between ciliopathy disorders. PMID:20512146

  5. Giant colonic diverticulum: Clinical presentation, diagnosis and treatment: Systematic review of 166 cases

    PubMed Central

    Nigri, Giuseppe; Petrucciani, Niccolò; Giannini, Giulia; Aurello, Paolo; Magistri, Paolo; Gasparrini, Marcello; Ramacciato, Giovanni

    2015-01-01

    AIM: To investigate the clinical presentation, diagnosis, and treatment of giant colonic diverticulum (GCD, by means of a complete and updated literature review). GCD is a rare manifestation of diverticular disease of the colon. Less than 200 studies on GCD were published in the literature, predominantly case reports or small patient series. METHODS: A systematic review of the literature was performed using the Embase and PubMed databases to identify all the GCD studies. The following MESH search headings were used: “giant colonic diverticulum”; “giant sigmoid diverticulum”. The “related articles” function was used to broaden the search, and all of the abstracts, studies, and citations were reviewed by two authors. The following outcomes were of interest: the disease and patient characteristics, study design, indications for surgery, type of operation, and post-operative outcomes. Additionally, a subgroup analysis of cases treated in the last 5 years was performed to show the current trends in the treatment of GCD. A GCD case in an elderly patient treated in our department by a sigmoidectomy with primary anastomosis and a diverting ileostomy is presented as a typical example of the disease. RESULTS: In total, 166 GCD cases in 138 studies were identified in the literature. The most common clinical presentation was abdominal pain, which occurred in 69% of the cases. Among the physical signs, an abdominal mass was detected in 48% of the cases, whereas 20% of the patients presented with fever and 14% with abdominal tenderness. Diagnosis is based predominantly on abdominal computed tomography. The most frequent treatment was colic resection with en-bloc resection of the diverticulum, performed in 57.2% of cases, whereas Hartmann’s procedure was followed in 11.4% of the cases and a diverticulectomy in 10.2%. An analysis of sixteen cases reported in the last 5 years showed that the majority of patients were treated with sigmoidectomy and en-bloc resection of

  6. Traumatic rupture of a Meckel’s diverticulum due to blunt abdominal trauma in a soccer game: A case report

    PubMed Central

    Tummers, W.S.; van der Vorst, J.R.; Swank, D.J.

    2015-01-01

    Introduction a Meckel’s diverticulum is one of the most common congenital anomalies of the digestive tract. The reported lifetime complication rate is 4%, mostly due to hemorrhage, obstruction, perforation or inflammation. A symptomatic Meckel’s diverticulum due to rupture after blunt abdominal trauma is very rare. We believe this case report is the first reporting a rupture of a Meckel’s diverticulum after a low velocity blunt abdominal trauma and outlining the importance of a thorough and complete examination of the patient after blunt abdominal trauma. Presentation of case a 17-year-old male presented with abdominal pain after blunt abdominal trauma during a soccer game. Physical examination showed signs of peritonitis in all quadrants of the abdomen. During admission the patient deteriorated with decreasing blood pressure and raising pulse rate. A CT-scan showed free abdominal fluid. Our patient was scheduled for an emergent laparotomy where a perforated Meckel’s diverticulum with fecal spill was found. A segmental ileal resection was performed. Post-operative, patient developed a pneumonia and also intra-abdominal abscesses treated with percutaneous drainage. After an admission period of 17-days the patient was discharged. Conclusion perforation of a Meckel’s diverticulum is rarely suspected as a cause of acute deterioration following blunt abdominal trauma. This case shows the importance of awareness of this kind of injury especially in male patients. PMID:26701844

  7. The water jet deformation sign: a novel provocative colonoscopic maneuver to help diagnose an inverted colonic diverticulum.

    PubMed

    Cappell, Mitchell S

    2009-03-01

    Colonoscopic differentiation of an inverted colonic diverticulum from a true colonic polyp is important because a true colonic polyp usually requires colonoscopic snare polypectomy or at least biopsy, whereas these maneuvers are contraindicated for an inverted diverticulum due to the risk of colonic perforation. Previously described diagnostic maneuvers to evert an inverted diverticulum include probing it with a closed biopsy forceps or intraluminal air insufflation during colonoscopy. On colonoscopy, a 59-year-old female had two intraluminal colonic projections. Probing these projections and using air insufflation failed to indent or evert them. Spraying these lesions with a water jet, however, flattened or partly everted them. This novel maneuver provided conclusive evidence that these intraluminal projections represented inverted diverticula. The proposed pathophysiology is that water pressure causes an inverted diverticulum to indent or evert due to its thin wall. The currently reported maneuver may be easier and safer than probing an inverted diverticulum with biopsy forceps and may prove a more reliable diagnostic maneuver than air insufflation. PMID:19204608

  8. Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development

    PubMed Central

    Barker, Amy R; Thomas, Rhys; Dawe, Helen R

    2014-01-01

    The ciliopathies are a group of related inherited diseases characterized by malformations in organ development. The diseases affect multiple organ systems, with kidney, skeleton, and brain malformations frequently observed. Research over the last decade has revealed that these diseases are due to defects in primary cilia, essential sensory organelles found on most cells in the human body. Here we discuss the genetic and cell biological basis of one of the most severe ciliopathies, Meckel-Gruber syndrome, and explain how primary cilia contribute to the development of the affected organ systems. PMID:24322779

  9. Occasional finding of giant bladder diverticulum that simulated an ovarian cyst: A case report and literature review.

    PubMed

    Braga, Andrea; Serati, Maurizio; Vitelli, Angela; Caccia, Giorgio

    2016-03-01

    We present a case of a preoperatively unrecognized giant bladder diverticulum in a 63-year-old postmenopausal woman. We carried out preoperative ultrasonographic evaluation and suspected an ovarian cyst. We performed two transvaginal ultrasonography scans before surgery, asking the patient to totally empty her bladder. Consequently, we decided to subject the patient to laparoscopic cyst removal. However, during surgery, the presumed ovarian cyst was not found and a bladder diverticulum was suspected. To confirm our hypothesis, we filled the bladder with saline until the reappearance of giant swelling and we recognized a bladder diverticulum. This case shows that diagnosis based on imaging alone can reveal unpleasant pitfalls. It is important to integrate clinical information, and to consider other possible investigations in order to reduce the chances of a misdiagnosis. PMID:26787074

  10. Large diverticulum of the urinary bladder: A rare cause of deep vein thrombosis with consecutive pulmonary embolism.

    PubMed

    Zimmermann, Oliver; Torzewski, Jan; Reichenbach-Klinke, Ekkehard; Zenk, Christine

    2015-01-01

    A 73-year-old man was admitted with progressive dyspnea; he also had benign prostatic hyperplasia (BPH). An angio computed tomography scan showed pulmonary embolism with thrombi in both main pulmonary arteries. By duplex ultrasonography, we detected a thrombus in the right vena femoralis superficialis and vena femoralis communis. Simultaneously, we also noticed a large diverticulum on the right side of the urinary bladder and urinary stasis II of the left kidney. We consider the BPH as the trigger for a secondary diverticulum of the urinary bladder. As a result of its large dimensions, mechanical compression of the deep right pelvic veins resulted in thrombosis which finally caused the pulmonary embolism. With respect to the urinary stasis II, surgical excavation of the diverticulum with infravesical desobstruction was planned. The potentially lethal course of large diverticula may require surgery. PMID:26029307

  11. The expression of pregnancy-specific {beta}1-glycoprotein genes in Meckel-Gruber syndrome fibroblasts

    SciTech Connect

    Wu, Shao-Ming; Cham, Wai-Yee

    1994-09-01

    Meckel-Gruber syndrome (MS) is an autosomal recessive disorder with multiple congenital malformations. The only available prenatal diagnostic marker for this disorder is the amniotic fluid level of pregnancy-specific {beta}1-glycoprotein (PSG). PSG is a family of proteins which are expressed at high levels during pregnancy. Increasing maternal serum PSG levels correlate with the progression of pregnancy and can be used as indicators for pregnancy outcome and fetal well-being. The amniotic fluid PSG level is about one-tenth of that of the maternal serum level in normal pregnancy, but are elevated in all cases of MS examined so far. On the other hand, the maternal serum PSG level and third trimester placental PSG content are normal in most cases of MS. This study aims at comparing the expression of PSG in fibroblasts derived from a fetus afflicted with MS. Total cellular RNA was extracted from two MS cultured fibroblast lines (M3206 and GM7817) and four age- and sex-matched control fibroblast lines obtained from the Human Genetic Mutant Cell Repository, Camden, NJ. The expression of eight PSG genes namely, PSG1, PSG2, PSG3, PSG4, PSG5, PSG6, PSG9 and PSG11, were examined with reverse transcription-polymerase chain reaction (RT-PCR). All PSG transcripts present in the cell were first amplified using universal primers in a 28-cycle PCR. Specific PSG gene products were then amplified with PSG gene-specific primers. Results showed that there is no significant difference in PSG expression between control and disease fibroblasts. In both cases, the most abundant transcript was the type II transcript of PSG5 followed by the type I transcripts of PSG1 and PG4. PSG9, PSG11 and PSG 3 were expressed at very low levels or not expressed at all in MS as well as in normal control fibroblasts. These results showed that PSG gene expression was not altered in MS fibroblasts.

  12. Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome

    PubMed Central

    Dowdle, William E.; Robinson, Jon F.; Kneist, Andreas; Sirerol-Piquer, M. Salomé; Frints, Suzanna G.M.; Corbit, Kevin C.; Zaghloul, Norran A.; van Lijnschoten, Gesina; Mulders, Leon; Verver, Dideke E.; Zerres, Klaus; Reed, Randall R.; Attié-Bitach, Tania; Johnson, Colin A.; García-Verdugo, José Manuel; Katsanis, Nicholas; Bergmann, Carsten; Reiter, Jeremy F.

    2011-01-01

    Nearly every ciliated organism possesses three B9 domain-containing proteins: MKS1, B9D1, and B9D2. Mutations in human MKS1 cause Meckel syndrome (MKS), a severe ciliopathy characterized by occipital encephalocele, liver ductal plate malformations, polydactyly, and kidney cysts. Mouse mutations in either Mks1 or B9d2 compromise ciliogenesis and result in phenotypes similar to those of MKS. Given the importance of these two B9 proteins to ciliogenesis, we examined the role of the third B9 protein, B9d1. Mice lacking B9d1 displayed polydactyly, kidney cysts, ductal plate malformations, and abnormal patterning of the neural tube, concomitant with compromised ciliogenesis, ciliary protein localization, and Hedgehog (Hh) signal transduction. These data prompted us to screen MKS patients for mutations in B9D1 and B9D2. We identified a homozygous c.301A>C (p.Ser101Arg) B9D2 mutation that segregates with MKS, affects an evolutionarily conserved residue, and is absent from controls. Unlike wild-type B9D2 mRNA, the p.Ser101Arg mutation failed to rescue zebrafish phenotypes induced by the suppression of b9d2. With coimmunoprecipitation and mass spectrometric analyses, we found that Mks1, B9d1, and B9d2 interact physically, but that the p.Ser101Arg mutation abrogates the ability of B9d2 to interact with Mks1, further suggesting that the mutation compromises B9d2 function. Our data indicate that B9d1 is required for normal Hh signaling, ciliogenesis, and ciliary protein localization and that B9d1 and B9d2 are essential components of a B9 protein complex, disruption of which causes MKS. PMID:21763481

  13. Total endovascular repair of aberrant left subclavian artery with Kommerell's diverticulum using a customized branched device.

    PubMed

    Silveira, Pierre Galvagni; Franklin, Rafael Narciso; Cunha, Josué Rafael Ferreira; Neves, Thais Torres; Nascimento, Gilberto Galego; Bortoluzzi, Cristiano Torres

    2013-04-01

    We describe a case of Kommerell's diverticulum involving the distal portion of a right-sided aortic arch and the origin of an aberrant left subclavian artery (LSA). The patient underwent a total endovascular repair with the use of a modified Valiant endograft (Medtronic, Minneapolis, Minn) to which a branch was attached to keep LSA patency. Postoperative computed tomography showed complete exclusion of the lesion, without endoleaks. The use of "customized off-label" devices to treat special conditions was feasible in this case, keeping patency of the LSA without risk of arm claudication or the requirement for a complementary surgical bypass. PMID:23312832

  14. Imaging diagnosis--Vertebral canal porcupine quill with presumptive secondary arachnoid diverticulum.

    PubMed

    Schneider, Adam R; Chen, Annie V; Tucker, Russell L

    2010-01-01

    A 3-year-old Gordon Setter developed cervical hyperesthesia and a stiff gait. Upon magnetic resonance (MR) imaging, an arachnoid diverticulum was detected at the C1 level. Upon surgical resection, a porcupine quill was identified within the vertebral canal in the area of the cyst. At a retrospective review of the MR images, the quill appeared as a circular well-demarcated T2-hypointense lesion. Porcupine quill migrations are common in the dog but migration into the central nervous system is rare. PMID:20402400

  15. A rare cause of acute abdominal disease: two reports of caecal diverticulum perforation.

    PubMed

    Çiftci, Fatih; Abdurrahman, İbrahim; Eren, Abdülkadir

    2016-05-01

    Diverticulum of the caecum is a rare lesion. From a clinical point of view, the inflammation it causes can mimic symptoms of acute appendicitis, causing difficulties in diagnosis and thus prescription of appropriate treatment. It is almost impossible to differentiate this disease from acute appendicitis through physical examination alone, and radiological imaging may also prove insufficient. For this reason, it is common to perioperatively diagnose diverticula of the caecum. Two cases of patients who underwent surgery for perforated caecal diverticula are presently described. PMID:27598596

  16. Primary osteosarcoma of bladder diverticulum mimicking intradiverticular calculus: a case report

    PubMed Central

    2011-01-01

    There is a well-documented relationship between urinary bladder diverticula and intradiverticular neoplasms. The great majorities of these tumors are urothelial carcinomas, but may also be of glandular or squamous type. Sarcomas occurring within bladder diverticula are exceptionally rare and highly malignant lesions, with only 20 well documented cases published in the literature to date (including carcinosarcomas). We report a case of osteosarcoma of the bladder diverticulum in a 68-year old man, which clinically mimicked intradiverticular calculus. To our knowledge, this is the second case described in the literature to date, and the first in English literature. PMID:21496355

  17. Right Ventricular Outflow Tract Tachycardia with Structural Abnormalities of the Right Ventricle and Left Ventricular Diverticulum

    PubMed Central

    Martini, Bortolo; Trevisi, Nicola; Martini, Nicolò; Zhang, Li

    2015-01-01

    A 43-year-old woman presented to the emergency room with a sustained ventricular tachycardia (VT). ECG showed a QRS in left bundle branch block morphology with inferior axis. Echocardiography, ventricular angiography, and cardiac magnetic resonance imaging (CMRI) revealed a normal right ventricle and a left ventricular diverticulum. Electrophysiology studies with epicardial voltage mapping identified a large fibrotic area in the inferolateral layer of the right ventricular wall and a small area of fibrotic tissue at the anterior right ventricular outflow tract. VT ablation was successfully performed with combined epicardial and endocardial approaches. PMID:26509086

  18. Long-term outcome and quality of life after transoral stapling for Zenker diverticulum

    PubMed Central

    Bonavina, Luigi; Aiolfi, Alberto; Scolari, Federica; Bona, Davide; Lovece, Andrea; Asti, Emanuele

    2015-01-01

    AIM: To investigate long-term results and quality of life after transoral stapling of Zenker diverticulum. METHODS: The data of all patients admitted to our institution for the surgical treatment of Zenker diverticulum were entered into a prospective database. Demographics, symptoms, intraoperative and postoperative data, morbidity, time to oral feeding, and length of hospital stay were recorded. All patients underwent upper gastrointestinal endoscopy and a barium swallow study to measure the length of the diverticulum from the apex of the septum to the bottom of the pouch. Transoral stapling was performed using a Weerda diverticuloscope under general anesthesia. Over time, the technique was modified by applying traction sutures to ease engagement of the common septum inside the stapler jaws. Perioperative variables, symptoms, long-term outcome, and quality of life were analyzed. The operation was considered successful if the patient reported complete remission (grade 1) or marked improvement (grade 2) of dysphagia, regurgitation, and respiratory symptoms. Statistical analysis was performed using Statistical Package for Social Science (SPSS, Version 15, SPSS, Inc., Chicago, IL). RESULTS: Between 2001 and 2013, the transoral approach was successfully completed in 100 patients with a median age of 75 years. Patients with a larger (≥ 3 cm) diverticulum were older than those with a smaller pouch (P < 0.038). Complications occurred in 4% of the patients but there was no mortality. A statistically significant improvement of dysphagia and regurgitation scores (P < 0.001) was recorded over a median follow-up of 63 mo. Similarly, a significant decrease in the median number of pneumonia episodes per year (P < 0.001) was recorded after surgery. The overall long-term success rate of the procedure was 76%. The success rate of the operation was greater in patients of 70 years of age or older compared to younger individuals (P = 0.038). Use of traction sutures on the septum was

  19. Efficacy of Combined Laparoscopic and Hysteroscopic Repair of Post-Cesarean Section Uterine Diverticulum: A Retrospective Analysis

    PubMed Central

    Li, Cuilan; Tang, Shiyan; Gao, Xingcheng; Lin, Wanping; Han, Dong; Zhai, Jinguo; Mo, Xuetang; Zhou, Lee Jaden Gil Yu Kang

    2016-01-01

    Background. Diverticulum, one of the long-term sequelae of cesarean section, can cause abnormal uterine bleeding and increase the risk of uterine scar rupture. In this study, we aimed to evaluate the efficacy of combined laparoscopic and hysteroscopic repair, a newly occurring method, treating post-cesarean section uterine scar diverticulum. Methods. Data relating to 40 patients with post-cesarean section uterine diverticulum who underwent combined laparoscopic and hysteroscopic repair were retrospectively analyzed. Preoperative clinical manifestations, size of uterine defects, thickness of the lower uterine segment (LUS), and duration of menstruation were compared with follow-up findings at 1, 3, and 6 months after surgery. Results. The average preoperative length and width of uterine diverticula and thickness of the lower uterine segment were recorded and analyzed. The average durations of menstruations at 1, 3, and 6 months after surgery were significantly shorter than the preoperative one (p < 0.05), respectively. At 6 months after surgery, the overall success improvement rate of surgery was 90% (36/40). Three patients (3/40 = 7.5%) developed partial improvement, and 1/40 (2.5%) was lost to follow-up. Conclusions. Our findings showed that combined treatment with laparoscopy and hysteroscopy was an effective method for the repair of post-cesarean section uterine diverticulum. PMID:27066497

  20. Transabdominal Robot-Assisted Laparoscopic Urethral Diverticulectomy of a Complex Anterior Horseshoe Diverticulum of the Proximal Urethra

    PubMed Central

    Sivarajan, Ganesh; Glickman, Leonard; Faber, Kenneth; Kim, Michelle; Fromer, Debra

    2015-01-01

    Abstract Complex, proximal, anteriorly located urethral diverticula present the reconstructive urologist with a uniquely challenging task for repair through a conventional transvaginal approach. Herein, we present the first report of urethral diverticulectomy to excise a large, anterior, horseshoe-shaped urethral diverticulum that resulted in bladder outlet obstruction, using a transabdominal robot-assisted laparoscopic approach.

  1. [Emergency Thoracic Endovascular Aortic Repair of Ruptured Kommerell's Diverticulum with an Acute Aortic Dissection].

    PubMed

    Seguchi, Ryuta; Ohtake, Hiroshi; Yoshimura, Takahiro; Shintani, Yoshiko; Nishida, Yuji; Kiuchi, Ryuta; Yamaguchi, Shojiro; Tomita, Shigeyuki; Sanada, Junichiro; Matsui, Osamu; Watanabe, Go

    2016-06-01

    This case report describes emergency thoracic endovascular aortic repair (TEVAR) of a ruptured Kommerell's diverticulum associated with a type B acute aortic dissection in a patient with a right aortic arch. A 64-year-old male was admitted with symptoms of sudden paraplegia and shock. The computed tomography imaging showed right aortic arch anomaly, with mirror image branching of the major arteries. The aorta was dissected from the origin of the right subclavian artery to the terminal aorta, with a thrombosed false lumen. Rupture was found in a 6.3 cm aneurysm located in the distal arch, which was diagnosed as Kommerell's diverticulum. We performed emergency TEVAR, and the aneurysm was successfully excluded using deployment of a Gore Tag stent-graft. At 3 months' follow-up, the patient was doing well and showed shrinkage of the aneurysm was confirmed. TEVAR is considered to be a suitable procedure for an emergency aortic catastrophe even in patients with aortic anomaly. PMID:27246128

  2. Gastric Diverticulum: “A Wayside House of Ill Fame” with a Laparoscopic Solution

    PubMed Central

    DuBois, Ben; Powell, Ben

    2012-01-01

    Background: Gastric diverticulum (GD) is an extremely rare disorder that can easily be overlooked when investigating the cause of abdominal pain. Its diagnosis is founded on a history of gastrointestinal symptoms and a typically unrevealing physical examination, and diagnosis requires confirmation from UGI contrast studies, EGD, and CT scan. Symptomatic GD should be kept in consideration as a cause of abdominal issues, because not only is it treatable, but also complications of GD can be life threatening. The surgical treatment of GDs has evolved from thoraco-abdominal incisions in the early twentieth century to the laparoscopic approach used today. Case Report: The patient is a 45-y-old male presenting with a 4-mo case of dysphagia, small amounts of regurgitation, and abdominal pain but no other symptoms. Results: The patient was diagnosed with a gastric diverticulum, which was subsequently successfully treated with a laparoscopic gastric diverticulectomy. Conclusion: Laparoscopic gastric diverticulectomy is a safe procedure and should be considered as an option to treat symptomatic GD. PMID:23318077

  3. Long-term results of endosurgical and open surgical approach for Zenker diverticulum

    PubMed Central

    Bonavina, Luigi; Bona, Davide; Abraham, Medhanie; Saino, Greta; Abate, Emmanuele

    2007-01-01

    AIM: To assess the effectiveness of minimally invasive versus traditional open surgical approach in the treatment of Zenker diverticulum. METHODS: Between 1976 and 2006, 297 patients underwent transoral stapling (n = 181) or stapled diverticulectomy and cricopharyngeal myotomy (n = 116). Subjective and objective evaluations of the outcome of the two procedures were made at 1 and 6 mo after operation, and then every year. Long-term follow-up data were available for a subgroup of patients at a minimum of 5 and 10 years. RESULTS: The operative time and hospital stay were markedly reduced in patients undergoing the endosurgical approach. Overall, 92% of patients undergoing the endosurgical approach and 94% of those undergoing the open approach were symptom-free or were significantly improved after a median follow-up of 27 and 48 mo, respectively. At a minimum follow-up of 5 and 10 years, most patients were asymptomatic after both procedures, except for those individuals undergoing an endosurgical procedure for a small diverticulum (< 3 cm). CONCLUSION: Both operations relieve the outflow obstruction at the pharyngoesophageal junction, indicating that cricopharyngeal myotomy has an important therapeutic role in this disease independent of the resection of the pouch and of the surgical approach. Diverticula smaller than 3 cm represent a formal contraindication to the endosurgical approach because the common wall is too short to accommodate one cartridge of staples and to allow complete division of the sphincter. PMID:17552006

  4. Tracheal diverticulum: an unusual cause of chronic cough and recurrent respiratory infections.

    PubMed

    Takhar, Rajendra Prasad; Bunkar, Motilal; Jain, Shubhra; Ghabale, Sanjay

    2016-03-01

    Tracheal diverticulum (TD) defined as a typical benign out-pouching of the tracheal wall due to structural weakness, congenital or acquired in origin, resulting in paratracheal air cysts. It is rarely diagnosed in clinical practice with only limited reports in the literature. Most cases found incidentally in the postmortem examination and located on the right side. Uncomplicated TDs are usually asymptomatic and when symptoms have occurred, they usually present with non-specific symptoms like pharyngeal discomfort, cough, dyspnea, and recurrent respiratory infection due to either the compression of adjacent organs or secondary bacterial infection. Imaging techniques like thoraco-cervical multi-slice spiral computed tomography (CT) and fiber-optic bronchoscopy are important diagnostic tools for this entity. Asymptomatic TDs usually require no treatment and managed conservatively while surgical excision is indicated in cases of compression of adjacent organs and recurrent infections. Here we report a case of tracheal diverticulum on the left side, which was diagnosed as part of a work-up for chronic cough and recurrent chest infection in a 40 year old female who was already on bronchodilator without any relief. Diagnosis of TD was based on findings of computed tomography, revealing small bud like projection on left para tracheal region and further confirmed by fiber-optic bronchoscopy while the barium contrast study showed no esophageal communication. She was managed conservatively and referred for surgical excision. PMID:27266290

  5. [A Case of Penetrating Diverticulum of the Small Intestine that Occurred during Chemotherapy for Esophageal Cancer].

    PubMed

    Yoshida, Yuta; Kawabata, Ryohei; Yoshikawa, Masato; Kameda, Chizu; Koga, Chikato; Murakami, Masahiro; Hitora, Toshiki; Hirota, Masaki; Ikenaga, Masakazu; Shimizu, Junzo; Miwa, Hideaki; Hasegawa, Junichi

    2015-11-01

    An 80-year-old man was seen by his family doctor with chief complaints of fatigue and loss of appetite. Upper gastrointestinal endoscopy showed a type 2 tumor of the lower thoracic esophagus, and the patient was referred to our hospital. Squamous cell carcinoma was diagnosed on biopsy, and computed tomography (CT) showed multiple pulmonary metastases. The patient was diagnosed with Stage Ⅳ thoracic esophageal carcinoma, and was started on combined chemotherapy with 5-FU plus CDDP. Seven days after the start of chemotherapy, the patient developed mild intermittent pain. By day 18, the blood tests showed a marked inflammatory response, and a CT scan showed an abscess in the small bowel mesentery. We suspected an intra-abdominal abscess caused by small bowel perforation, and performed a partial resection of the small bowel and abscess drainage. Postoperatively, pathology tests revealed a diagnosis of a small intestinal diverticulum, which had penetrated the mesentery. We report our experience of a rare case of penetrating diverticulum of the small intestine that occurred during chemotherapy for esophageal cancer, and review the literature. PMID:26805222

  6. Laparoscopic surgery for small-bowel obstruction caused by Meckel’s diverticulum

    PubMed Central

    Matsumoto, Takatsugu; Nagai, Motoki; Koike, Daisuke; Nomura, Yukihiro; Tanaka, Nobutaka

    2016-01-01

    A 26-year-old woman was referred to our hospital because of abdominal distention and vomiting. Contrast-enhanced computed tomography showed a blind loop of the bowel extending to near the uterus and a fibrotic band connecting the mesentery to the top of the bowel, suggestive of Meckel’s diverticulum (MD) and a mesodiverticular band (MDB). After intestinal decompression, elective laparoscopic surgery was carried out. Using three 5-mm ports, MD was dissected from the surrounding adhesion and MDB was divided intracorporeally. And subsequent Meckel’s diverticulectomy was performed. The presence of heterotopic gastric mucosa was confirmed histologically. The patient had an uneventful postoperative course and was discharged 5 d after the operation. She has remained healthy and symptom-free during 4 years of follow-up. This was considered to be an unusual case of preoperatively diagnosed and laparoscopically treated small-bowel obstruction due to MD in a young adult woman. PMID:26981191

  7. Successful treatment of active haemorrhage from a duodenal diverticulum using surgicel (absorbable haemostat): a case report.

    PubMed

    Muguti, Gi; Gandhi, H; Ridgeway, D

    2007-01-01

    Haemorrhage is one of the rare but serious complications of duodenal diverticula. Current methods of treatment include: endoscopy with injection therapy or hemoclip application and diverticulectomy. In this paper we present the case of a 61 year old man with life threatening haemorrhage who was managed successfully with gentle packing of a bleeding duodenal diverticulum using SURGICEL (Absorbable Haemostat). This appears to be a simple and effective way of dealing with the problem especially in situations where other methods are ineffective or inapplicable. Early surgical intervention before the development of any coagulopathy increases the chances of a successful outcome. It has not been possible to find a similar report from a thorough literature search. PMID:20353131

  8. Flexible endoscopic cricopharyngeal myotomy - The gold standard for the management of Zenker's diverticulum.

    PubMed

    Juzgado Lucas, Diego

    2016-06-01

    The prevalence of Zenker's diverticulum (ZD) is difficult to estimate. If we focus on some published data, it may be as low as 2 new cases per 100,000 inhabitants per year in the United Kingdom, which is in contrast the with feeling in some endoscopy units, that this condition's prevalence is increasing year after year. Prevalence likely remains the same as ever, but the addition of factors such as population ageing, optimal diagnostic care, availability of effective endoscopic management, increased awareness, and cumulative experience in some endoscopy teams, may well have increasingly brought this condition to our attention in our daily practice. This is reflected by an unbelievable 18 ZDs over the last 18 months, as discussed in the manuscript by Dr. de la Morena, reported in this issue of The Spanish Journal of Digestive Diseases (Revista Española de Enfermedades Digestivas. PMID:27282273

  9. Feasibility and usefulness of using swallow contrast-enhanced ultrasound to diagnose Zenker's diverticulum: preliminary results.

    PubMed

    Cui, Xin-Wu; Ignee, Andre; Baum, Ulrich; Dietrich, Christoph F

    2015-04-01

    Zenker's diverticulum (ZD) may be misdiagnosed on conventional ultrasound as a thyroid nodule or other lesion. A barium esophagram is usually used to confirm the diagnosis; however, this procedure exposes the patient to radiation. The aim of this study was to evaluate the feasibility of using swallow contrast-enhanced ultrasound (swallow-CEUS) to diagnose ZD. Ten consecutive patients with ZD (7 men and 3 women, aged 67 ± 11 y) were included in the study. In 4 patients, ZD was incidentally found on head and neck ultrasound, and in 6 patients, ZD was suspected because of dysphagia. All lesions could be detected on conventional ultrasound before swallow-CEUS. Ten healthy volunteers (8 men and 2 women, aged 60 ± 12 y) were chosen as a control group. Written informed consent was obtained. With the patient in the sitting or upright position, conventional ultrasound was performed first to image the lesion, then the patient was asked to swallow ultrasound contrast agent (UCA) (2-4 drops of SonoVue diluted with about 200 mL of tap water). Transity of the contrast agent in the esophagus was imaged with CEUS. Retention of the UCA in the diverticulum was monitored for at least 3 min. All patients underwent a barium esophagram as the gold standard. Swallow-CEUS revealed that in all patients (100%), the UCA was transported from the pharynx to the esophagus while the patient swallowed. ZD appeared as a pouch-shaped structure at the posterior pharyngo-esophageal junction that retained UCA longer than 3 min. The barium esophagram confirmed the diagnosis of ZD in all patients. For the 10 volunteers, no abnormal structure (retaining UCA) was detected during or after swallowing of UCA. With the advantages of no radiation and bedside availability, swallow-CEUS may become a method of choice in confirmation of the diagnosis of ZD, especially when ZD is suspected on conventional ultrasound. PMID:25701519

  10. Giant anterior urethral diverticulum with a calculus masquerading as left inguinal hernia: A missed diagnosis, a lesson to learn

    PubMed Central

    Kushwaha, Renu; Goel, Prabudh; Kureel, Shiv Narain

    2013-01-01

    Congenital anterior urethral diverticulum is an infrequent but important cause of infravesical obstructive uropathy in children. Clinical spectrum usually includes obstructive or irritative urinary symptoms or penile ballooning during the act of micturition. We share our experience in a case of giant anterior urethral diverticulum with a contained calculus presenting as a huge inguino-scrotal swelling and masquerading as left inguinal hernia. The fluctuation in the size of the swelling related to the act of micturition was mistaken for cough impulse. He was subjected to a left inguinal herniotomy, following which he developed urine leak from the surgery wound and was subsequently referred to our centre for further management. The importance of a detailed history, meticulous physical examination, and diagnostic imaging has been stressed. The surgical approach in such cases has also been highlighted. PMID:24019642

  11. ASSESSMENT OF MECHANICAL AND MANUAL SUTURE IN THE SURGICAL TREATMENT OF THE PHARYNGOESOPHAGEAL DIVERTICULUM

    PubMed Central

    de AQUINO, José Luis Braga; CHAGAS, José Francisco Salles; SAID, Marcelo Manzano; PASCOAL, Maria Beatriz Nogueira; BRANDI-FILHO, Luis Antonio; PEREIRA, Douglas Alexandre Rizzanti; FRUET, Fernanda

    2015-01-01

    Background: The occurrence of the pharyngoesophageal, or Zenker diverticulum is not frequent in the national scenario, and the technique of the diverticulectomy with cricomyotomy in medium and great dimension diverticula is still the most indicated. Because the resection of the diverticulum requires the suture of the pharynx, dehiscence can occur, thereafter delaying swallowing. Hence, the idea is to accomplish this surgical procedure, comparing the manual and mechanical suture, in order to evaluate the real benefit of the mechanical technique. Aim: To evaluate the results of the pharyngoesophageal diverticulectomy with cricomyotomy using manual and mechanical suture with regard to local and systemic complications. Method: Fifty-seven patients with pharyngoesophageal diverticula diagnosed through high digestive endoscopy and pharyngeal esophagogram were studied. The applied surgical technique was diverticulectomy with myotomy of the cricopharyngeal muscle, done in 24 patients (42.2%) the mechanical suture (group A) with the mechanical linear suture device and in 33 (57.8%) a manual closure of the pharynx (group B). Results: In the postoperative period, one patient of group A (4.1%) presented fistula caused by dehiscence of the pharyngeal suture, and three of group B (15.1%) presented the same complication, with a good outcome using a conservative treatment. In the same group, three patients (9.0%) presented stenosis of the suture of the pharynx, with good outcome and with endoscopic dilatations, and no patient from group A presented such complication. Lung infection was present in five patients, being two (8.3%) of group A and three (9.0%) on B, having good outcomes after specific treatment. In the late review, done with 43 patients (94.4%) of group A and 22 (88.0%) on B, the patients declared to be pleased with the surgical procedure, because they were able to regain normal swallowing. Conclusion: The diverticulectomy with myotomy and pharyngeal closure using

  12. Endoscopic stapling of Zenker's diverticulum: establishing national baselines for auditing clinical outcomes in the United Kingdom.

    PubMed

    Leong, Samuel C; Wilkie, Mark D; Webb, Christopher J

    2012-08-01

    Endoscopic stapling of Zenker's diverticulum (ZD) is now established practice in the UK and is routinely performed by the vast majority of otolaryngologists. Both The National Confidential Enquiry into Peri-Operative Deaths and the National Institute for Health and Clinical Excellence recommended that the procedure be undertaken at specialist centres and that each department should audit their respective outcomes. Despite the abundance of review articles, it remains unclear what variables a meaningful audit is required to collate and what gold standards every department in the UK undertaking surgery for ZD should aspire to achieve. The objective was to review the outcomes of endoscopic stapling of Zenker's diverticulum at this institution. In addition, a review of other UK departments was undertaken to formulate minimum clinical standards and recommendations of best practice. Review of patient case notes and a structured search of PubMed were used as materials. Fifteen retrospective case series were identified from the literature search which fulfilled the inclusion criteria. Fifty-one patients were identified from the present audit. When these were added to the review, a total of 585 patients were available for meta-analysis. 540 (92.3%) were successfully stapled. Forty-five (7.7%) procedures were abandoned intra-operatively. The most common reason was difficulty assessing the small pouch. The majority of patients (92%) had resumed oral intake by the second post-operative day. Most patients (87%) were discharged by the second post-operative day. Outcomes were good with over 90% reporting resolved or significantly improved symptoms. Minor complications included dental trauma, transient hoarseness and sore throat causing delayed resumption of oral intake. The overall perforation rate was 4.8%. One death was reported. In conclusion endoscopic stapling of pharyngeal pouch is a safe procedure that is associated with good outcomes and low complication rates. No death

  13. A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China

    PubMed Central

    Zhang, Manli; Cheng, Jing; Liu, Aijun; Wang, Longxia; Xiong, Lihua; Chen, Meixia; Sun, Yi; Li, Jianzhong; Lu, Yu; Yuan, Huijun; Li, Yali; Lu, Yanping

    2015-01-01

    Meckel-Gruber syndrome (MKS) is a lethal autosomal recessive condition characterized by renal cysts and variably associated features, including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Genetic heterogeneity has been demonstrated at eleven loci, MKS1-11. Here, we present the clinical and molecular characteristics of a Chinese MKS3 family with occipital encephalocele and kidney enlargement. DNA sequencing of affected fetuses revealed a homozygous c.1645C>T substitution in exon 16 of TMEM67, leading to a p.R549C substitution in meckelin. The R549 residue is highly conserved across human, rat, mouse, zebrafish, chicken, wolf and platypus genomes. Hha I restriction analysis demonstrated that the c.1645C>T mutation was absent in 200 unrelated control chromosomes of Chinese background, supporting the hypothesis that it represents causative mutation, not rare polymorphism. Our data provide additional molecular and clinical information for establishing a better genotype-phenotype understanding of MKS. PMID:26191240

  14. A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China.

    PubMed

    Zhang, Manli; Cheng, Jing; Liu, Aijun; Wang, Longxia; Xiong, Lihua; Chen, Meixia; Sun, Yi; Li, Jianzhong; Lu, Yu; Yuan, Huijun; Li, Yali; Lu, Yanping

    2015-01-01

    Meckel-Gruber syndrome (MKS) is a lethal autosomal recessive condition characterized by renal cysts and variably associated features, including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Genetic heterogeneity has been demonstrated at eleven loci, MKS1-11. Here, we present the clinical and molecular characteristics of a Chinese MKS3 family with occipital encephalocele and kidney enlargement. DNA sequencing of affected fetuses revealed a homozygous c.1645C>T substitution in exon 16 of TMEM67, leading to a p.R549C substitution in meckelin. The R549 residue is highly conserved across human, rat, mouse, zebrafish, chicken, wolf and platypus genomes. Hha I restriction analysis demonstrated that the c.1645C>T mutation was absent in 200 unrelated control chromosomes of Chinese background, supporting the hypothesis that it represents causative mutation, not rare polymorphism. Our data provide additional molecular and clinical information for establishing a better genotype-phenotype understanding of MKS. PMID:26191240

  15. CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

    PubMed Central

    Mougou-Zerelli, Soumaya; Thomas, Sophie; Szenker, Emmanuelle; Audollent, Sophie; Elkhartoufi, Nadia; Babarit, Candice; Romano, Stéphane; Salomon, Rémi; Amiel, Jeanne; Esculpavit, Chantal; Gonzales, Marie; Escudier, Estelle; Leheup, Bruno; Loget, Philippe; Odent, Sylvie; Roume, Joëlle; Gérard, Marion; Delezoide, Anne-Lise; Khung, Suonavy; Patrier, Sophie; Cordier, Marie-Pierre; Bouvier, Raymonde; Martinovic, Jéléna; Gubler, Marie-Claire; Boddaert, Nathalie; Munnich, Arnold; Encha-Razavi, Férechté; Valente, Enza Maria; Saad, Ali; Saunier, Sophie; Vekemans, Michel; Attié-Bitach, Tania

    2009-01-01

    The Meckel syndrome (MKS) is a lethal fetal disorder characterized by diffuse renal cystic dysplasia, polydactyly, a brain malformation that is usually occipital encephalocele and/or vermian agenesis, with intrahepatic biliary duct proliferation. Joubert syndrome (JBS) is a viable neurological disorder with a characteristic “molar tooth sign” (MTS) on axial images reflecting cerebellar vermian hypoplasia/dysplasia. Both conditions are classified as ciliopathies with an autosomal recessive mode of inheritance. Allelism of MS and JBS has been reported for TMEM67/MKS3, CEP290/MKS4, and RPGRIP1L/MKS5. Recently, one homozygous splice mutation with a founder effect was reported in the CC2D2A gene in Finnish fetuses with MKS, defining the 6th locus for MKS. Shortly thereafter, CC2D2A mutations were reported in JBS also. The analysis of the CC2D2A gene in our series of MKS fetuses, identified 14 novel truncating mutations in 11 cases. These results confirm the involvement of CC2D2A in MKS and reveal a major contribution of CC2D2A to the disease. We also identified three missense CC2D2A mutations in two JBS cases. Therefore and in accordance with the data reported regarding RPGRIP1L, our results indicate phenotype-genotype correlations, as missense and presumably hypomorphic mutations lead to JBS while all null alleles lead to MKS. PMID:19777577

  16. Tracheal Diverticulum Following Paratracheal Hypofractionated Radiotherapy in the Setting of Prior and Subsequent Bevacizumab

    PubMed Central

    Chaudhuri, Aadel A; Chen, Jie Jane; Carter, Justin N; Binkley, Michael S; Kumar, Kiran A; Dudley, Sara A; Sung, Arthur W

    2016-01-01

    We present the case of a 63-year-old woman with limited metastatic colorectal cancer to the lungs and liver treated with FOLFIRI-bevacizumab, followed by consolidative hypofractionated radiotherapy to right paratracheal metastatic lymphadenopathy. We treated the right paratracheal site with 60 Gy in 15 fractions (70 Gy equivalent dose in 2 Gy fractions). The patient tolerated the treatment well, and six months later started a five-month course of FOLFIRI-bevacizumab for new metastatic disease. She presented to our clinic six months after completing this, complaining of productive cough with scant hemoptysis, and was found to have localized tracheal wall breakdown and diverticulum in the region of prior high-dose radiation therapy, threatening to progress to catastrophic tracheovascular fistula. This was successfully repaired surgically after a lack of response to conservative measures. We urge caution in treating patients with vascular endothelial growth factor (VEGF) inhibitors in the setting of hypofractionated radiotherapy involving the mucosa of tubular organs, even when these treatments are separated by months. Though data is limited as to the impact of sequence, this may be particularly an issue when VEGF inhibitors follow prior radiotherapy. PMID:27226939

  17. Surgical treatment of pulsatile tinnitus caused by the sigmoid sinus diverticulum: a preliminary study.

    PubMed

    Wang, Guo-Peng; Zeng, Rong; Ma, Xiao-Bo; Liu, Zhao-Hui; Wang, Zhen-Chang; Gong, Shu-Sheng

    2015-05-01

    The sigmoid sinus diverticulum (SSD) is an increasingly recognized cause of pulsatile tinnitus (PT). Surgical reconstruction of the sigmoid sinus wall has been found to be highly effective for SSD; however, surgical techniques still need to be refined to reduce the incidence of serious postoperative complications. Moreover, scrutinizing more cases of SSD is desirable for establishing the diagnostic criteria and standardizing the surgical technique. This study was retrospectively undertaken in 28 patients who were diagnosed with SSD upon computed tomography angiography (CTA) and digital subtraction angiography findings at Beijing Tongren Hospital in China. A majority of patients (20/28) presented with SSD and accompanying sigmoid sinus wall dehiscence (SSWD). Twenty-five patients opted to undergo sigmoid sinus wall reconstruction, and 3 patients refused surgery. Following surgery, 17 patients experienced complete resolution of PT, 3 patients experienced partial resolution, and 5 patients experienced no change in PT. No serious complications were found postoperatively. A comparative analysis of the preoperative and postoperative CTA findings suggested that completely resolving SSD and the accompanying SSWD resulted in the elimination of PT. In conclusion, SSD is generally accompanied by SSWD. Sigmoid sinus wall reconstruction is a safe and effective approach for the treatment of SSD. During surgery, completely resolving both SSD and SSWD is advisable, and maintaining the normal diameter of the sigmoid sinus is imperative. PMID:26020395

  18. Unusual presentation of a Meckel’s diverticulum: A case report

    PubMed Central

    Tenreiro, Nádia; Moreira, Herculano; Silva, Silvia; Madureira, Luis; Gaspar, João; Oliveira, António

    2015-01-01

    Introduction Meckel’s diverticulum (MD) is the most common congenital malformation of the gastrointestinal tract. Intestinal obstruction is the lead presenting symptom in the adult population due to multiple causes (intussusception, incarceration, adhesions, strictures and torsion). Our patient had a complicated MD with an unique combination of risk factors and findings. Presentation of case We report an unusual case of an 18-year-old patient presenting with acute small bowel obstruction for several days, who developed focal peritoneal signs on right lower quadrant. On laparotomy, findings included a necrotic giant MD and a small bowel volvulus around a fibrous band that attached MD to the umbilicus. Segmental enterectomy with primary anastomosis was performed. Discussion Axial torsion and gangrene of MD is the rarest complication. Its pre-operative diagnosis remains elusive as it can be clinically indistinguishable from other intra-abdominal inflammatory conditions. The correct diagnosis of complicated MD before surgery is often difficult because this condition can mimic other acute abdominal pathologies. There are several risk factors that can point to an accurate and early diagnosis, especially when combined with the appropriate imaging techniques, such as computed tomography with oral and intravenous contrast. Conclusion This complication remains underdiagnosed, often with delayed surgical intervention and sub-optimal treatment that leads to significant morbidity and mortality. PMID:26413922

  19. Endoscopic versus surgical approach in the treatment of Zenker’s diverticulum: systematic review and meta-analysis

    PubMed Central

    Albers, Débora V.; Kondo, André; Bernardo, Wanderley M.; Sakai, Paulo; Moura, Renata Nobre; Silva, Gustavo Luis Rodela; Ide, Edson; Tomishige, Toshiro; de Moura, Eduardo G. H.

    2016-01-01

    Background: Zenker’s diverticulum is a rare disease in the general population. Its treatment can be carried out by either an endoscopic or surgical approach. The objective of this study was to systematically identify all reports that compare both treatment modalities and to assess the outcomes in terms of length of procedure, length of hospitalization, time until diet introduction, complication rates, and recurrence rates. Methods: A search of Medline and Embase selected all studies that compared different methods of surgical and endoscopic treatment for Zenker’s diverticulum published in the English, Portuguese, and Spanish languages between 1975 and 2014. The meta-analysis was developed in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) statement. Data were extracted and analyzed for five different outcomes. Results: Eleven studies met the inclusion criteria, describing outcomes of endoscopic versus surgical treatment for 596 patients with Zenker’s diverticulum. A meta-analysis of the studies suggested a statistically significant reduction in operating time and length of hospitalization, favoring endoscopic treatment (standardized mean difference (SMD) – 78.06, 95 %CI – 90.63, – 65.48 and SMD – 3.72, 95 %CI – 4.49, – 2.95, respectively), just as with the reduction in the fasting period (SMD – 4.30, 95 %CI – 5.18, – 3.42) and risk of complications (SMD – 0.09, 95 %CI 0.03, 0.43) for patients who had undergone the endoscopic approach in comparison with the surgical group. Also, a statistically significant reduction in the risk of symptom recurrence was seen when the treatment of Zenker’s diverticulum was carried out by a surgical approach compared with endoscopic treatment (SMD 0.08, 95 %CI 0.03, 0.13). Conclusion: Compared with a surgical approach, endoscopic treatment appeared to result in a shorter length of procedure and

  20. Robot-Assisted Laparoscopic Bladder Diverticulectomy and Ureteral Re-Implantation for a Diverticulum Containing High Grade Transitional Cell Carcinoma

    PubMed Central

    Elands, Sophie; Vasdev, Nikhil; Tay, Andrea; Adshead, James M.

    2015-01-01

    We present a case of an 84-year-old man presenting with painless visible hematuria. Further investigation revealed a primary G3pT1 transitional cell carcinoma confined to a bladder diverticulum. In view of bladder-sparing therapy, he underwent a robot-assisted laparoscopic bladder diverticulectomy with ureteral re-implantation. This report demonstrates a minimally invasive approach offering radical treatment without having to recur to partial or radical cystectomy. We discuss the operative steps, the significance of this case with a review of the literature, and the future potential this may represent for the treatment of tumor-containing bladder diverticula. PMID:26889127

  1. Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.

    PubMed

    Barisic, Ingeborg; Boban, Ljubica; Loane, Maria; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; Addor, Marie-Claude; Bergman, Jorieke Eh; Braz, Paula; Draper, Elizabeth S; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Pierini, Anna; Queisser-Luft, Annette; Rankin, Judith; Rissmann, Anke; Verellen-Dumoulin, Christine

    2015-06-01

    Meckel-Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. The study population consisted of 191 cases of MKS identified between January 1990 and December 2011 in 34 European registries. The mean prevalence was 2.6 per 100,000 births in a subset of registries with good ascertainment. The prevalence was stable over time, but regional differences were observed. There were 145 (75.9%) terminations of pregnancy after prenatal diagnosis, 13 (6.8%) fetal deaths, 33 (17.3%) live births. In addition to cystic kidneys (97.7%), encephalocele (83.8%) and polydactyly (87.3%), frequent features include other central nervous system anomalies (51.4%), fibrotic/cystic changes of the liver (65.5% of cases with post mortem examination) and orofacial clefts (31.8%). Various other anomalies were present in 64 (37%) patients. As nowadays most patients are detected very early in pregnancy when liver or kidney changes may not yet be developed or may be difficult to assess, none of the anomalies should be considered obligatory for the diagnosis. Most cases (90.2%) are diagnosed prenatally at 14.3 ± 2.6 (range 11-36) gestational weeks and pregnancies are mainly terminated, reducing the number of LB to one-fifth of the total prevalence rate. Early diagnosis is important for timely counseling of affected couples regarding the option of pregnancy termination and prenatal genetic testing in future pregnancies. PMID:25182137

  2. Complications du diverticule de Meckel (DM) chez l'adulte: à propos de 11 cas au CHU-Yalgado Ouédraogo au Burkina Faso

    PubMed Central

    Ouangré, Edgar; Zida, Maurice; Bazongo, Moussa; Sanou, Adama; Bonkoungou, Gilbert Patindé; Doamba, Rodrigue Namékinsba; Sawadogo, Elie Yamba; Ouédraogo, Sidziguin; Zongo, Nayi; Traore, Si Simon

    2015-01-01

    Le diverticule de Meckel (DM) est la persistance partielle du canal omphalomésentérique. Ses complications sont rares. Le diagnostic est le plus souvent per opératoire. L'objectif a été de décrire les complications du diverticule de Meckel chez l'adulte dans le service de chirurgie générale et digestive du CHU Yalgado Ouédraogo. Il s'est agi d'une étude transversale descriptive sur 10 ans (janvier 2004-décembre 2013) portant sur les dossiers des patients âgés de plus de 15 ans ayant présenté un DM compliqué. Durant la période d’étude, 11 cas ont été colligés. L'incidence annuelle a été de 11 cas. Nous avons noté une prédominance masculine avec un sex-ratio de 4,5. L’âge moyen des patients était de 29,8 ans. Le diagnostic préopératoire a été dans huit cas une occlusion intestinale aiguë, une appendicite aiguë dans deux cas, une péritonite aiguë généralisée dans un cas. Il a été diagnostiqué en peropératoire une occlusion intestinale dans neuf cas; une diverticulite dans un cas et un cas de perforation du DM. Tous les DM avaient été réséqués dont huit résections segmentaires iléales emportant le DM et trois résections cunéiformes. Tous les DM étaient situés à moins d'un mètre de la jonction iléo-caecale. L'histologie réalisée dans deux cas avait conclu à une diverticulite. Les suites opératoires ont été simples dans neuf cas, compliquées dans deux cas dont une éventration et un décès. Les complications du diverticule de Meckel sont rares. Le diagnostic préopératoire est difficile. Le traitement est essentiellement chirurgical. PMID:26958137

  3. Forced diuresis 18F-fluorodeoxyglucose positron emission tomography/contrast enhanced in detection of carcinoma of urinary bladder diverticulum

    PubMed Central

    Soundararajan, Ramya; Singh, Harmandeep; Arora, Saurabh; Nayak, Brusabhanu; Shamim, Shamim Ahmed; Bal, Chandrasekhar; Kumar, Rakesh

    2015-01-01

    Urinary bladder diverticular carcinomas are uncommon with a lesser incidence of 0.8–10% and its diagnosis still remains a challenge. Cystoscopy is the most reliable method, but evaluating diverticulum with narrow orifices is difficult. Before the initiation of appropriate treatment, proper detection of bladder diverticular carcinoma and its locoregional and distant sites of involvement is necessary. Here, we present a case of 48-year-old male with urinary bladder diverticular carcinoma detected by forced diuretic 18F-fluorodeoxyglucose positron emission tomography/computerized tomography (18F-FDG PET/CT). This case also highlights the significance of forced diuretic 18F-FDG PET/CT in the detection, staging, and response evaluation of bladder diverticular carcinoma. PMID:25589819

  4. Potential Role of Tc-99m DTPA Diuretic Renal Scan in the Diagnosis of Calyceal Diverticulum in Children

    PubMed Central

    Lin, Chun-Chen; Shih, Bing-Fu; Shih, Shin-Lin; Tsai, Jeng-Daw

    2015-01-01

    Abstract The aim of the study was to assess the usefulness of Technetium-99m diethylene triamine pentaacetic acid (Tc-99m DTPA) diuretic scan to diagnose calyceal diverticulum (CD). From January 2000 to June 2014, children with evidence of renal cystic lesions of undetermined diagnosis on ultrasound were enrolled. Computed tomography urography (CTU) and Tc-99m DTPA diuretic scan were performed to characterize the precise anatomy. The diagnosis of CD depended on visualization of a renal cystic lesion with filling of contrast material or radiotracer from the collecting system on CTU or diuretic renal scan. Children who had positive findings of CD on 1 or both imaging studies were selected and analyzed. Both CTU and Tc-99m DTPA diuretic renal scan were performed in 39 children. A total of 9 (23.1 %) children with CD were diagnosed. All 9 children had positive diagnosis of CD on diuretic renal scan. Only 6 (66.7%) children could be diagnosed by CTU, and CD was missed by CTU in 3 subjects. The differential renal functions in patients with CD were 46% to 55%. The time of radiotracer appearance in the CD ranged from the 8th to the 24th minute. Seven patients had persistent accumulation of radiotracer in their CD at the end of the study. Tc-99m DTPA diuretic renal scan seems to be more sensitive than CTU in diagnosing CD. The possible reasons of higher sensitivity are discussed. Additional advantages that Tc-99m DTPA diuretic renal scan provides include the following: continuous monitoring, less radiation doses, and information on renal function, making it an attractive alternative to CTU for diagnosis of CD.

  5. The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway

    PubMed Central

    Abdelhamed, Zakia A.; Natarajan, Subaashini; Wheway, Gabrielle; Inglehearn, Christopher F.; Toomes, Carmel; Johnson, Colin A.; Jagger, Daniel J.

    2015-01-01

    ABSTRACT Ciliopathies are a group of developmental disorders that manifest with multi-organ anomalies. Mutations in TMEM67 (MKS3) cause a range of human ciliopathies, including Meckel-Gruber and Joubert syndromes. In this study we describe multi-organ developmental abnormalities in the Tmem67tm1Dgen/H1 knockout mouse that closely resemble those seen in Wnt5a and Ror2 knockout mice. These include pulmonary hypoplasia, ventricular septal defects, shortening of the body longitudinal axis, limb abnormalities, and cochlear hair cell stereociliary bundle orientation and basal body/kinocilium positioning defects. The basal body/kinocilium complex was often uncoupled from the hair bundle, suggesting aberrant basal body migration, although planar cell polarity and apical planar asymmetry in the organ of Corti were normal. TMEM67 (meckelin) is essential for phosphorylation of the non-canonical Wnt receptor ROR2 (receptor-tyrosine-kinase-like orphan receptor 2) upon stimulation with Wnt5a-conditioned medium. ROR2 also colocalises and interacts with TMEM67 at the ciliary transition zone. Additionally, the extracellular N-terminal domain of TMEM67 preferentially binds to Wnt5a in an in vitro binding assay. Cultured lungs of Tmem67 mutant mice failed to respond to stimulation of epithelial branching morphogenesis by Wnt5a. Wnt5a also inhibited both the Shh and canonical Wnt/β-catenin signalling pathways in wild-type embryonic lung. Pulmonary hypoplasia phenotypes, including loss of correct epithelial branching morphogenesis and cell polarity, were rescued by stimulating the non-canonical Wnt pathway downstream of the Wnt5a-TMEM67-ROR2 axis by activating RhoA. We propose that TMEM67 is a receptor that has a main role in non-canonical Wnt signalling, mediated by Wnt5a and ROR2, and normally represses Shh signalling. Downstream therapeutic targeting of the Wnt5a-TMEM67-ROR2 axis might, therefore, reduce or prevent pulmonary hypoplasia in ciliopathies and other congenital

  6. A duodenal gastrointestinal stromal tumor with a large central area of fluid and gas due to fistulization into the duodenal lumen, mimicking a large duodenal diverticulum.

    PubMed

    Okasha, Hussein Hassan; Amin, Hoda Mahmoud; Al-Shazli, Mostafa; Nabil, Ahmed; Hussein, Hossam; Ezzat, Reem

    2015-01-01

    Gastrointestinal stromal tumors (GISTs) can occur anywhere along the gastrointestinal tract especially the stomach and upper small bowel. They are usually solid, but cystic degeneration, necrosis, and focal hemorrhage have been described in larger tumors leading to central necrotic cavitation. The most sensitive marker of GIST is CD117 (c-kit). In computed tomography (CT) scan, it is often difficult to decide the origin of the primary tumor, especially in large GISTs. We report an incidental case of a large duodenal GIST fistulizing into the second part of the duodenum with a large amount of fluid and gas inside, mistaken for a cystic pancreatic neoplasm by CT and mistaken for a duodenal diverticulum by endoscopic ultrasound. PMID:26374586

  7. Genetics Home Reference: Meckel syndrome

    MedlinePlus

    ... including a group of birth defects known as neural tube defects. These defects occur when a structure called the ... Brain Malformations Health Topic: Kidney Cysts Health Topic: Neural Tube Defects Genetic and Rare Diseases Information Center (1 link) ...

  8. Endovascular Repair of a Right-Sided Descending Thoracic Aortic Aneurysm Associated with a Right Aortic Arch and a Left Subclavian Artery Arising from a Kommerell's Diverticulum

    SciTech Connect

    Klonaris, Chris Avgerinos, Efthimios D.; Katsargyris, Athanasios; Matthaiou, Alexandros; Georgopoulos, Sotirios; Psarros, Vasileios; Bastounis, Elias

    2009-07-15

    This case report describes the endovascular repair of a right-sided descending thoracic aortic aneurysm associated with a right aortic arch and an aberrant left subclavian artery. A 76-year-old male with multiple comorbidities was incidentally found to have a right-sided descending thoracic aortic aneurysm with a maximum diameter of 6.2 cm. Additionally, there was a right aortic arch with a retroesophageal segment and separate arch branches arising in the following order: left common carotid artery, right common carotid artery, right subclavian artery, and left subclavian artery that was aberrant, arising from a Kommerrell's diverticulum. The aneurysm was successfully excluded by deployment of a Zenith TX1 36 x 32 x 20-mm stent-graft using wire traction technique via the left femoral and right brachial arteries in order to deal with two severe aortic angulations. At 18-month follow-up the patient was doing well, with aneurysm sac shrinkage to 5.9 cm and no signs of endoleak or migration. Endovascular repair of right-sided descending thoracic aortic aneurysms with a right arch and aberrant left subclavian artery is feasible, safe, and effective. In such rare configurations, which demand considerably increased technical dexterity and center experience, endovascular repair emerges as an attractive therapeutic option.

  9. Long-term symptomatic control of Zenker diverticulum by flexible endoscopic mucomyotomy with the hook knife and predisposing factors for clinical recurrence.

    PubMed

    Brueckner, Juliane; Schneider, Annette; Messmann, Helmut; Gölder, Stefan Karl

    2016-06-01

    Objective Flexible endoscopic treatment for Zenker diverticulum (ZD) is well established. Although recurrence of symptoms is relatively frequent, it has hardly been studied. In the present study, we analyse the long-term development of ZD patients' symptoms after successful endoscopic mucomyotomy, as well as interventional safety, sustainability of success, and predisposing factors for clinical recurrence. Methods Forty-six consecutive patients (54% male, mean age 67 years) with symptomatic ZD were treated using a hook knife and soft diverticuloscope. Follow-up interviews at 1 and 6 months inquired about a broad pool of symptoms and the dysphagia score. For further analysis, patients were retrospectively stratified into a 'recurrence' and 'no recurrence' group. Results After 100% initial success, 30% of patients reported recurrence of symptoms after 4.4 months (range 1-40) and were re-treated (mean 1.39 sessions/patient). Though the 'recurrence' group showed a higher dysphagia score and frequency past intervention, endoscopic re-treatment achieved equally good results as in the 'no recurrence' group. Before treatment, 'recurrence' patients had more severe symptoms, such as vomiting (frequency score 2.13 vs. 0.92; p < 0.05), ZD-related insomnia (1.65 vs. 1.08, n.s.), and a higher dysphagia score (2.25 vs. 1.59, n.s.). Also, the 'recurrence' group had larger diverticula, more men, slightly younger age and a longer duration of symptoms. Conclusions Endoscopic treatment of ZD with hook knife and soft diverticuloscope is safe and effective. Despite considerable clinical recurrence, re-treatment achieved a long-lasting freedom of symptoms. Male patients with a high dysphagia score and severe symptoms were more likely to experience recurrence. PMID:26807604

  10. Common uses of nonradioactive drugs in nuclear medicine

    SciTech Connect

    Ponto, J.A.; Hladik, W.B.

    1984-06-01

    A variety of nonradioactive pharmaceuticals commonly used in patients who receive nuclear medicine diagnostic tests are described. Nonradioactive drugs used in thyroid, brain, hepatobiliary, cardiac, renal, Meckel's diverticulum, gallium, adrenal, and hematological studies are described. Pharmaceutical necessities used as disinfectants, diluents, and anticoagulants are also described. Hospital pharmacists should be familiar with the uses of commonly prescribed nonradioactive drugs in nuclear medicine studies.

  11. Gallstone Obstructive Ileus 3 Years Post-cholecystectomy to a Patient with an Old Ileoileal Anastomosis

    PubMed Central

    Potsi, S; Paramythiotis, D; Michalopoulos, A; Papadopoulos, VN; Douros, V; Pantoleon, A; Foutzila-Kalogera, A; Ekonomou, I; Harlaftis, N

    2009-01-01

    The present case is one of gallstone obstructive ileus due to gallstones 3 yr after laparoscopic cholecystectomy. It is interesting because of the sex of the patient, the fact that ileus occurred 3 yr after cholecystectomy and that the localization of the obstruction was an old side-to-side ileoileal anastomosis due to a diverticulectomy following intussusception of Meckels' diverticulum at the age of 3. PMID:19949687

  12. Sonography of Abdominal Pain in Children: Appendicitis and Its Common Mimics.

    PubMed

    Sanchez, Thomas Ray; Corwin, Michael T; Davoodian, Andrew; Stein-Wexler, Rebecca

    2016-03-01

    Abdominal pain is very common in the pediatric population (<18 years of age). Sonography is a safe modality that can often differentiate the frequently encountered causes of abdominal pain in children. This pictorial essay will discuss the sonographic findings of acute appendicitis, including the imaging appearance of a perforated appendicitis. It will also present the sonographic features of the relatively common mimics of appendicitis, such as mesenteric adenitis/gastroenteritis, intussusception, Meckel diverticulum, and ovarian torsion. PMID:26892821

  13. Petrous apex arachnoid cyst extending into Meckel's cave.

    PubMed

    Batra, Arun; Tripathi, Rajendra Prasad; Singh, Anil Kumar; Tatke, Medha

    2002-09-01

    A rare case of arachnoid cyst involving the petrous apex with an unusual clinical presentation has been described with special emphasis in the imaging features and importance of accurate presurgical diagnosis. Differentiation from the other benign lesions involving the petrous apex and the role of newer MR techniques in the diagnosis of these lesions has been highlighted. PMID:12196240

  14. Intestinal toxemia botulism in two young people, caused by Clostridium butyricum type E.

    PubMed

    Fenicia, L; Franciosa, G; Pourshaban, M; Aureli, P

    1999-12-01

    Two unconnected cases of type E botulism involving a 19-year-old woman and a 9-year-old child are described. The hospital courses of their illness were similar and included initial acute abdominal pain accompanied by progressive neurological impairment. Both patients were suspected of having appendicitis and underwent laparotomy, during which voluminous Meckel's diverticula were resected. Unusual neurotoxigenic Clostridium butyricum strains that produced botulinum-like toxin type E were isolated from the feces of the patients. These isolates were genotypically and phenotypically identical to other neurotoxigenic C. butyricum strains discovered in Italy in 1985-1986. No cytotoxic activity of the strains that might explain the associated gastrointestinal symptoms was demonstrated. The clinical picture of the illness and the persistence of neurotoxigenic clostridia in the feces of these patients suggested a colonization of the large intestine, with in vivo toxin production. The possibility that Meckel's diverticulum may predispose to intestinal toxemia botulism may warrant further investigation. PMID:10585782

  15. Stenosis of the small intestine after reduction of strangulated Littre hernia in an infant.

    PubMed

    Višnjić, S; Car, A; Kralj, R

    2013-04-01

    Herniation and incarceration of a Meckel's diverticulum in a hernial sac-Littre hernia-is a relatively uncommon surgical emergency. Segmental stenosis of small intestine after hernia reduction and consecutive intestinal obstruction is a similarly rare emergency. The combination of both these disorders is extremely uncommon at any age and especially during infancy. The obvious rarity of the condition, its subtle diagnostic features, the potentially ominous course of events and the age of patient indicate early surgery as a life-saving solution. PMID:21789653

  16. Use of monoclonal antibodies developed against chicken coccidia (Eimeria) to study invasion and development of Eimeria reichenowi in Florida sandhill cranes (Grus canadensis)

    USGS Publications Warehouse

    Augustine, P.C.; Olsen, G.H.; Danforth, H.D.; Gee, G.F.; Novilla, M.

    2001-01-01

    Eimeria gruis and Eimeria reichenowi are common coccidial parasites of a number of species of cranes. Until recently, little was known about either the site for invasion or the dynamics of early development of the crane coccidia because of the difficulty of identifying sporozoites and early developmental stages of these parasites by conventional staining methods. In the present study, monoclonal antibodies (MAbs) elicited against Eimeria spp. of chickens and turkeys were found to cross-react with sporozoites and developmental stages of E. reichenowi in the tissues of Florida sandhill cranes (Grus canadensis). With these Mabs, E. reichenowi sporozoites were found in specimens taken at 6 hr postinoculation (PI) from just proximal to Meckel's diverticulum in the jejunum to the ileocecal juncture. Fewer were found in the ceca and rectum and none in the duodenal loop. At 24 hr PI, there were markedly fewer sporozoites and their location had shifted to the duodenum. No stages were seen in intestinal cells at 5 days PI (DPI), but trophozoites had developed in the liver and spleen. Ar 10 DPI, sexual stages were detected in the intestine from the duodenal loop through Meckel's diverticulum but not in other organs. By 14 DPI, numerous developmental stages were detected in the intestine (ceca and jejunum), liver, and lungs but not in the heart, kidney, or brain. The number, location, and maturity of the stages in the ceca differed markedly from those in the jejunum.

  17. Peritonitis with small bowel perforation caused by a fish bone in a healthy patient.

    PubMed

    Choi, Yonghoon; Kim, Gyuwon; Shim, Chansup; Kim, Dongkeun; Kim, Dongju

    2014-02-14

    Perforation of the gastrointestinal tract by ingested foreign bodies is extremely rare in otherwise healthy patients, accounting for < 1% of cases. Accidentally ingested foreign bodies could cause small bowel perforation through a hernia sac, Meckel's diverticulum, or the appendix, all of which are uncommon. Despite their sharp ends and elongated shape, bowel perforation caused by ingested fish bones is rarely reported, particularly in patients without intestinal disease. We report a case of 57-year-old female who visited the emergency room with periumbilical pain and no history of underlying intestinal disease or intra-abdominal surgery. Abdominal computed tomography and exploratory laparotomy revealed a small bowel micro-perforation with a 2.7-cm fish bone penetrating the jejunal wall. PMID:24587641

  18. Rectal bleeding in a 4-month-old boy

    SciTech Connect

    Dutro, J.A.; Santanello, S.A.; Unger, F.; Goodwin, C.D.

    1986-10-24

    A case of bleeding Meckel's diverticulum is described in an infant. A 4-month-old boy was seen initially with a 24-hour history of painless hematochezia. His parents had noted two episodes of maroon-colored stool that did not appear to be associated with any abdominal distress. His medical history was unremarkable, with normal growth and development. Physical examination revealed a well-nourished, well-hydrated infant in no apparent distress. Vital signs were normal. Rectal examination revealed no masses, but bright-red blood was noted on the examining finger. Findings from the remainder of the examination were normal. An upright roentgenogram of the abdomen was obtained and demonstrated no abnormalities. The abdominal technetium scan was abnormal. An exploratory laparotomy was performed later on the day of admission.

  19. Giant appendicolith: Rare finding in a common ailment.

    PubMed

    Singhal, Sanjeev; Singhal, Anu; Mahajan, Harsh; Prakash, Brahm; Kapur, Sunil; Arora, Pankaj K; Tiwari, Bishwanath; Sethi, Punit

    2016-01-01

    Acute appendicitis is one of the commonest surgical emergencies worldwide. There is considerable variation in prevalence of appendicoliths with appendicitis. Most of the patients with appendicoliths are asymptomatic and they are not pathognomic for acute appendicitis. However, appendicoliths show increased association with perforation and abscess formation. Appendicolith are quite common, being present in 3% of general population and in nearly 10% cases of appendicitis. However, giant appendicoliths measuring over 2 centimeters (cms) are extremely rare. Computed Tomography (CT) has increased their pre-operative diagnosis considerably. Use of spectral analysis can give us the details of composition of the stone pre-operatively. We present a young male diagnosed pre-operatively on Non-Contrast Computed Tomography (NCCT) to have a giant calcium struvite appendicolith. On laparoscopy he had a 3 cm stone and an incidental Meckel's diverticulum and underwent appendectomy. The case is presented for the unique size of the appendicolith alongwith review of literature. PMID:27073312

  20. Giant appendicolith: Rare finding in a common ailment

    PubMed Central

    Singhal, Sanjeev; Singhal, Anu; Mahajan, Harsh; Prakash, Brahm; Kapur, Sunil; Arora, Pankaj K.; Tiwari, Bishwanath; Sethi, Punit

    2016-01-01

    Acute appendicitis is one of the commonest surgical emergencies worldwide. There is considerable variation in prevalence of appendicoliths with appendicitis. Most of the patients with appendicoliths are asymptomatic and they are not pathognomic for acute appendicitis. However, appendicoliths show increased association with perforation and abscess formation. Appendicolith are quite common, being present in 3% of general population and in nearly 10% cases of appendicitis. However, giant appendicoliths measuring over 2 centimeters (cms) are extremely rare. Computed Tomography (CT) has increased their pre-operative diagnosis considerably. Use of spectral analysis can give us the details of composition of the stone pre-operatively. We present a young male diagnosed pre-operatively on Non-Contrast Computed Tomography (NCCT) to have a giant calcium struvite appendicolith. On laparoscopy he had a 3 cm stone and an incidental Meckel's diverticulum and underwent appendectomy. The case is presented for the unique size of the appendicolith alongwith review of literature. PMID:27073312

  1. Meckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndrome.

    PubMed

    Tiwari, Sarika; Hudson, Scott; Gattone, Vincent H; Miller, Caroline; Chernoff, Ellen A G; Belecky-Adams, Teri L

    2013-01-01

    Ciliopathies lead to multiorgan pathologies that include renal cysts, deafness, obesity and retinal degeneration. Retinal photoreceptors have connecting cilia joining the inner and outer segment that are responsible for transport of molecules to develop and maintain the outer segment process. The present study evaluated meckelin (MKS3) expression during outer segment genesis and determined the consequences of mutant meckelin on photoreceptor development and survival in Wistar polycystic kidney disease Wpk/Wpk rat using immunohistochemistry, analysis of cell death and electron microscopy. MKS3 was ubiquitously expressed throughout the retina at postnatal day 10 (P10) and P21. However, in the mature retina, MKS3 expression was restricted to photoreceptors and the retinal ganglion cell layer. At P10, both the wild type and homozygous Wpk mutant retina had all retinal cell types. In contrast, by P21, cells expressing rod- and cone-specific markers were fewer in number and expression of opsins appeared to be abnormally localized to the cell body. Cell death analyses were consistent with the disappearance of photoreceptor-specific markers and showed that the cells were undergoing caspase-dependent cell death. By electron microscopy, P10 photoreceptors showed rudimentary outer segments with an axoneme, but did not develop outer segment discs that were clearly present in the wild type counterpart. At p21 the mutant outer segments appeared much the same as the P10 mutant outer segments with only a short axoneme, while the wild-type controls had developed outer segments with many well-organized discs. We conclude that MKS3 is not important for formation of connecting cilium and rudimentary outer segments, but is critical for the maturation of outer segment processes. PMID:23516626

  2. Noninvasive electrocardiomapping facilitates previously failed ablation of right appendage diverticulum associated life-threatening accessory pathway.

    PubMed

    Hocini, Mélèze; Shah, Ashok J; Cochet, Hubert; Maury, Philippe; Denis, Arnaud; Haïssaguerre, Michel

    2013-05-01

    Combination of structural (CT-scan) and functional (3D electrocardiomapping) imaging methods helped successfully accomplish ablation of a life-threatening manifest accessory pathway in association with a complex right atrial anomaly after previous unsuccessful attempts of endo-epicardial ablation guided by the invasive electroanatomic system in an adolescent female. Such a system has a potential to facilitate the ablation procedure and impact its outcome through accurate localization of the arrhythmogenic substrate. PMID:23252769

  3. Radiological evidence of subcutaneous emphysema leading to a diagnosis of retroperitoneal perforated diverticulum

    PubMed Central

    Sivarajah, Vernon; Jones, Christopher; Pittathankal, Antony

    2013-01-01

    INTRODUCTION This case report outlines the investigation and management of a young patient presenting with left iliac fossa pain and sepsis. A CT was performed which was initially reported as not showing a perforation, however closer analysis provided evidence of subcutaneous emphysema in the anterior abdominal wall. This evidence justified urgent operative intervention. We review the evidence with regard to this presentation. PRESENTATION OF CASE A previously fit 24-year-old male presented with left iliac fossa pain and features of sepsis. A CT provided subtle but distinctive evidence of retroperitoneal perforation secondary to diverticulitis, in the form of surgical emphysema in the anterior abdominal wall. In view of this, urgent operation was considered justified on suspicion of visceral perforation. A diverticular perforation was confirmed intra-operatively, and a sigmoid colectomy with primary anastomosis was performed, together with a covering ileostomy. The patient made a good post-operative recovery. DISCUSSION Diverticular disease and its complications are becoming more common in a younger age group, in whom perforation may present late or may not be suspected. In this context special attention must be paid to any radiological evidence of perforation. CONCLUSION Surgical emphysema in the abdominal wall is an indicator of retroperitoneal perforation, and its presence should be excluded before the possibility of perforation is dismissed. This may be of especial value in younger age groups amongst whom perforation may be less clinically obvious. PMID:23598175

  4. Intussusception in children under 2 years of age in the State of Qatar : analysis of 67 cases.

    PubMed

    Dawod, S T; Osundwa, V M

    1992-01-01

    Intussusception is one of the leading causes of bowel obstruction in early infancy and childhood. From 1984-1989, 67 patients under 2 years of age with intussusception were diagnosed and treated in our institution. There were 48 boys and 19 girls ranging in age from 2 months to 2 years with a mean of 7.4 months. Presenting symptoms and signs included abdominal pain (96%), vomiting (93%), rectal bleeding (60%) and a palpable mass (67%). Symptoms and signs were present for less than 24 hours in about 80% of cases. Most of the intussusceptions were of the ileocolic type (75%). The overall success rate of hydrostatic barium enema reduction was 49%. The highest rate of reduction by enema was among patients between 9 and 16 months of age (83%). The success rate of barium enema reduction was negligible after 24 hours of cardinal symptoms. Five children underwent surgical exploration without contrast studies because of delayed presentation and signs of an acute abdomen. A pathological lead point was found in only four cases, the commonest being Meckel's diverticulum. The average length of hospitalization was 2.57 days after barium enema reduction and 7.55 days after surgical reduction. There were no deaths. There was no case of perforation during enema reduction. Three children had recurrence within 3 months of initial presentation. The best outcome is associated with early diagnosis and barium enema reduction, or selected surgical intervention when indicated. PMID:1376579

  5. No protection in chickens immunized by the oral or intra-muscular immunization route with Ascaridia galli soluble antigen.

    PubMed

    Andersen, Janne Pleidrup; Norup, Liselotte R; Dalgaard, Tina S; Rothwell, Lisa; Kaiser, Pete; Permin, Anders; Schou, Torben W; Fink, Dorte R; Jungersen, Gregers; Sørensen, Poul; Juul-Madsen, Helle R

    2013-01-01

    In chickens, the nematode Ascaridia galli is found with prevalences of up to 100% causing economic losses to farmers. No avian nematode vaccines have yet been developed and detailed knowledge about the chicken immune response towards A. galli is therefore of great importance. The objective of this study was to evaluate the induction of protective immune responses to A. galli soluble antigen by different immunization routes. Chickens were immunized with a crude extract of A. galli via an oral or intra-muscular route using cholera toxin B subunit as adjuvant and subsequently challenged with A. galli. Only chickens immunized via the intra-muscular route developed a specific A. galli antibody response. Frequencies of γδ T cells in spleen were higher 7 days after the first immunization in both groups but only significantly so in the intra-muscularly immunized group. In addition, systemic immunization had an effect on both Th1 and Th2 cytokines in caecal tonsils and Meckel's diverticulum. Thus both humoral and cellular immune responses are inducible by soluble A. galli antigen, but in this study no protection against the parasite was achieved. PMID:23718808

  6. Intussusception in a premature neonate: A rare and often misdiagnosed clinical entity

    PubMed Central

    Prakash, Advait; Doshi, Bhavesh; Singh, Sangram; Vyas, Tanmay; Jain, Anvesh

    2015-01-01

    Intussusception is a very rare cause of intestinal obstruction in neonates. It is of extremely rare occurrence among premature neonates. We present a case of 11-day-old premature neonate who presented with abdominal distension, intolerance to feeds, vomiting, significant bilious aspirate and bleeding per rectum. The initial diagnosis of necrotizing enterocolitis (NEC) led to a delay in the diagnosis. On exploratory laparotomy, it turned out to be a case of ileo-colic intussusception with Meckel's diverticulum as a lead point. This site of intussusception (ileo-colic) and presence of a lead point among premature neonate is of exceedingly rare occurrence and very few such cases have been reported. In this article, the published work about clinical features and management on intussusceptions in premature neonates has been reviewed. The authors intend to highlight the difficulty in distinguishing the NEC and intussusception. Subtle clinical and radiological features which can help in differentiating the two conditions have been emphasized. This can avoid the delay in diagnosis and management which can prove critical. High index of suspicion with timely intervention is the key for optimizing outcome. A diagnosis of intussusception should always be considered in any preterm infant with suspected NEC. PMID:25659559

  7. Availability of Blood Urea Nitrogen/Creatinine Ratio in Gastrointestinal Bleeding with Melena in Children

    PubMed Central

    Kim, Kyu Seon; Kang, Chan Ho

    2015-01-01

    Purpose The aims of our study were to evaluate the blood urea nitrogen to creatinine ratio (BUN/Cr ratio) for distinguishing between an upper and lower gastrointestinal bleeding (GIB), and differentiating between the two most common causes of upper gastrointestinal bleeding (UGIB) presenting with melena in children. Methods Retrospective data of patients with GIB presenting with melena were analyzed. The data from 60 cases were reviewed including demographics, laboratory findings, diagnostic modalities and results, treatments, and transfusions. Results Among the 60 cases, UGIB and lower gastrointestinal bleeding (LGIB) were found in 35 cases (58.3%) and 14 cases (23.3%), respectively. The two common causes of UGIB were varices (37.1%), and peptic ulcer diseases (PUD) (31.4%). The BUN/Cr ratio of 30 or greater was higher in UGIB than LGIB (odds ratio [OR], 6.9; 95% confidence interval [95% CI], 1.3-37.2). In UGIB, the BUN/Cr ratio of the varices group was higher than that of the PUD group (p=0.015). The OR for the BUN/Cr ratio appeared as 1.2 per unit increase in the varices group than the PUD group (95% CI, 1.03-1.3). There was no difference between the PUD group and Meckel's diverticulum group. Conclusion The BUN/Cr ratio was not uneven in differentiating UGIB from LGIB of children with melena in our study. This suggests that BUN/Cr ratio should be interpreted carefully. PMID:25866731

  8. Adult duodenal intussusception associated with congenital malrotation

    PubMed Central

    Gardner-Thorpe, J; Hardwick, RH; Carroll, NR; Gibbs, P; Jamieson, NV; Praseedom, RK

    2007-01-01

    Enteroenteric intussusception is a condition in which full-thickness bowel wall becomes telescoped into the lumen of distal bowel. In adults, there is usually an abnormality acting as a lead point, usually a Meckels' diverticulum, a hamartoma or a tumour. Duodeno-duodenal intussusception is exceptionally rare because the retroperitoneal situation fixes the duodenal wall. The aim of this report is to describe the first published case of this condition. A patient with duodeno-duodenal intussusception secondary to an ampullary lesion is reported. A 66 year-old lady presented with intermittent abdominal pain, weight loss and anaemia. Ultrasound scanning showed dilated bile and pancreatic ducts. CT scanning revealed intussusception involving the full-thickness duodenal wall. The lead point was an ampullary villous adenoma. Congenital partial (type II) malrotation was found at operation and this abnormality permitted excessive mobility of the duodenal wall such that intussusception was possible. This condition can be diagnosed using enhanced CT. Intussusception can be complicated by bowel obstruction, ischaemia or bleeding, and therefore the underlying cause should be treated as soon as possible. PMID:17657849

  9. Lower gastrointestinal bleeding.

    PubMed

    Silber, G

    1990-09-01

    The differential diagnosis of lower gastrointestinal bleeding in children can be reduced markedly simply by taking into account the age of the child. The clinical condition of the patient can further help narrow the diagnostic possibilities. Newborns and infants who are clinically unstable are more likely to have diseases such as necrotizing enterocolitis, volvulus, Hirschprung disease, intussusception, or Meckel diverticulum. A baby who appears healthy should be examined for swallowed blood, allergic colitis, anal fissures, or lymphonodular hyperplasia. An older child of healthy appearance with bleeding is likely to have a juvenile polyp or infectious colitis, but a child who appears sick may have hemolytic uremic syndrome, Henoch-Schoenlein purpura, or inflammatory bowel disease. This information, along with that gleaned from the physical examination, can lead the pediatrician to determine the need for specific tests, such as abdominal radiographs, stool cultures, and an endoscopic evaluation. We have come a long way in our ability to diagnose the causes of lower gastrointestinal bleeding. With the availability of newer radiographic and nuclear medicine modalities and the ability to visualize the colon endoscopically, the need for exploratory laparotomy for diagnosis is rarer. While surgery may still be the therapy of choice, new diagnostic modalities give the surgeon much more preoperative information. PMID:2235771

  10. Enterohepatic Helicobacter other than Helicobacter pylori.

    PubMed

    Mateos-Muñoz, Beatriz; Pérez-de-la-Serna, Julio; Ruiz-de-León, Antonio; Serrano-Falcón, Blanca; Casabona-Francés, Sergio; Velasco-Cerrudo, Aurelio; Rey-Díaz-Rubio, Enrique

    2013-09-01

    The Helicobacter genus includes Gram negative bacteria which were originally considered to belong to the Campylobacter genus. They have been classified in a separate genus since 1989 because they have different biochemical characteristics, with more than 24 species having been identified and more still being studied.H. pylori is the best known. It has an important etiopathogenic role in peptic ulcer disease and gastric cancer. Enterohepatic Helicobacters (EHH) other than H. pylori colonize the bowel, biliary tree and liver of animals and human beings with pathogenic potential. The difficulties existing to correctly isolate these microorganisms limit the description of their true prevalence and of the diseases they cause. Many studies have tried to discover the different clinical implications of EHH. Diseases like chronic liver disease, autoimmune hepatitis, hepatocarcinoma, autoimmune hepatobiliary disease, biliary lithiasis, cholangiocarcinoma and gallbladder cancer, Meckel´s diverticulum, acute appendicitis and inflammatory bowel disease have been related with different EHH species with different results, although their prevalence is greater than in healthy subjects. However, these data are currently not sufficient to draw definitive conclusions. Finally, the best known role of EHH in bowel disease is production of acute and chronic diarrhea pictures initially referred to as Campylobacter. H. pullorum has been identified in patients with acute gastroenteritis. The correct identification of EHH as producers of infectious gastroenteritis is found in its antibiotic susceptibility. It is generally macrolide-susceptible and quinolone-resistant. PMID:24274445

  11. Small Bowel Obstruction due to Anomalous Congenital Bands in Children

    PubMed Central

    Soysal, Feryal Gun; Ozbey, Huseyin; Keskin, Erbug; Celik, Alaattin; Karadag, Aslı; Salman, Tansu

    2016-01-01

    Introduction. The aim of the study was to evaluate our children who are operated on for anomalous congenital band while increasing the awareness of this rare reason of intestinal obstruction in children which causes a diagnostic challenge. Patients and Methods. We retrospectively reviewed the records of fourteen children treated surgically for intestinal obstructions caused by anomalous congenital bands. Results. The bands were located between the following regions: the ascending colon and the mesentery of the terminal ileum in 4 patients, the jejunum and mesentery of the terminal ileum in 3 patients, the ileum and mesentery of the terminal ileum in 2 patients, the ligament of Treitz and mesentery of the jejunum in one patient, the ligament of Treitz and mesentery of the terminal ileum in one patient, duodenum and duodenum in one patient, the ileum and mesentery of the ileum in one patient, the jejunum and mesentery of the jejunum in one patient, and Meckel's diverticulum and its ileal mesentery in one patient. Band excision was adequate in all of the patients except the two who received resection anastomosis for intestinal necrosis. Conclusion. Although congenital anomalous bands are rare, they should be considered in the differential diagnosis of patients with an intestinal obstruction. PMID:27478432

  12. Acute Abdominal Pain in Children.

    PubMed

    Reust, Carin E; Williams, Amy

    2016-05-15

    Acute abdominal pain accounts for approximately 9% of childhood primary care office visits. Symptoms and signs that increase the likelihood of a surgical cause for pain include fever, bilious vomiting, bloody diarrhea, absent bowel sounds, voluntary guarding, rigidity, and rebound tenderness. The age of the child can help focus the differential diagnosis. In infants and toddlers, clinicians should consider congenital anomalies and other causes, including malrotation, hernias, Meckel diverticulum, or intussusception. In school-aged children, constipation and infectious causes of pain, such as gastroenteritis, colitis, respiratory infections, and urinary tract infections, are more common. In female adolescents, clinicians should consider pelvic inflammatory disease, pregnancy, ruptured ovarian cysts, or ovarian torsion. Initial laboratory tests include complete blood count, erythrocyte sedimentation rate or C-reactive protein, urinalysis, and a pregnancy test. Abdominal radiography can be used to diagnose constipation or obstruction. Ultrasonography is the initial choice in children for the diagnosis of cholecystitis, pancreatitis, ovarian cyst, ovarian or testicular torsion, pelvic inflammatory disease, pregnancy-related pathology, and appendicitis. Appendicitis is the most common cause of acute abdominal pain requiring surgery, with a peak incidence during adolescence. When the appendix is not clearly visible on ultrasonography, computed tomography or magnetic resonance imaging can be used to confirm the diagnosis. PMID:27175718

  13. Factors identified for negative appendicectomies.

    PubMed

    Mirza, M R; Habib, L; Jaleel, F

    2009-07-01

    The study was done, to determine the factors for negative appendicectomies. This prospective descriptive study includes patients managed at four non teaching and a teaching hospital of Karachi from March 2006 to February 2008. One hundred and sixty eight patients underwent appendicectomy during the study period. Details of clinical presentations, investigations, operative findings and histopathology were entered and analyzed. Literature search was aimed to see the negative appendicectomy rate (NAR) in last ten years despite using diagnostic tools (clinical scoring, diagnostic imaging and laparoscopy). In this study a total number of 168 patients under went appendicectomy. Normal appendices were found in 31 patients (negative appendicectomy rate was 18.45%) and associated pathology was seen in 13 patients, an incidental finding of Meckel's diverticulum in 5 patients and no other pathology was seen in 13 patients. The different factors which we identified for negative appendicectomies in our practice were non teaching hospitals where diagnostic scoring system was difficult to apply, female gender, selective use of imaging modality, other pathologies presenting with pain in right lower quadrant (RLQ) and requiring surgical intervention, and non-availability of CT scan and laparoscopy. Despite many advances in diagnostic system, acute appendicitis is still a diagnostic dilemma at times. Although there is no substitute for clinical judgment but in sub groups of patients in whom the possibility of negative appendicectomy is high, diagnostic modalities should be used judiciously to decrease the negative exploration. PMID:19623147

  14. Intussusception caused by dried apricot: A case report

    PubMed Central

    Puckett, Yana; Nathan, Jon; Dissanaike, Sharmila

    2014-01-01

    INTRODUCTION An unusual cause of intussusception due to small bowel obstruction secondary to dried apricot consumption was encountered. Phytobezoar small bowel obstruction is a rare, but interesting pathology that accounts for 2–4% of small bowel obstructions (18). Even rarer, is an intussusception caused by dried fruit ingestion. We present the case of a 56-year-old female that presented with an intussusception after she ingested a large amount of dried apricots. PRESENTATION OF CASE The patient is a 56-year-old female with a small bowel obstruction secondary to intussusception in the distal ileum. She was taken to the operating room for a celiotomy where an intussusception of the distal small bowel was found. An enterotomy was performed which revealed dried apricots as the lead point. The intussusception was successfully reduced and the apricots removed. DISCUSSION Small bowel obstruction due to intussusception can be caused secondary to malignancy, Meckel's Diverticulum, benign neoplasm, and strictures. A less common cause for small bowel obstruction due to intussusception in adults is secondary to mechanical obstruction by bezoars. Risk factors for bezoar formation include previous gastric surgery, diabetes, and mastication problems. CONCLUSION Bezoars are an extremely rare cause of intussusception in adults. A high level of suspicion needs to exist in the presence of a history of eating dried fruit, history of gastric surgery, diabetes mellitus, and problems with mastication. Various treatment modalities exist to treat obstructions secondary to bezoars, including open reduction and removal of bezoar via enterotomy. PMID:25437689

  15. Vitellointestinal Duct Anomalies in Infancy

    PubMed Central

    Kadian, Yogender Singh; Verma, Anjali; Rattan, Kamal Nain; Kajal, Pardeep

    2016-01-01

    Background: Vitellointestinal duct (VID) or omphalomesenteric duct anomalies are secondary to the persistence of the embryonic vitelline duct, which normally obliterates by weeks 5–9 of intrauterine life. Methods: This is a retrospective analysis of a total of 16 patients of symptomatic remnants of vitellointestinal duct from period of Jan 2009 to May 2013. Results: Male to female ratio (M:F) was 4.3:1 and mean age of presentation was 2 months and their mode of presentation was: patent VID in 9 (56.25%) patients, umbilical cyst in 2(12.25%), umbilical granuloma in 2 (12.25%), and Meckel diverticulum as content of hernia sac in obstructed umbilical hernia in 1 (6.25%) patient. Two patients with umbilical fistula had severe electrolyte disturbance and died without surgical intervention. Conclusion: Persistent VID may have varied presentations in infancy. High output umbilical fistula and excessive bowel prolapse demand urgent surgical intervention to avoid morbidity and mortality. PMID:27433448

  16. Obscure bleeding colonic duplication responds to proton pump inhibitor therapy.

    PubMed

    Jacques, Jérémie; Projetti, Fabrice; Legros, Romain; Valgueblasse, Virginie; Sarabi, Matthieu; Carrier, Paul; Fredon, Fabien; Bouvier, Stéphane; Loustaud-Ratti, Véronique; Sautereau, Denis

    2013-09-21

    We report the case of a 17-year-old male admitted to our academic hospital with massive rectal bleeding. Since childhood he had reported recurrent gastrointestinal bleeding and had two exploratory laparotomies 5 and 2 years previously. An emergency abdominal computed tomography scan, gastroscopy and colonoscopy, performed after hemodynamic stabilization, were considered normal. High-dose intravenous proton pump inhibitor (PPI) therapy was initiated and bleeding stopped spontaneously. Two other massive rectal bleeds occurred 8 h after each cessation of PPI which led to a hemostatic laparotomy after negative gastroscopy and small bowel capsule endoscopy. This showed long tubular duplication of the right colon, with fresh blood in the duplicated colon. Obscure lower gastrointestinal bleeding is a difficult medical situation and potentially life-threatening. The presence of ulcerated ectopic gastric mucosa in the colonic duplication explains the partial efficacy of PPI therapy. Obscure gastrointestinal bleeding responding to empiric anti-acid therapy should probably evoke the diagnosis of bleeding ectopic gastric mucosa such as Meckel's diverticulum or gastrointestinal duplication, and gastroenterologists should be aware of this potential medical situation. PMID:24124344

  17. Minimally conjoined omphalopagi: a consistent spectrum of anomalies.

    PubMed

    Poenaru, D; Uroz-Tristan, J; Leclerc, S; Murphy, S; St-Vil, D; Youssef, S; Blanchard, H

    1994-09-01

    Omphalapagus twins constitute less than one third of all siamese twins. Most omphalopagi are attached by a skin bridge that often contains hepatic tissue. Only four cases of omphalopagi attached by an intestinal bridge have been reported. The authors present two additional cases of conjoined twins minimally attached by a small bowel and bladder bridge. In both instances, the spectrum of anomalies included a ruptured omphalocele and imperforate anus with cloacal anomalies. The attachment consisted of an open urachal remnant joining the two bladders, and the short small bowel of twin A attached to the terminal ileum of twin B. Separation was uneventful. For one set of twins, the case part of the proximal colon of twin B was used to lengthen the bowel of twin A. Three of the twins survived and underwent additional procedures for repair of the cloacal anomalies. All four previously reported cases of minimally conjoined omphalopagi presented with a remarkably similar spectrum of anomalies. All had ruptured omphaloceles, imperforate anus with cloacal anomalies, and urachal anomalies. Intestinal connection was consistently at a point corresponding to the Meckel diverticulum site of twin B, with blood supply to the small bowel of twin A, probably via the vitelline artery. The consistent spectrum of anomalies encountered with minimally conjoined omphalopagi allows planning of separation. Caution is required to avoid overlooking the patent urachus, and intestinal lengthening procedures based on the vitelline artery become an important consideration. PMID:7807355

  18. Therapeutic Applications of Octreotide in Pediatric Patients

    PubMed Central

    Al-Hussaini, Abdulrahman; Butzner, Decker

    2012-01-01

    Background/Aim: We report our experience with the use of octreotide as primary or adjunctive therapy in children with various gastrointestinal disorders. Patients and Methods: A pharmacy database identified patients who received octreotide for gastrointestinal diseases. Indications for octreotide use, dosing, effectiveness, and adverse events were evaluated by chart review. Results: A total of 21 patients (12 males), aged 1 month to 13 years, were evaluated. Eleven received octreotide for massive gastrointestinal bleeding caused by portal hypertension-induced lesions (n=7), typhlitis (1), Meckel's diverticulum (1), and indefinite source (2). Blood transfusion requirements were reduced from 23±9 mL/kg (mean±SD) to 8±15 mL/kg (P<0.01). Four patients with pancreatic pseudocyst and/or ascites received octreotide over 14.0±5.7 days in 2 patients. In 3 children, pancreatic pseudocyst resolved in 12±2 days and pancreatic ascites resolved in 7 days in 2. Three patients with chylothorax received octreotide for 14±7 days with complete resolution in each. Two infants with chronic diarrhea received octreotide over 11±4.2 months. Stool output decreased from 85±21 mL/kg/day to 28±18 mL/kg/day, 3 months after initiation of octreotide. The child with dumping syndrome responded to octreotide in a week. Adverse events developed in 4 patients: Q-T interval prolongation and ventricular fibrillation, hyperglycemia, growth hormone deficiency, and hypertension. Conclusion: Octreotide provides a valuable addition to the therapeutic armamentum of the pediatric gastroenterologist for a wide variety of disorders. Serious adverse events may occur and patients must be closely monitored. PMID:22421712

  19. Single-port laparoscopic surgery in children: A new alternative in developing countries

    PubMed Central

    Mahdi, Ben Dhaou; Rahma, Chtourou; Mohamed, Jallouli; Riadh, Mhiri

    2015-01-01

    Background: Single-incision laparoscopic surgery (SILS) is a technique in laparoscopic surgery, which is based on the idea that all the laparoscopic trocars are inserted through a single umbilical incision. This paper documents a single-centre experience, which performed the single-port surgery in children using an improvised trans-umbilical glove-port with conventional rigid instruments. Materials and Methods: We prospectively studied the outcomes of SILS procedures between January 2013 and June 2014. Materials required making our homemade trans-umbilical port consisted on: A flexible ring, a rigid larger ring, one powder-free surgical glove, a wire-to-skin and standard standards laparoscopic trocars. Results: A total of 90 consecutive procedures had been done in our institution: 15 girls and 75 boys (mean age: 7.5 years). We used SILS on 59 appendectomies with an average operative time of 48 minutes. We needed conversion to conventional surgery in three cases (two with perforated appendicitis and one for difficulty to mobilize the appendix). SIL cholecystectomy was performed for four patients with symptomatic cholelithiasis; mean operative time was 60 min. All patients were discharged on postoperative day 2. Eighteen boys with non-palpable testis were explored and treated. Other procedures included: Varicocelectomy (n = 2), intra-abdominal lymph node biopsies (n = 2), ovarian cystectomy (n = 1), ovarian transposition (n = 1), aspiration of renal hydatid cyst (n = 1), explorative laparoscopy in research to Meckel's diverticulum (n = 1) and intestinal intussusceptions (n = 1). No post-operative complications were seen in all cases. Conclusions: SILS in the paediatric population using conventional rigid instruments is feasible, safe and effective. It may be an alternative to the costly commercially available single-port systems especially in a developing country like Tunisia. PMID:26168750

  20. Diverticular Disease

    MedlinePlus

    ... pushed outward through weak spots in the colon wall. Each pouch is called a diverticulum. Multiple pouches ... occurs when a small blood vessel within the wall of a diverticulum bursts. [ Top ] What is diverticulosis? ...

  1. UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource

    ClinicalTrials.gov

    2016-08-23

    Hepato/Renal Fibrocystic Disease; Autosomal Recessive Polycystic Kidney Disease; Joubert Syndrome; Bardet Biedl Syndrome; Meckel-Gruber Syndrome; Congenital Hepatic Fibrosis; Caroli Syndrome; Oro-Facial-Digital Syndrome Type I; Nephronophthisis; Glomerulocystic Kidney Disease

  2. Nutritional characteristics of camelina meal for 3-week-old broiler chickens.

    PubMed

    Pekel, A Y; Kim, J I; Chapple, C; Adeola, O

    2015-03-01

    Limited information on nutritional characteristics on camelina meal for broiler chickens limits its use in diets of broiler chickens. The objectives of this study were to determine the ileal digestible energy (IDE), ME, and MEn contents of 2 different camelina meal (CM1 and CM2) samples for 3-wk-old broiler chickens using the regression method and to determine glucosinolate compounds in the camelina meal samples. The CM1 and CM2 were incorporated into a corn-soybean meal-based reference diet at 3 levels (0, 100, or 200 g/kg) by replacing the energy-yielding ingredients. These 5 diets (reference diet, and 100 and 200 g/kg camelina meal from each of CM1 and CM2) were fed to 320 male Ross 708 broilers from d 21 to 28 post hatching with 8 birds per cage and 8 replicates per treatment in a randomized complete block design. Excreta were collected twice daily from d 25 to 28, and jejunal digesta and ileal digesta from the Meckel's diverticulum to approximately 2 cm proximal to the ileocecal junction were collected on d 28. The total glucosinolate content for CM1 and CM2 were 24.2 and 22.7 nmol/mg, respectively. Jejunal digesta viscosity was linearly increased (P<0.001) from 2.2 to 4.1 cP with increasing dietary camelina meal levels. There were linear effects (P<0.001) of CM1 and CM2 substitution on final weight, weight gain, feed intake, and G:F. The inclusion of CM1 and CM2 linearly decreased (P<0.001) ileal digestibility of DM, energy, and IDE. The supplementation of CM1 and CM2 linearly decreased (P<0.001) the retention of DM, nitrogen, and energy; ME, and MEn. By regressing the CM1 and CM2-associated IDE intake in kilocalories against kilograms of CM1 and CM2 intake, the IDE regression equation was Y=-10+1,429×CM1+2,125×CM2, r2=0.55, which indicates that IDE values were 1,429 kcal/kg of DM for CM1 and 2,125 kcal/kg of DM for CM2. The ME regression was Y=5+882×CM1+925×CM2, r2=0.54, which implies ME values of 882 kcal/kg of DM for CM1 and 925 kcal/kg of DM for CM2

  3. Origin of the torus mandibularis: an embryological hypothesis.

    PubMed

    Rodríguez-Vázquez, José Francisco; Sakiyama, Koji; Verdugo-López, Samuel; Amano, Osamu; Murakami, Gen; Abe, Shinichi

    2013-11-01

    Torus mandibularis, a well-known protuberance in the dental field, has been defined as a hyperostosis in the lingual aspect of the body of the mandible above the mylohyoid line. However, the origin of the torus mandibularis has not yet been clarified. The aim of this study was to provide a better understanding on the origin of the torus in view of the specific development of Meckel's cartilage at the site corresponding to the adult torus. A total of 40 mid-term human fetuses at 7-16 weeks of gestation were examined. The 10-13 weeks stage corresponded to the critical period in which Meckel's cartilage with endochondral ossification underwent a bending at the beginning of the intramandibular course. At the level of mental foramen, which was located between the deciduous canine and the first deciduous molar germs, the medial lamina of the mandible protruded medially to reach Meckel's cartilage. Thus, the medial lamina covered the posterior and superior aspect of the bending Meckel's cartilage just above the attachment of the developing mylohyoid muscle (i.e., in the oral cavity). We considered a bony prominence, which composed the protruding medial lamina and the bending Meckel's cartilage as the fetal origin of the torus mandibularis. A new theory is proposed for the origin of the torus mandibularis based on the existence of an anlage formed during the development of the mandible, variable in morphology and size, but always constant. PMID:23813628

  4. Bladder stones

    MedlinePlus

    ... such as: Bladder diverticulum Enlarged prostate Neurogenic bladder Urinary tract infection Almost all bladder stones occur in men. Bladder ... stream Pain, discomfort in the penis Signs of urinary tract infection (such as fever, pain when urinating, and need ...

  5. Endoscopic Management of Bladder Diverticula.

    PubMed

    Pham, Khanh N; Jeldres, Claudio; Hefty, Thomas; Corman, John M

    2016-01-01

    A 50-year-old man with benign prostatic hyperplasia and urinary retention had a very large diverticulum on the posterior wall of the bladder. The patient was managed with transurethral resection of the prostate and endoscopic fulguration of the bladder diverticulum mucosa using the Orandi technique. There was near-complete resolution of the bladder diverticulum following endoscopic management, obviating the need for bladder diverticulectomy. The patient now empties his bladder, with a postvoid residual < 50 mL and the absence of urinary tract infection after 6-month follow-up. We report the successful treatment of a large bladder diverticulum with endoscopic fulguration to near-complete resolution. This minimally invasive technique is a useful alternative in patients unfit for a more extensive surgical approach. PMID:27601971

  6. Imaging for the Diagnosis of an Unusual Case of Left Ventricular Aneurysm

    SciTech Connect

    Russo, G. Sarais, C.; Corbetti, F.; Ramondo, A.; Daliento, L.

    2005-04-15

    An isolated ventricular diverticulum in an adult patient investigated for chest pain is reported. An exhaustive diagnosis was obtained by different means and complementary imaging techniques such as echocardiography, cardiovascular magnetic resonance imaging and cineangiography.

  7. Endoscopic Management of Bladder Diverticula

    PubMed Central

    Pham, Khanh N.; Jeldres, Claudio; Hefty, Thomas; Corman, John M.

    2016-01-01

    A 50-year-old man with benign prostatic hyperplasia and urinary retention had a very large diverticulum on the posterior wall of the bladder. The patient was managed with transurethral resection of the prostate and endoscopic fulguration of the bladder diverticulum mucosa using the Orandi technique. There was near-complete resolution of the bladder diverticulum following endoscopic management, obviating the need for bladder diverticulectomy. The patient now empties his bladder, with a postvoid residual < 50 mL and the absence of urinary tract infection after 6-month follow-up. We report the successful treatment of a large bladder diverticulum with endoscopic fulguration to near-complete resolution. This minimally invasive technique is a useful alternative in patients unfit for a more extensive surgical approach. PMID:27601971

  8. [Plea for a unifying concept of the cavernous sinus and the trigeminal cavity].

    PubMed

    Bataille, B; Sakka, M; Lapierre, F

    The object of this study is a scientific research in human and compared anatomy of the cavernous sinus and Meckel's cave. The observations made in the foetus and human adult are compared to these made in non human primates and domestic mammals, the cavernous sinus and the Meckel's cave contribute to realize a entirety that we call "a morphological and functional anatomical system". The human cavernous sinus and Meckel's cave are described as an indissociable parasellar space representing a heavy traffic area for vascular and nervous structures. In the human and non human primates, the authors observe a parasellar space which agreed with the concept of "trigeminal-cavernous anatomical system". In the cat, the same observations are made and an osseous outline closing the roof of the parasellar space is observed; this is the evidence of a more ancient osseous or cartilaginous wall. The authors demonstrate in the last part of this study that the morphogenesis of this trigeminal-cavernous system is in relation with the phylogenic development of its morphological and functional environment, that we call the "externation". This study is of interest: to a best understanding of the tumors involving the cavernous sinus, to a semantic point of view: an attempt to a review of the terminology applied to the cavernous sinus and Meckel's cave. PMID:7729219

  9. Neural interconnections between portio minor and portio major at the porus trigeminus: application to failed surgical treatment of trigeminal neuralgia.

    PubMed

    Tubbs, R Shane; Griessenauer, Christoph J; Hogan, Elizabeth; Loukas, Marios; Cohen-Gadol, Aaron A

    2014-01-01

    Recalcitrant trigeminal neuralgia following surgical treatment can be a life-altering condition. To explore alternative anatomic reasons for such a complication, the authors examined the potential for nerve connections between the sensory and motor roots of the trigeminal nerve at the opening of Meckel's cave (porus trigeminus). In 15 embalmed adult cadavers (30 sides), the authors performed microdissection of the skull base and specifically at the opening of Meckel's cave. Two sides (6.67%) were found to have interneural connections between the sensory and motor roots at Meckel's cave. These occurred in one male and one female cadaver, both on right sides. Both connections were histologically verified to be neural and were 0.5 mm in diameter and 2.2 and 3.2 mm in length, respectively. Both connections traveled in an oblique fashion from the portio major to the portio minor. On the basis of authors' findings, the sensory and motor components of the trigeminal nerve at the opening of Meckel's cave may be interconnected with a neural anastomosis. Such findings may be of use during the surgical treatment of trigeminal neuralgia or other surgery of the posterior fossa so that inadvertent transection or traction does not occur. PMID:23943366

  10. Educating the Teacher of English: Selected Addresses Delivered at the Conference on English Education (3rd, University of Kentucky, March 18-20, 1965).

    ERIC Educational Resources Information Center

    Stryker, David, Ed.

    The 10 addresses in this volume on teacher education illustrate the conference theme of combining the old with the new. Henry C. Meckel surveys what is good in the current preparation of English teachers, and Carl A. Lefevre and Father Daniel Fogarty discuss, respectively, the contributions of linguistic studies and of current thinking about…

  11. Diagnosis and management of congenital vascular rings: a 22-year experience.

    PubMed

    Chun, K; Colombani, P M; Dudgeon, D L; Haller, J A

    1992-04-01

    Between 1968 and 1990, we operatively treated 39 patients (19 boys, 20 girls) with congenital aortic arch anomalies. Median age was 7 months (range, 1.5 months to 23 years). Thirty-seven patients (95%) had respiratory symptoms. Barium swallow was diagnostic in 95%. Right arch with aberrant left subclavian artery and double aortic arch were the most common types (11 each). Treatment of an aortic diverticulum was documented in 19 patients; the aortic diverticulum was excised (9), managed by aortopexy (7), or left in situ (3). Postoperative recovery was rapid, with a median intensive care unit stay of 2 days, time to oral feeding of 1 day, and postoperative time to discharge of 7 days. Two deaths occurred: 1 infant had undergone emergent operation for control of hemorrhage from an aortotracheal fistula due to tracheostomy tube erosion, and the other had multiple associated congenital heart defects. Postoperative complications included bleeding (1), pneumonia (5), and chylothorax (4). One boy had persistent severe symptoms due to an untreated aortic diverticulum and underwent subsequent excision of the aortic diverticulum with complete relief of symptoms. Median length of follow-up was 12.5 months, with at least 97% of survivors completely or nearly completely free of symptoms from the vascular ring. These results suggest that early repair of congenital aortic vascular rings, including fixating or excising an associated serious aortic diverticulum, is safe and effective and allows for normal tracheal growth. PMID:1554267

  12. Percutaneous Nephroscopic Surgery

    PubMed Central

    2010-01-01

    With the development of techniques for percutaneous access and equipment to disintegrate calculi, percutaneous nephroscopic surgery is currently used by many urologists and is the procedure of choice for the removal of large renal calculi and the management of diverticula, intrarenal strictures, and urothelial cancer. Although it is more invasive than shock wave lithotripsy and retrograde ureteroscopic surgery, percutaneous nephroscopic surgery has been successfully performed with high efficiency and low morbidity in difficult renal anatomies and patient conditions. These advantages of minimal invasiveness were rapidly perceived and applied to the management of ureteropelvic junction obstruction, calyceal diverticulum, infundibular stenosis, and urothelial cancer. The basic principle of endopyelotomy is a full-thickness incision of the narrow segment followed by prolonged stenting and drainage to allow regeneration of an adequate caliber ureter. The preferred technique for a calyceal diverticulum continues to be debated. Excellent long-term success has been reported with percutaneous, ureteroscopic, and laparoscopic techniques. Each approach is based on the location and size of the diverticulum. So far, percutaneous ablation of the calyceal diverticulum is the most established minimally invasive technique. Infundibular stenosis is an acquired condition usually associated with inflammation or stones. Reported series of percutaneously treated infundibular stenosis are few. In contrast with a calyceal diverticulum, infundibular stenosis is a more difficult entity to treat with only a 50-76% success rate by percutaneous techniques. Currently, percutaneous nephroscopic resection of transitional cell carcinoma in the renal calyx can be applied in indicated cases. PMID:20495691

  13. The Role of Speech and Language Therapy in Assessing and Managing Pharyngo-esophageal Diverticula.

    PubMed

    Holmes, E; Kenny, C; Samuel, M; Regan, J; O'Rourke, J; McCoubrey, C

    2015-01-01

    This study explores the contribution of Speech and Language Therapists (SLTs) to the assessment and management of patients presenting on videofluoroscopic swallow studies (VFSS) with a suspected pharyngo-oesophageal diverticulum. Records for all patients who attended for VFSS in an acute hospital over an eleven-year period were examined (N = 1820). Twenty patients were identified on VFSS as having a suspected diverticulum. Symptoms suggestive of a diverticulum were found during both bedside clinical examination and radiographic examination e.g. respiratory difficulties (n = 15; 75%), voice changes (n = 14; 70/0). VFSS confirmed a reduced risk of aspiration for 14 patients (70%) using a combination of fluid modification (n = 9; 45%), food modification (n = 13; 65%) and swallow strategies (n = 14; 70%). VFSS confirmed aspiration directly related to the diverticulum in 11 patients (55%). Findings indicate that SLTs have the opportunity to identify potential diverticula and implement behavioural management to reduce associated health risks. This is of particular importance to patients who are awaiting, or cannot undergo, surgical repair of their diverticulum. PMID:26817284

  14. PubMed Central

    BIZZOTTO, A.; IACOPINI, F.; LANDI, R.; COSTAMAGNA, G.

    2013-01-01

    SUMMARY Zenker's diverticulum is an acquired sac-like outpouching of the mucosa and submucosa layers located dorsally at the pharyngoesophageal junction through Killian's dehiscence. It is the most common type of oesophageal diverticula with a reported prevalence ranging between 0.01 to 0.11% and typically occurs in middle-aged and elderly patients. Predominant symptoms are dysphagia and regurgitation. Treatment is recommended for symptomatic patients and considering the aetiopathogenesis of the disease demands myotomy of the cricopharyngeal muscle. Myotomy may be pursued through either open surgical or endoscopic techniques. Management of Zenker's diverticulum has dramatically progressed during past decades. Open surgery with cricopharyngeal myotomy has long been the conventional treatment with satisfactory results, but is associated with high complication rates. Since Zenker's diverticulum mainly affects frail elderly patients, less invasive treatments are indicated. In recent years, endoscopic repair of Zenker's diverticulum has been found to be a viable safe and effective alternative to surgery and gained widespread acceptance. Endoscopic stapled diverticulotomy is generally the preferred approach, but flexible endoscopy is a valuable option, particularly for high-risk patients. The literature is mainly based on retrospective case series or comparative case series, and the optimal treatment modality has not yet been established. The choice between the different approaches depends on local expertise and preferences. Based on retrospective literature results, appropriate technique selection dictated by the size of the diverticulum and the patient's conditions is however desirable. PMID:24043908

  15. Periampullary Diverticula Misdiagnosed as Cystic Pancreatic Lesions: A Review of 3 Cases

    PubMed Central

    Ng, Chee Hui; Lee, Chau Hung

    2016-01-01

    Case series Patient: Female, 67 • Male, 69 • Female, 65 Final Diagnosis: Periampullary diverticulum Symptoms: — Medication: — Clinical Procedure: Magnetic Resonance Imaging Specialty: Radiology Objective: Diagnostic/therapeutic accidents Background: Cystic lesions on the pancreatic head can mimic fluid-filled duodenal or periampullary diverticula. We reviewed a series of cases in which periampullary diverticula were misdiagnosed as cystic pancreatic lesions. Case Report: Case 1. A Chinese woman presented to the surgical outpatient clinic for intermittent upper abdominal discomfort. Contrast-enhanced MRI of the abdomen revealed a cystic-appearing lesion in the region of the pancreatic head, which was reported as a cystic pancreatic lesion. A follow-up scan showed this lesion to be filled with fluid, gas, and debris, suggestive of a periampullary diverticulum. Review of a prior CT scan confirmed a periampullary diverticulum. Case 2. A Chinese man with a history of chronic hepatitis B infection underwent an MRI of the liver, which revealed a cystic-appearing lesion in the region of the pancreatic head, reported as a cystadenoma or pseudocyst. The patient underwent an endoscopic ultrasound. A large periampullary diverticulum was discovered but there was no pancreatic head lesion. Case 3. A Chinese woman with a history total hysterectomy and bilateral salpingo-oophorectomy for ovarian malignancy underwent an MRI of the abdomen and pelvis. A cystic-appearing lesion was found in the region of the pancreatic head, which was reported as a cystadenoma or intraductal papillary mucinous neoplasm. Follow-up magnetic resonance cholangiopancreatography showed a signal void within, suggestive of gas within a periampullary diverticulum. Review of a prior CT scan showed a periampullary diverticulum. Conclusions: Periampullary diverticula, when fluid-filled, can be confused with cystic lesions in the pancreatic head. Radiologists should be aware of this potential pitfall

  16. Missed diagnosis of anterior urethral valve complicated with a foreign body: a cause for concern.

    PubMed

    Nayyar, Rishi; Chavda, Sundeep; Singh, Prabhjot; Gupta, Narmada P

    2011-01-01

    Anterior urethral valve (AUV) is a long known but rare anomaly, which is occasionally encountered in boys with obstructive uropathy. We present a case of AUV with a diverticulum which was misdiagnosed at other center as neurogenic bladder resulting in chronic renal failure. The case was further complicated by breakage of tip of the catheter used for clean intermittent catheterization (CIC) in the diverticulum presenting as a foreign body in the urethra. This article highlights the frequently missed diagnosis of AUV by most practitioners wrongly labeling it as neurogenic bladder, leading to improper management and renal failure in young boys. PMID:21478596

  17. Primary congenital bladder diverticula: Where does the ureter drain?

    PubMed Central

    Macedo, Antonio; Garrone, Gilmar; Ottoni, Sérgio Leite; Oliveira, Diego Estevam; do Rosário Souza, Geórgia Rubiane Meira; da Cruz, Marcela Leal

    2015-01-01

    Background: Primary congenital bladder diverticulum (PCBD) is related to a deficient detrusor layer allowing out-pouching of the bladder mucosa through the inadequate muscularis wall. We aimed to review our experience with symptomatic PCBD in order to correlate clinical findings with anatomical aspects and to present late outcome. Materials and Methods: We reviewed all patients operated in our institution since 2004. We evaluated the charts for complaints, radiological exams, method of treatment, complications and length of follow-up. Results: We treated 10 cases (11 renal units - [RU]), predominantly males (9/10), mean age at surgery of 5.3 years. All patients had significant urological complaints presenting either with antenatal hydronephrosis (4) or febrile urinary tract infection (5) and urinary retention in one. The ureter was found implanted inside the diverticulum in 8/11 RU. An extravesical psoas-hitch ureteroneocystostomy and diverticulum resection was performed in 10/11 cases, whereas 1 case was treated intravesically based on surgeon's preference without performing cystoscopy. Mean follow-up was 34.1 months (1-120) without complications. Conclusions: PCBD is an uncommon diagnosis and has a high probability of drainage inside the diverticulum (72.7%). We recommend the extravesical approach associated with diverticulectomy and ureteroneocystostomy as the preferred technique to treat this abnormality. PMID:26712296

  18. Giant urethral calculus

    PubMed Central

    Kotkar, Kunal; Thakkar, Ravi; Songra, MC

    2011-01-01

    Primary urethral calculus is rarely seen and is usually encountered in men with urethral stricture or diverticulum. We present a case of giant urethral calculus secondary to a urethral stricture in a man. The patient was treated with calculus extraction with end to end urethroplasty. PMID:24950400

  19. Unusual presentation of sigmoid diverticulitis as an acute scrotum.

    PubMed

    Klutke, C G; Miles, B J; Obeid, F

    1988-02-01

    We report a case of inflammation of the spermatic cord and testicle resulting from a perforated diverticulum of the sigmoid colon. Management included sigmoid resection with diversion, right orchiectomy and débridement of the right groin. To our knowledge this is the first reported case of retroperitoneal necrotizing fasciitis presenting initially as an acute scrotum. PMID:3339751

  20. Uncommon Caecum Diverticulitis Mimicking Acute Appendicitis

    PubMed Central

    Yilmaz, Özkan; Kiziltan, Remzi; Bayrak, Vedat; Çelik, Sebahattin; Çalli, Iskan

    2016-01-01

    Diverticulum of the cecum is a rarely seen reason of acute abdomen and it is difficult to be distinguished from appendicitis. The diagnosis is generally made during operation. We have presented this case in order to remember that it is a disease which should be kept in mind in cases of right lower quadrant pain. PMID:27006852

  1. Characterization and antimicrobial resistance of Salmonella isolated from internal tissues, ceca and rinse samples from commercial broiler chickens

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The presence, serotype, and antimicrobial resistance profile of Salmonella from internal tissues (spleen, liver/gall bladder, thymus, Meckel’s diverticulum, and free floating yolk), ceca and carcass rinse samples were determined from six-week-old (n=30) and eight-week-old (n=40) commercial broilers ...

  2. Jejunal duplication in an adult presenting with hematochezia.

    PubMed

    Inoue, Kazuhiko; Sakiyama, Toshio; Setoyama, Kanae; Iwashita, Yuji; Saito, Seiya; Hanada, Norihisa; Komohara, Yoshihiro; Sasaki, Fumisato; Numata, Masatsugu; Ido, Akio

    2016-01-01

    A 56-year-old man was admitted to our hospital with appetite loss, palpitations, orthostatic syncope, and hematochezia. Contrast-enhanced abdominal computed tomography (CT) revealed a proximal jejunal diverticulum with contrast extravasation. We immediately performed transoral double balloon enteroscopy (DBE) to treat the bleed in the jejunum, and this revealed a small ulcer with an exposed vessel at the opening of the jejunal diverticulum. Hemostasis was achieved endoscopically with argon plasma coagulation (APC) and hemoclips. During subsequent surgery, the diverticulum was found on the mesenteric side of the jejunum. We performed laparoscopy-assisted partial resection of the jejunum, and pathological examination showed that the diverticulum shared a common proper muscle layer with the jejunum and was covered by jejunal mucosa with no ectopic mucosa. Therefore, we diagnosed jejunal duplication. After hospital discharge, the patient had no recurrence of hematochezia or anemia. We report a rare case of jejunal duplication presenting with hematochezia, which was diagnosed as jejunal diverticular bleeding by CT and DBE before surgery. Pathological analysis confirmed jejunal duplication after surgery. We suggest that intestinal diverticular bleeding, as well as duplication of the gastrointestinal tract, should be considered as part of the differential diagnosis of obscure gastrointestinal bleeding. PMID:27052396

  3. Extradural Dermoid Cyst of the Anterior Infratemporal Fossa. Case Report

    PubMed Central

    Watanabe, Kentaro; Filomena, Carol A.; Nonaka, Yoichi; Matsuda, Masahide; Zomorodi, Ali R.; Friedman, Allan H.; Fukushima, Takanori

    2015-01-01

    Dermoid cysts are rare in the skull base. There have been 10 reported cases of dermoid cysts in the cavernous sinus, two in the petrous apex, and one in the extradural Meckel cave. This is the first case report of a dermoid cyst in the anterior infratemporal fossa attached to the anterior dura of the foramen ovale. The clinical presentation, radiologic findings, histologic features, tumor origin, and operative technique are described along with a review of the literature. PMID:26623226

  4. Multiple congenital anomalies syndrome with multicystic renal dysplasia, postaxial polydactyly and lumbosacral meningocoele. Difficulties in nosological classification and genetic counseling.

    PubMed

    Witters, I; Moerman, Ph; Natens, R; Van Assche, F A; Fryns, J P

    2002-01-01

    In this report we describe a 17 weeks old female fetus with a lumbosacral meningocoele, multicystic renal dysplasia (Potter type IIb) and postaxial polydactyly type A at the left hand and left foot. There was no hepatic fibrosis. Although multicystic renal dysplasia and postaxial polydactyly are often present in the Meckel syndrome, a lumbosacral neural tube defect is not a typical finding in this syndrome. PMID:12150214

  5. Vesicoscopic Treatment of Symptomatic Congenital Bladder Diverticula in Children: A 7-Year Experience.

    PubMed

    Marte, Antonio; Cavaiuolo, Silvia; Esposito, Maria; Pintozzi, Lucia

    2016-06-01

    Introduction The objective of this study was to report on the use of vesicoscopy in the treatment of symptomatic congenital bladder diverticula (CBD) in children. Material and Methods In this study, 16 males, aged 4 to 12 years (median age, 6.25 years), were treated for symptomatic CBD; 3 patients presented double diverticulum and 13 presented single diverticulum. The presenting symptoms were recurrent urinary tract infection, hematuria, lower abdominal pain, and voiding dysfunctions as urgency, frequency alone, or in association. A first midline 5-mm trocar was introduced for a 0-degree telescope at the dome of the bladder, and two left and right 3- or 5-mm trocars were inserted through the anterolateral wall. The bladder was then insufflated with carbon dioxide to 10 to 12 mm Hg pressure. The diverticula were inverted into the bladder and the mucosa around the neck was circumcised by using scissors and hook. The defect was sutured and the bladder was drained. Vesicoureteral reflux (VUR) of third grade or higher was treated endoscopically. Results Mean operative time was 90 minutes for procedures. At 6-month follow-up, ultrasound and voiding cystourethrogram (VCUG) showed the disappearance of the diverticulum in 15 out of the 16 patients. The patient, with huge double diverticulum and fourth grade right VUR, presented recurrence of a small left diverticulum. Patients with voiding disorders presented a gradual improvement of their urgency. VUR disappeared at VCUG in all patients. Conclusion Vesicoscopic diverticulectomy resulted a safe and effective procedure and can be considered a valid alternative to the open or laparoscopic procedures. In our opinion, routine use of vesicoscopy could become the gold standard for the treatment of CBD in children. PMID:25988747

  6. Petrous apex cephalocoele: contribution of coexisting intracranial pathologies to the aetiopathogenesis

    PubMed Central

    Duran, S; Hatipoglu, H G; Cılız, D S; Elverici, E; Sakman, B

    2015-01-01

    Objective: The aim of this study was to show the MRI findings of petrous apex cephalocoele (PAC) and the other intracranial pathologies that coexist with PAC, and to discuss the contribution of the co-existing pathologies to aetiopathogenesis. Methods: A retrospective analysis of our imaging archive for the period from January 2012 to October 2013 revealed 13 patients with PAC (12 females and 1 male; age range, 26–69 years). 11 patients underwent MRI examination of the cranium, and 2 patients underwent MRI examination of the sellar region. We evaluated the lesions for content, signal intensity, enhancement, relation to petrous apex and Meckel's cave. Images were also evaluated for coexisting pathologies. Results: The presenting symptoms included headache, vertigo, cerebrospinal fluid (CSF) leak and trigeminal neuropathy. All patients had PAC. All lesions were located posterolateral to the Meckel's cave and were isointense with CSF signal on all pulse sequences. All lesions were continuous with Meckel's cave. Coexisting pathologies included intracranial aneurysmal dilatation, empty sella, mass in hypophysis, arachnoid cyst, inferior herniation of parahippocampal gyrus and optic nerve sheath CSF distension. Conclusion: Coexistence with other intracranial pathologies supports the possibility of CSF imbalance and/or intracranial hypertension in the aetiopathogenesis of PAC. Advances in knowledge: This study examined the contribution of the co-existing intracranial pathologies to the aetiopathogenesis of PAC. PMID:25651410

  7. TCTN3 Mutations Cause Mohr-Majewski Syndrome

    PubMed Central

    Thomas, Sophie; Legendre, Marine; Saunier, Sophie; Bessières, Bettina; Alby, Caroline; Bonnière, Maryse; Toutain, Annick; Loeuillet, Laurence; Szymanska, Katarzyna; Jossic, Frédérique; Gaillard, Dominique; Yacoubi, Mohamed Tahar; Mougou-Zerelli, Soumaya; David, Albert; Barthez, Marie-Anne; Ville, Yves; Bole-Feysot, Christine; Nitschke, Patrick; Lyonnet, Stanislas; Munnich, Arnold; Johnson, Colin A.; Encha-Razavi, Férechté; Cormier-Daire, Valérie; Thauvin-Robinet, Christel; Vekemans, Michel; Attié-Bitach, Tania

    2012-01-01

    Orofaciodigital syndromes (OFDSs) consist of a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of 13 OFDS subtypes. Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations as the cause of an extreme form of OFD associated with bone dysplasia, tibial defect, cystic kidneys, and brain anomalies (OFD IV, Mohr-Majewski syndrome). Analysis of 184 individuals with various ciliopathies (OFD, Meckel, Joubert, and short rib polydactyly syndromes) led us to identify four additional truncating TCTN3 mutations in unrelated fetal cases with overlapping Meckel and OFD IV syndromes and one homozygous missense mutation in a family with Joubert syndrome. By exploring roles of TCTN3 in human ciliary related functions, we found that TCTN3 is necessary for transduction of the sonic hedgehog (SHH) signaling pathway, as revealed by abnormal processing of GLI3 in patient cells. These results are consistent with the suggested role of its murine ortholog, which forms a complex at the ciliary transition zone with TCTN1 and TCTN2, both of which are also implicated in the transduction of SHH signaling. Overall, our data show the involvement of the transition zone protein TCTN3 in the regulation of the key SHH signaling pathway and that its disruption causes a severe form of ciliopathy, combining features of Meckel and OFD IV syndromes. PMID:22883145

  8. An unanticipated difficult airway in Lesch–Nyhan syndrome

    PubMed Central

    Salhotra, Rashmi; Sharma, Chhavi; Tyagi, Asha; Kumar, Surendra; Sethi, AK; Bhatt, Shuchi

    2012-01-01

    An 11-year-old boy with Lesch–Nyhan syndrome presented to the emergency for fixation of a fractured femur. During induction of general anesthesia, unexpected difficult intubation was encountered with a 6.5-mm ID endotracheal tube and successively smaller tubes, also failing to pass 1 cm beyond the vocal cords. Intubation was finally achieved with a 4.5-mm ID tube. The surgery was completed uneventfully. A tracheal diverticulum was found in the computerized tomography (CT) scan performed postoperatively to account for this unexpected difficult intubation. This case highlights the anesthetic concerns in Lesch-Nyhan syndrome and also reports the rare occurrence of a tracheal diverticulum associated with it. PMID:22557752

  9. Modeling data for pancreatitis in presence of a duodenal diverticula using logistic regression

    NASA Astrophysics Data System (ADS)

    Dineva, S.; Prodanova, K.; Mlachkova, D.

    2013-12-01

    The presence of a periampullary duodenal diverticulum (PDD) is often observed during upper digestive tract barium meal studies and endoscopic retrograde cholangiopancreatography (ERCP). A few papers reported that the diverticulum had something to do with the incidence of pancreatitis. The aim of this study is to investigate if the presence of duodenal diverticula predisposes to the development of a pancreatic disease. A total 3966 patients who had undergone ERCP were studied retrospectively. They were divided into 2 groups-with and without PDD. Patients with a duodenal diverticula had a higher rate of acute pancreatitis. The duodenal diverticula is a risk factor for acute idiopathic pancreatitis. A multiple logistic regression to obtain adjusted estimate of odds and to identify if a PDD is a predictor of acute or chronic pancreatitis was performed. The software package STATISTICA 10.0 was used for analyzing the real data.

  10. Percutaneous holmium laser fulguration of calyceal diverticula.

    PubMed

    Alwaal, Amjad; Azhar, Raed A; Andonian, Sero

    2012-01-01

    Introduction. Calyceal diverticular stones are uncommon findings that represent a challenge in their treatment, due to the technical difficulty in accessing the diverticulum, and the high risk of their recurrence. Current percutaneous technique for calyceal diverticular stones involves establishing a renal access, clearing the stone, and fulguration of the diverticular lining with a roller-ball cautery electrode using hypotonic irrigation solution such as sterile water or glycine solution which may be associated with the absorption of hypotonic fluids with its inherent electrolyte disturbances. Case Report. In this paper, we present for the first time percutaneous holmium laser fulguration of calyceal diverticula in 2 patients using normal saline. Their immediate postoperative sodium was unchanged and their follow-up imaging showed absence of stones. Both patients remain asymptomatic at 30 months post-operatively. Conclusion. This demonstrates that holmium laser is a safe alternative method to fulgurate the calyceal diverticulum after clearing the stone percutaneously. PMID:22606636

  11. Vitelline cyst in the rat ileum

    PubMed Central

    Oshikata, Takafumi; Kobayashi, Azusa; Kumabe, Shino; Kawasako, Kazufumi; Katoku, Koshirou; Mitsuishi, Mikio; Kanno, Takeshi; Hamamura, Masao

    2015-01-01

    Congenital vitelline duct anomalies other than Meckel’s diverticulum are rare in animals. A cyst of approximately 8 mm in diameter was observed on the antimesenteric surface of the ileal serosa in a 10-week-old female Crl:CD(SD) rat. Microscopically, the cyst closely resembled the ileum, but it did not communicate with the ileal lumen. We diagnosed this case as a vitelline cyst derived from the vitelline duct based on the location where it developed and its histological behavior. In rats, only Meckel’s diverticulum has been reported with a congenital anomaly of the vitelline duct, and no other spontaneous anomalies including a vitelline cyst have been reported. This case may be the first report concerning a vitelline cyst in the rat ileum. PMID:26538812

  12. Left Colon Diverticulitis Presenting as Perforated Lumbar Abscess: A Case Report and Review of the Current Literature

    PubMed Central

    Paramythiotis, Daniel; Kofina, Konstantinia; Papadopoulos, Vassileios N.; Michalopoulos, Antonios

    2015-01-01

    Diverticular perforation is a common complication of diverticulitis and can lead to the creation of abscesses. The presence of such abscesses on the abdominal wall is rare and can lead to misdiagnosis. We present the case of a patient with abdominal pain and the formation of a large left lumbar abscess due to perforation of a diverticulum of the left colon and our surgical treatment of choice with favorable results. PMID:26881151

  13. Complex Cervical Aortic Arch With Hypoplasia: A Simple Solution to a Complex Problem.

    PubMed

    Rajbanshi, Bijoy G; Gautam, Navin C; Pradhan, Sidhartha; Sharma, Apurb; Ghimire, Ram K; Joyce, Lyle D

    2016-07-01

    We report a rare case of a 6-year-old boy with a complex right-sided cervical aortic arch, with retroesophageal hypoplastic transverse arch, left subclavian artery arising from the Kommerell diverticulum of the descending aorta, and a vascular ring formed by the ductus ligament. An extraanatomic ascending-to-descending aorta bypass was done through a median sternotomy along with division of the ductus ligament, without any complications and good results. PMID:27343523

  14. A Case of Giant Right Atrial Aneurysm in a Child.

    PubMed

    Pawar, Ravindra S; Tiwari, Ashish; Suresh, P V; Raj, Vimal; Kaushik, Pradeepkumar

    2016-07-01

    Giant right atrial aneurysm is a rare entity in infants and children. It needs to be distinguished from an atrial diverticulum, which can have similar presentation. Generally, an incidental finding in children, it can present with varied symptoms. We report a case of a giant right atrial aneurysm in an asymptomatic child with a large clot in the dilated right atrium, who underwent successful resection of the atrial aneurysm. PMID:26884450

  15. Common Pediatric Urological Disorders

    PubMed Central

    Robson, Wm. Lane M.; Leung, Alexander K.C.; Boag, Graham S.

    1991-01-01

    The clinical and radiological presentations of 12 pediatric urological disorders are described. The described disorders include pyelonephritis, vesicoureteral reflux, ureteropelvic obstruction, ureterovesical obstruction, ectopic ureterocele, posterior urethral valves, multicystic dysplastic kidney, polycystic kidney disease, ectopic kidney, staghorn calculi, urethral diverticulum, and urethral meatal stenosis. ImagesFigure 1-2Figure 3Figure 3Figure 4Figure 5Figure 6-7Figure 8-9Figure 10Figure 11-12 PMID:21229068

  16. Intussusception in Children with a Pathological Appendix Acting as a "Lead Point" - A Series of 3 Cases

    PubMed Central

    Joshi, Sanjeev B.; Kinhal, Vidyadhar; Kola, Sivasai Krishnaprasad; K, Sundeep V

    2015-01-01

    Meckel’s diverticulum is commonest lead point for intussusception in children. Appendix is part of the intusssusception of the commonest ileocolic type but appendix as lead point for intussusception is rare. We report a series of 3 cases of intussusception in children, wherein a pathological appendix was the lead point. We would like to propose that more likely a pathological appendix, acts as a lead point leading to an appendico-caeco-colic intussusception rather than a normal appendix. PMID:26393166

  17. Spontaneous Colo-Umbilical Fistula Complicating Diverticulitis of the Sigmoid Colon

    PubMed Central

    Kouklakis, Georgios; Courcoutsakis, Nikos; Oikonomou, Panagoula; Karayiannakis, Anastasios J.

    2013-01-01

    Colocutaneous fistula caused by diverticulitis is relatively uncommon with colo-umbilical fistulas being even rarer. We herein report a rare case of a spontaneous colo-umbilical fistula due to diverticulitis of the sigmoid colon. The fistula developed from a diverticulum of the sigmoid colon that discharged through the umbilicus after two episodes of acute diverticulitis. The condition was successfully treated by resectional surgery. PMID:23841011

  18. Cystic Abnormalities of the Spinal Cord and Vertebral Column.

    PubMed

    da Costa, Ronaldo C; Cook, Laurie B

    2016-03-01

    Cystic lesions of the vertebral column and spinal cord are important differential diagnoses in dogs with signs of spinal cord disease. Synovial cysts are commonly associated with degenerative joint disease and usually affect the cervical and lumbosacral regions. Arachnoid diverticulum (previously known as cyst) is seen in the cervical region of large breed dogs and thoracolumbar region of small breed dogs. This article reviews the causes, diagnosis, and treatment of these and other, less common, cystic lesions. PMID:26706913

  19. Identification, expression and regulation of amphioxus G6Pase gene with an emphasis on origin of liver.

    PubMed

    Wang, Yu; Wang, Hui; Li, Mengyang; Gao, Zhan; Zhang, Shicui

    2015-04-01

    Vertebrate glucose-6-phosphatase (G6Pase) consists of three isozymes: G6Pase-I, G6Pase-II and G6Pase-III. Despite extensive study on G6Pases in vertebrates, information regarding expression and regulation of G6Pase genes is rather limited in invertebrates. Here we report the identification of G6Pase gene in amphioxus Branchiostoma japonicum, which is abundantly expressed in the digestive diverticulum and ovary in a tissue-specific manner. The phylogenetic and genomic structure analyses reveal that amphioxus G6Pase bears close resemblance to vertebrate G6Pase-III and represents the archetype of vertebrate G6Pase from which the vertebrate G6Pase isoforms may be originated by 2 rounds of genome duplication during vertebrate evolution. We also demonstrate that GH treatment induces a closely similar expression pattern and trend of g6pases in both zebrafish and amphioxus, and that G6Pase activity in amphioxus digestive diverticulum is subjected to regulation of feeding and fasting as observed in vertebrates. Collectively, all these provide functional evidences supporting the notion that the digestive diverticulum is the liver homologue playing a key role in maintaining the glucose homeostasis in amphioxus. PMID:25745818

  20. Development of the olfactory and vomeronasal organs in Discoglossus pictus (Discoglossidae, Anura).

    PubMed

    Královec, Karel; Žáková, Pavla; Mužáková, Vladimíra

    2013-01-01

    Using histological techniques and computer-aided three-dimensional reconstructions of histological serial sections, we studied the development of the olfactory and vomeronasal organs in the discoglossid frog Discoglossus pictus. The olfactory epithelium in larval D. pictus represents one continuous unit of tissue not divided into two separate portions. However, a small pouch of olfactory epithelium (the "ventromedial diverticulum") is embedded into the roof of the buccal cavity, anteromedial to the internal naris. The lateral appendix is present in D. pictus through the entire larval period and disappears during the onset of metamorphosis. The disappearance of the lateral appendix at this time suggests that it is a typical larval organ related to aquatic life. The vomeronasal organ develops during hindlimb development, which is comparatively late for anurans. The development of the vomeronasal organ in D. pictus follows the same general developmental pattern recognized for neobatrachians. As with most anurans, the vomeronasal glands appear later than the vomeronasal organ. After metamorphosis, the olfactory organ of adult D. pictus is composed of a series of three interconnected chambers: the cavum principale, cavum medium, and cavum inferius. We suggest that the ventromedial diverticulum at the anterior border of the internal naris of larval D. pictus might be homologous with the ventral olfactory epithelium of bufonids and with the similar diverticulum of Alytes. PMID:22972712

  1. Endonasal Endoscopic Management of Parasellar and Cavernous Sinus Meningiomas.

    PubMed

    Lobo, Bjorn; Zhang, Xin; Barkhoudarian, Garni; Griffiths, Chester F; Kelly, Daniel F

    2015-07-01

    The management of cavernous sinus and invasive parasellar meningiomas often requires a multimodality treatment approach. Early attempts at complete or near-complete removal of parasellar meningiomas involving the cavernous sinus, Meckel cave, clivus, and sella using anterolateral or lateral skull base approaches were typically unsuccessful and yielded high rates of new cranial neuropathy and other complications. This article presents a strategy of endonasal endoscopic parasellar skull base bony decompression and limited tumor removal followed by stereotactic radiotherapy, stereotactic radiosurgery, or observation. Patient selection, technical nuances, potential complications, and initial outcomes in a small series of patients are discussed. PMID:26141358

  2. Eigenmannia besouro, a new species of the Eigenmannia trilineata species-group (Gymnotiformes: Sternopygidae) from the rio São Francisco basin, northeastern Brazil.

    PubMed

    Peixoto, Luiz Antônio W; Wosiacki, Wolmar B

    2016-01-01

    A new species of the Eigenmannia trilineata species-group is described from the rio São Francisco basin, Brazil. It is distinguished from closely related species by a unique set of characters, including a subterminal mouth, the presence of ii,13-14 pectoral-fin rays, a coronomeckelian bone that is 30% the length of Meckel's cartilage, the specific pattern of the dentition of the premaxilla and dentary, and the more anterior origin of the superior midlateral stripe. Comments on species of the E. trilineata species-group are presented. PMID:27395586

  3. Typical trigeminal neuralgia associated with posterior cranial fossa tumors.

    PubMed

    Puca, A; Meglio, M

    1993-10-01

    A clinical diagnosis of typical trigeminal neuralgia does not rule out the possibility of a space-occupying lesion compressing the nerve along its course from the brainstem to Meckel's cave. 4 cases of typical trigeminal neuralgia, treated medically for several years and seen here recently before a space-occupying lesion was found in the posterior cranial fossa, point up the need for thorough neurological and neuroradiological examination of all patients with the typical symptoms. Lesion removal resulted in total relief from pain in 3 patients. In the fourth patient the pain was controlled by percutaneous surgery with thermocoagulation of the gasserian ganglion. PMID:8282526

  4. Mammalian development does not recapitulate suspected key transformations in the evolutionary detachment of the mammalian middle ear.

    PubMed

    Ramírez-Chaves, Héctor E; Wroe, Stephen W; Selwood, Lynne; Hinds, Lyn A; Leigh, Chris; Koyabu, Daisuke; Kardjilov, Nikolay; Weisbecker, Vera

    2016-01-13

    The ectotympanic, malleus and incus of the developing mammalian middle ear (ME) are initially attached to the dentary via Meckel's cartilage, betraying their origins from the primary jaw joint of land vertebrates. This recapitulation has prompted mostly unquantified suggestions that several suspected--but similarly unquantified--key evolutionary transformations leading to the mammalian ME are recapitulated in development, through negative allometry and posterior/medial displacement of ME bones relative to the jaw joint. Here we show, using µCT reconstructions, that neither allometric nor topological change is quantifiable in the pre-detachment ME development of six marsupials and two monotremes. Also, differential ME positioning in the two monotreme species is not recapitulated. This challenges the developmental prerequisites of widely cited evolutionary scenarios of definitive mammalian middle ear (DMME) evolution, highlighting the requirement for further fossil evidence to test these hypotheses. Possible association between rear molar eruption, full ME ossification and ME detachment in marsupials suggests functional divergence between dentary and ME as a trigger for developmental, and possibly also evolutionary, ME detachment. The stable positioning of the dentary and ME supports suggestions that a 'partial mammalian middle ear' as found in many mammaliaforms--probably with a cartilaginous Meckel's cartilage--represents the only developmentally plausible evolutionary DMME precursor. PMID:26763693

  5. Ossification of the Posterior Petroclinoid Dural Fold: A Cadaveric Study with Neurosurgical Significance.

    PubMed

    Kimball, David; Kimball, Heather; Matusz, Petru; Tubbs, R Shane; Loukas, Marios; Cohen-Gadol, A Aaron

    2015-08-01

    Objectives The roof of the porus trigeminus, composed of the posterior petroclinoid dural fold, is an important landmark to the skull base surgeon. Ossification of the posterior petroclinoid dural fold is an anatomical variation rarely mentioned in the literature. Such ossification results in the trigeminal nerve traversing a bony foramen as it enters Meckel cave. The authors performed this study to better elucidate this anatomical variation. Design Fifteen adult cadaveric head halves were subjected to dissection of the middle cranial fossa. Microdissection techniques were used to examine the posterior petroclinoid dural folds. Skull base osteology was also studied in 71 dry human skulls with attention paid to the attachment point of the posterior petroclinoid dural folds at the trigeminal protuberances. Setting Cadaver laboratory Main Outcome Measures Measurements were made using a microcaliper. Digital images were made of the dissections. Results Completely ossified posterior petroclinoid folds were present in 20% of the specimens. Of the 142 dry skull sides examined, 9% had large trigeminal protuberances. Conclusions Based on this study, the posterior petroclinoid dural fold may completely ossify in adults that may lead to narrowing of the porus trigeminus and potential compression of the trigeminal nerve at the entrance to Meckel cave. PMID:26225315

  6. Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis

    PubMed Central

    Veleri, Shobi; Manjunath, Souparnika H.; Fariss, Robert N.; May-Simera, Helen; Brooks, Matthew; Foskett, Trevor A.; Gao, Chun; Longo, Teresa A.; Liu, Pinghu; Nagashima, Kunio; Rachel, Rivka A.; Li, Tiansen; Dong, Lijin; Swaroop, Anand

    2014-01-01

    The primary cilium originates from the mother centriole and participates in critical functions during organogenesis. Defects in cilia biogenesis or function lead to pleiotropic phenotypes. Mutations in centrosome-cilia gene CC2D2A result in Meckel and Joubert syndromes. Here we generate a Cc2d2a-/- mouse that recapitulates features of Meckel syndrome including embryonic lethality and multi-organ defects. Cilia are absent in Cc2d2a-/- embryonic node and other somatic tissues; disruption of cilia-dependent Shh signaling appears to underlie exencephaly in mutant embryos. The Cc2d2a-/- mouse embryonic fibroblasts (MEFs) lack cilia though mother centriole and pericentriolar proteins are detected. Odf2, associated with subdistal appendages, is absent and ninein is reduced in mutant MEFs. In Cc2d2a-/- MEFs, subdistal appendages are lacking or abnormal by transmission-EM. Consistent with this, CC2D2A localizes to subdistal appendages by immuno-EM in wild type cells. We conclude that CC2D2A is essential for the assembly of subdistal appendages, which anchor cytoplasmic microtubules and prime the mother centriole for axoneme biogenesis. PMID:24947469

  7. Fibrosing pseudotumor of the sella and parasellar area producing hypopituitarism and multiple cranial nerve palsies.

    PubMed

    Olmos, P R; Falko, J M; Rea, G L; Boesel, C P; Chakeres, D W; McGhee, D B

    1993-06-01

    We present an unusual patient with a medical history of a fibrosing pseudotumor of the left orbit that had been stable for 8 years who presented with acute anterior hypophyseal failure. During the next 10-month period, sequential magnetic resonance scans showed a rapid growth of a plaque-like sellar and parasellar mass extending into the right cavernous sinus, right Meckel's cave, along the dural surfaces of the clivus, dens, and body of the second cervical vertebra. A transsphenoidal biopsy revealed sphenoid and intrasellar pseudotumor that invaded the adenohypophysis and had microscopic features identical to those of the previously excised orbital pseudotumor. Rapid growth of the pseudotumor continued despite a course of radiotherapy. Palsies of cranial nerves V and VI and of the sensory root of the cranial nerve VII developed on the right side. Steroid therapy was associated with improvement of the cranial nerve palsies. This is the first report of the sellar fibrosing pseudotumor producing not only anterior hypophyseal failure, but also cranial nerve dysfunction secondary to plaque-like extension into the cavernous sinus, Meckel's cave, and cranial base dura. This intracranial plaque-like extension of a fibrous pseudotumor corresponds to a hypertrophic intracranial pachymeningitis, which is a rare, previously described phenomenon associated to the syndrome of multifocal fibrosclerosis. PMID:8327075

  8. Percutaneous Glycerol Rhizotomy for Trigeminal Neuralgia Using a Single-Plane, Flat Panel Detector Angiography System: Technical Note.

    PubMed

    Arishima, Hidetaka; Kawajiri, Satoshi; Arai, Hiroshi; Higashino, Yoshifumi; Kodera, Toshiaki; Kikuta, Ken-Ichiro

    2016-05-15

    Percutaneous treatments for trigeminal neuralgia (TN) including glycerol rhizotomy (GR), radiofrequency thermocoagulation (RT), and balloon compression (BC) are effective for patients with medical comorbidities and risk factors of microvascular decompression (MVD). These procedures are usually performed under fluoroscopy. Surgeons advance the needle to the trigeminal plexus through the foramen ovale while observing landmarks of fluoroscopic images; however, it is sometimes difficult to appropriately place the needle tip in Meckel's cave. We present the technical details of percutaneous GR using a single-plane, flat panel detector angiography system to check the needle positioning. When the needle tip may be located near the trigeminal cistern, three-dimensional (3-D) bone images are taken with cone-beam computed tomography (CT). These images clearly show the position of the needle tip in Meckel's cave. If it is difficult to place it through the foramen ovale, surgeons perform cone beam CT to observe the actual position of the needle tip at the skull base. After confirming the positional relation between the needle tip and foramen ovale, surgeons can advance it in the precise direction. In 10 procedures, we could place the nerve-block needle in about 14.5 minutes on average without complications. We think that our method is simple and convenient for percutaneous treatments for TN, and it may be helpful for surgeons to perform such treatments. PMID:27041633

  9. Cholecystectomy for Prevention of Recurrence after Endoscopic Clearance of Bile Duct Stones in Korea

    PubMed Central

    Song, Myung Eun; Lee, Dong-Jun; Oh, Tak Geun; Park, Jeong Youp; Bang, Seungmin; Park, Seung Woo; Song, Si Young; Chung, Jae Bock

    2016-01-01

    Purpose Cholecystectomy in patients with an intact gallbladder after endoscopic removal of stones from the common bile duct (CBD) remains controversial. We conducted a case-control study to determine the risk of recurrent CBD stones and the benefit of cholecystectomy for prevention of recurrence after endoscopic removal of stones from the CBD in Korean patients. Materials and Methods A total of 317 patients who underwent endoscopic CBD stone extraction between 2006 and 2012 were included. Possible risk factors for the recurrence of CBD stones including previous cholecystectomy history, bile duct diameter, stone size, number of stones, stone composition, and the presence of a periampullary diverticulum were analyzed. Results The mean duration of follow-up after CBD stone extraction was 25.4±22.0 months. A CBD diameter of 15 mm or larger [odds ratio (OR), 1.930; 95% confidence interval (CI), 1.098 to 3.391; p=0.022] and the presence of a periampullary diverticulum (OR, 1.859; 95% CI, 1.014 to 3.408; p=0.045) were independent predictive factors for CBD stone recurrence. Seventeen patients (26.6%) in the recurrence group underwent elective cholecystectomy soon after endoscopic extraction of CBD stones, compared to 88 (34.8%) in the non-recurrence group; the difference was not statistically significant (p=0.212). Conclusion A CBD diameter of 15 mm or larger and the presence of a periampullary diverticulum were found to be potential predictive factors for recurrence after endoscopic extraction of CBD stones. Elective cholecystectomy after clearance of CBD stones did not reduce the incidence of recurrent CBD stones in Korean patients. PMID:26632393

  10. Laparoscopic urinary bladder diverticulectomy combined with photoselective vaporisation of the prostate

    PubMed Central

    Eret, Viktor; Stránský, Petr; Trávníček, Ivan; Dolejšová, Olga; Chudáček, Zdeněk; Petersson, Fredrik; Hes, Ondřej; Chłosta, Piotr

    2015-01-01

    Introduction Pseudodiverticulum of the urinary bladder is mostly a complication of subvesical obstruction (SO). The gold standard of treatment was open diverticulectomy with adenectomy. A more contemporary resolution is endoscopic, in two steps: the first transurethral resection of the prostate (TURP), the second laparoscopic diverticulectomy (LD). Aim To present a one-session procedure – photoselective vaporisation of the prostate (PVP) with LD. Material and methods From 1/2011 to 6/2014, 14 LDs were performed: 1 LD only, 1 with laparoscopic radical prostatectomy, 12 combined with treatment of benign prostatic hyperplasia (BPH), 4 cases of TURP and LD in the second period. In 8 cases, PVP and LD in one session were combined. These 8 cases are presented. 3D CT cystography was used as a gold standard for assessment of diverticulum. Results The mean age was 66.5 ±5.5 (57.3–75.1) years, the mean size of the diverticulum 61.8 ±22.1 (26–90) mm. The procedure starts in the lithotomy position. It includes PVP and stenting of the ureter(s). Changing of position and laparoscopy follows: four ports, transperitoneal extravesical approach. Photoselective vaporisation of the prostate was performed using the Green Light Laser HPS (1x) or XPS with cooled fibre MoXy (7x). The mean delivered energy in PVP was 205.1 ±106.4 (120–458) kJ. The mean time of operation was 165.0 ±48.5 (90–255) min. No postoperative complications were observed. One patient underwent TUR incision after 1 year for sclerosis of the bladder neck. Conclusions Pseudodiverticulum of the urinary bladder (with or without SO) is a relatively rare disease. One session of PVP (Green Light Laser XPS, MoXy fibre) and laparoscopic (transperitoneal extravesical) diverticulectomy is the preferred method for treatment of subvesical obstruction due to BPH and bladder diverticulum at our institution. PMID:25960795

  11. MRI Findings of Intrinsic and Extrinsic Duodenal Abnormalities and Variations

    PubMed Central

    Erden, Ayse; Ustuner, Evren; Uzun, Caglar; Bektas, Mehmet

    2015-01-01

    This pictorial review aims to illustrate the magnetic resonance imaging (MRI) findings and presentation patterns of anatomical variations and various benign and malignant pathologies of the duodenum, including sphincter contraction, major papilla variation, prominent papilla, diverticulum, annular pancreas, duplication cysts, choledochocele, duodenal wall thickening secondary to acute pancreatitis, postbulbar stenosis, celiac disease, fistula, choledochoduodenostomy, external compression, polyps, Peutz-Jeghers syndrome, ampullary carcinoma and adenocarcinoma. MRI is a useful imaging tool for demonstrating duodenal pathology and its anatomic relationships with adjacent organs, which is critical for establishing correct diagnosis and planning appropriate treatment, especially for surgery. PMID:26576112

  12. Non-bulimia: food regurgitation in a patient with self-diagnosed bulimia.

    PubMed

    Copeland, P M; Herzog, D B

    1986-06-01

    The increased prevalence of bulimia has received great publicity by the news media. Such publicity predisposes individuals to self-diagnosis. A 57-year-old man with a 10-year history of food regurgitation presented to an eating disorder clinic complaining of bulimia, which he had heard discussed on a television talk show. He proved not to have bulimia but a large pharyngoesophageal (Zenker's) diverticulum. The diagnosis of bulimia may be misattributed to various symptoms by patients. The differential diagnosis of chronic regurgitation and vomiting must be considered in such patients. PMID:3086293

  13. Spontaneous Ruptured Uterus in an Adolescent With Polycystic Ovarian Syndrome and Endometrial Hyperplasia.

    PubMed

    Baquing, Mary Anne; Brotherton, Joy

    2015-01-01

    Uterine diverticula and rudimentary horns are rare forms of uterine anomalies that occur during embryogenesis. They can communicate with the endometrial cavity and may have the potential to develop pathology. This case report presents an obese, anovulatory adolescent with polycystic ovarian syndrome who was admitted with acute abdominal pain and found to have radiological findings that were concerning for a ruptured mass contiguous with the uterine cavity, which was likely a uterine horn or diverticulum. Further evaluation revealed simple hyperplasia without atypia on endometrial sampling, supporting the surgical resection and subsequent medical management of this young patient. PMID:26025488

  14. Catheterization of the urethra in female pigs.

    PubMed

    Musk, G C; Zwierzchoniewska, M; He, B

    2015-10-01

    Female pigs are commonly utilized as an animal model for biomedical research and require urethral catheterization. Sixteen pigs were anaesthetized for research purposes and required the placement of a urethral catheter. Post-mortem examination of the vaginas revealed the urethral opening to be consistently halfway from the mucocutaneous junction of the vulva to the cervix. A shallow diverticulum was also observed on the ventral floor of the urethral opening. To optimize conditions for success the pig should be carefully positioned supine, a vaginal speculum and light source should be used, the pig should be adequately anaesthetized, and the anatomy of the vagina should be reviewed. PMID:25977261

  15. Overview of left ventricular outpouchings on cardiac magnetic resonance imaging

    PubMed Central

    Kumar, Sanjeev

    2015-01-01

    Left ventricular outpouchings commonly include aneurysm, pseudoaneurysm, and diverticulum and are now being increasingly detected on imaging. Distinction between these entities is of prime importance to guide proper management as outcomes for these entities differ substantially. Chest radiograph is usually nonspecific in their diagnosis. Echocardiography, multi-detector computed tomography evaluation and angiography are helpful in the diagnosis with their inherit limitations. Cardiac magnetic resonance imaging (MRI) is emerging as a very useful tool that allows simultaneous anatomical and functional evaluation along with tissue characterization, which has diagnostic, theraputic and prognostic implications. This article gives an overview of left ventricular outpouchings with special emphasis on their differentiation using cardiac MRI. PMID:26675616

  16. Spontaneous regression of bronchogenic cyst accompanied by pneumonia.

    PubMed

    Himuro, Naoya; Minakata, Takao; Oshima, Yutaka; Kataoka, Daisuke; Yamamoto, Shigeru; Kadokura, Mitsutaka

    2015-12-01

    Bronchogenic cysts arise from abnormal budding of the ventral diverticulum of the foregut or tracheobronchial tree during embryogenesis, are the most common cystic masses in the mediastinum, and are generally asymptomatic. A spontaneous regression in a mediastinal bronchogenic cyst (MBC) with pneumonia is rare. A 30-year-old male had a tumor shadow in the middle mediastinum. When he visited our hospital, he had a mild fever with coughing and sputum. A chest computed tomography (CT) scan showed a decrease in the tumor size and the existence of right pneumonia. MBC may be involved in the etiology of pneumonia; therefore, bronchogenic cysts need to be resected as soon as possible. PMID:26943430

  17. Fulminant sepsis after liver biopsy: A long forgotten complication?

    PubMed Central

    Claudi, Corinna; Henschel, Martin; Vogel, Jürgen; Schepke, Michael; Biecker, Erwin

    2013-01-01

    We report on a 74-year-old patient with recurrent cholangitis and a large juxtapapillary duodenal diverticulum. Despite drainage of the common bile duct by an endoscopically placed stent, the elevated liver enzymes normalized only partially. To rule out other possible causes of liver injury, a percutaneous liver biopsy was done. After the liver biopsy the patient developed fulminant septic shock and died within 24 h. We discuss the possible causes of the septic shock following percutaneous liver biopsy in our patient and give a concise overview of the literature. PMID:24303461

  18. Complications of Intravesical Bacillus Calmette-Guérin

    PubMed Central

    Macleod, Liam C.; Ngo, Tin C.; Gonzalgo, Mark L.

    2014-01-01

    Intravesical Bacillus Calmette-Guérin (BCG) is an important treatment for the management of non-muscle invasive bladder cancer because of its proven efficacy and favourable safety profile. The most common complications associated with BCG treatment are relatively minor. They include urinary frequency, cystitis, fever, and hematuria. Although serious complications are rare, patients can develop severe, life-threatening sepsis with disseminated mycobacterial infection. We report a rare case of periurethral diverticulum formation after intravesical BCG and review the literature on the potential complications of this treatment modality. PMID:25210559

  19. Anterior Urethral Valve: A Rare But an Important Cause of Infravesical Urinary Tract Obstruction

    PubMed Central

    Parmar, Jitendra P.; Mohan, Chander; Vora, Maulik P.

    2016-01-01

    Summary Background Urethral valves are infravesical congenital anomalies, with the posterior urethral valve (PUV) being the most prevalent one. Anterior urethral valve (AUV) is a rare but a well-known congenital anomaly. AUV and diverticula can cause severe obstruction, whose repercussions on the proximal urinary system can be important. Few cases have been described; both separately and in association with urethral diverticulum. The presentation of such a rare but important case led us to a report with highlighting its classic imaging features. Case Report We present a case report of AUV with lower urinary tract symptoms in a 6-year-old boy with complaints of a poor stream of urine and strain to void. Unique findings were seen on Retrograde Urethrography (RGU) and Voiding Cysto-Urethrography (VCUG), i.e. linear incomplete filling defect in the penile urethra and associated mild dilatation of the anterior urethra ending in a smooth bulge. On cysto-urethroscopy the anterior urethral valve was confirmed and fulguration was done. Conclusions Congenital anterior urethral valve is an uncommon but important cause of infravesical lower urinary tract obstruction that is more common in male urethra. It can occur as an isolated AUV or in association with diverticulum and VATER anomalies. Early diagnosis and management of this rare condition is very important to prevent further damage, infection and vesicoureteral reflux. AUV may be associated with other congenital anomalies of the urinary system; therefore a full evaluation of the urinary system is essential. PMID:27231492

  20. Dual pathology—An unreported case

    PubMed Central

    Yap, Darren; Rasheed, Ashraf; Rashid, Majid

    2015-01-01

    Introduction Symptomatic biliary disease in children and young adults requiring surgical intervention are uncommon. However even rarer is the occurrence of a spontaneous gallbladder necrosis in a child. We report a case of spontaneous necrosis in a child with no apparent causative factors. Case Fit and well 16 year-old boy presented with acute generalized lower abdominal pain. Examination revealed mild epigastric pain with rebound tenderness and guarding of the right iliac fossa. Diagnostic laparoscopy showed a necrotic gallbladder and incidental finding of a Meckel’s diverticulum. He had a cholecystectomy and Meckel’s diverticulum resection. Patient recovered uneventfully and was discharged home. He was reviewed 2 months later and recovered well with no evidence of any post-operative complication. He was discharged without any further follow up. Discussion Gall bladder necrosis is a rare cause of an acute abdomen. We present the first reported case of a spontaneous gallbladder necrosis with no apparent cause. Literature review showed various causes of gall bladder necrosis including trauma, acalculous cholecystitis, gallbladder torsion, gangrenous cholecystitis and etc. Conclusion We report a case of spontaneous gallbladder necrosis in a young healthy male with no family history of thrombotic disorders or any history of sepsis, intervention, trauma and no obvious underlying anatomical or histological abnormalities. This is an exceedingly rare pathology and one would be forgiven for not including it on the list of a differential diagnosis in such circumstance. However it is important to send tissue sample to exclude any underlying histological aetiological factors. PMID:26657530

  1. Esophageal obstruction in horses: a retrospective study of 34 cases.

    PubMed Central

    Feige, K; Schwarzwald, C; Fürst, A; Kaser-Hotz, B

    2000-01-01

    The major purpose of this investigation was to describe the causes, possible complications, and prognoses of horses with esophageal obstruction. Of 34 cases presenting with esophageal obstruction, 28 cases were due to impaction of ingesta. Obstruction due to pre-existing esophageal disease occurred in 4 horses with megaesophagus, in 1 horse with stricture in the upper third of the esophagus, and in 1 horse with esophageal diverticulum. There was no significant difference in the contamination of the trachea between horses that subsequently developed aspiration pneumonia and those that did not. The duration of esophageal obstruction prior to admission was significantly longer in horses that developed aspiration pneumonia (median 18, range 2-48 h) than in those horses that did not (median 4, range 0.5-48 h). Although the obstruction was relieved in all 34 horses, 4 were euthanized because of recurring obstruction due to megaesophagus (n = 2), esophageal diverticulum (n = 1), and esophageal stricture (n = 1). Images Figure 1. Figure 2. Figure 3. PMID:10738598

  2. Morphology and taxonomy of Isognomon spathulatus (Reeve, 1858), a cryptic bivalve from the mangroves of Thailand.

    PubMed

    Tëmkin, Ilya; Printrakoon, Cheewarat

    2016-01-01

    Isognomon spathulatus (Reeve, 1858) is redescribed based on type material and original collections from Kungkrabaen Bay, Thailand. The species agrees with previously described isognomonids in most conchological and anatomical features, but possesses a suite of diagnostic characters, including a comma-shaped outline of the nacreous border, an uncoiled ventral diverticulum of the stomach, and the thickened mantle lobes with granulated cells. This study is the most comprehensive morphological analysis to date for any species of Isognomonidae Woodring, 1925 (1828). It describes and illustrates a number of previously unrecognized or underutilized anatomical characters of potential phylogenetic significance: the morphology of the byssal threads (cross-sectional shape, plumate rootlets, and the shape of adhesive disks), the presence and extent of the interdemibranchial buttresses, the presence of secretory cells in the central zone of the mantle, the shape of the ventral diverticulum of the gastric chamber, the presence of the typhlosolar guard ridge, and the position of the renal pore. A comparison is made between I. spathulatus and morphologically similar Isognomon ephippium (Linnaeus, 1758) with which it has been previously synonymized. Pearls of both species are described and illustrated. Individuals of I. spathulatus inhabit mangroves, where they attach by byssus to prop roots, typically in parapatry with individuals of I. ephippium that occupy adjacent mudflats. The spacial distribution and diverging adaptive strategies (pertaining to physical stabilization and response to predation) displayed by the two isognomonid species are considered in the light of the ecological speciation theory. PMID:27394812

  3. Pathologic Outcomes following Urethral Diverticulectomy in Women

    PubMed Central

    Laudano, Melissa A.; Jamzadeh, Asha E.; Lee, Richard K.; Robinson, Brian D.; Tyagi, Renuka; Kaplan, Steven A.; Te, Alexis E.

    2014-01-01

    Purpose. Although most urethral diverticula in women are benign, there is a subset of patients who develop malignant changes. Limited studies report the pathologic findings associated with this relatively rare entity. We describe the clinicopathologic findings of women who underwent urethral diverticulectomy. Methods. A consecutive series of 29 women who underwent surgical resection of a urethral diverticulum were identified between 1992 and 2013. Clinical and radiographic data was collected by retrospective review of patient medical records. All pathological slides were rereviewed by a single urologic pathologist. Results. Of the 14 women with clinical data, 9 (64%) presented with urgency, 7 (50%) with urinary frequency, 3 (21%) with urinary incontinence, and 3 (21%) with dysuria. Mean diverticular size was 2.3 (±1.4) cm. Although one patient (3%) had invasive adenocarcinoma on final pathology, the remaining 28 cases (97%) demonstrated benign features. The most common findings were inflammation (55%) and nephrogenic adenoma (21%). Conclusions. Although most urethral diverticula in women are benign, there is a subset of patients who develop malignancy in association with the diverticulum. In this series, 97% of cases had a benign histology. These findings are important when counseling patients regarding treatment options. PMID:24860605

  4. Risk Factors for Recurrence of Symptomatic Common Bile Duct Stones after Cholecystectomy

    PubMed Central

    Oak, Ju Hyun; Paik, Chang Nyol; Chung, Woo Chul; Lee, Kang-Moon; Yang, Jin Mo

    2012-01-01

    Purpose. The recurrence of CBD stone is still observed in a considerable number of patients. The study was to evaluate the risk factors for recurrence of symptomatic CBD stone in patients who underwent cholecystectomy after the removal of CBD stone. Methods. The medical records of patients who underwent removal of CBD stone with subsequent cholecystectomy were reviewed. The risk factors for the recurrence of symptomatic CBD stone were compared between the recurrence and the nonrecurrence group. Results. The mean follow-up period was 40.6 months. The recurrence of symptomatic CBD stones was defined as the detection of bile duct stones no sooner than 6 months after complete clearance of CBD stones, based on symptoms or signs of biliary complication. 144 patients (68 males, 47.2%) were finally enrolled and their mean age was 59.8 (range: 26~86) years. The recurrence of CBD stone occurred in 15 patients (10.4%). The mean period until first recurrence was 25.9 months. The presence of type 1 or 2 periampullary diverticulum and multiple CBD stones were the independent risk factors. Conclusion. For the patients with type 1 or 2 periampullary diverticulum or multiple CBD stones, careful followup is needed for the risk in recurrence of symptomatic CBD stone. PMID:22991508

  5. Left ventricular apical hypoplasia: Case report on cardiomyopathy and a history of sudden cardiac death

    PubMed Central

    Alizadeh Sani, Zahra; Vojdanparast, Mohammad; Rezaeian, Nahid; Seifi, Azin; Omidvar Tehrani, Sahar; Nezafati, Pouya

    2016-01-01

    BACKGROUND Isolated left ventricular apical hypoplasia with several different unrecognized dimensions is a newly discovered congenital anomaly of the heart. CASE REPORT In this report, we describe a case of cardiomyopathy of this type occurring in a 13-year-old male with a history of mental retardation and sudden cardiac death (SCD) of second-degree relatives. The patient was referred for an evaluation of cardiac status. An echocardiography analysis demonstrated a spherical left ventricle (LV) appearance with mild mitral regurgitation. Cardiac magnetic resonance imaging (MRI) confirmed a spherical and truncated LV appearance. The right ventricle was found to have elongated and wrapped around the LV, and diverticulum was also seen in the cardiac MRI. CONCLUSION To the best of our knowledge, this is to present the first case of LV apical hypoplasia combined with LV diverticulum and a family history of SCD. As more cases featuring this cardiomyopathy type are recognized, it will be easier to elucidate the natural history and management of such cardiac anomalies. PMID:27114737

  6. Changes in the reproductive system of the snail Helix aspersa caused by mucus from the love dart.

    PubMed

    Koene, J M; Chase, R

    1998-08-01

    The function of the love dart in certain species of terrestrial snails is unknown. In Helix aspersa, the dart is a sharp calcareous structure that is used to pierce the partner's skin during courtship. When expelled, the dart is covered with a thick mucus. The hypothesis tested here is that the mucus contains a biologically active substance. Extracts of the digitiform glands that produce this mucus were applied to parts of the reproductive system in vitro. The extracts triggered an initial reconfiguration of the copulatory canal that caused the bursa tract diverticulum to become more accessible to the spermatophore. The reconfiguration of the copulatory canal also closed off the tract leading to the bursa copulatrix, a sperm-digesting organ. A few minutes after the initial contraction, the peristaltic contractions in the diverticulum became significantly more frequent. This latter effect continued for at least 1 h, provided that the mucus extract remained in the saline bath. The minimum effective dosage was less than the 2.2 mg of mucus transferred with the dart. Sperm competition is expected in Helix aspersa since multiple matings occur before eggs are laid. By influencing the female organs involved in the processing of foreign sperm, the dart shooter may increase the chance that his sperm will fertilise eggs. PMID:9662502

  7. [Acute diverticulitis of the cecum].

    PubMed

    Mandarano, R; Ciccone, A; Sereni, P; Venturini, N

    1994-06-01

    Following a brief introduction regarding the epidemiology of diverticular disease, the authors report a rare case of diverticulitis of the cecum which had developed into an abscess. The patient was a 37-year-old man who was referred to the authors' attention with classic symptoms of acute appendicitis and it was therefore decided to operate. During laparotomy a small paracecal abscess involving a diverticulum with suppurating infection was found on the anterior wall of the cecum, whereas the appendix appeared to be completely unaffected. The diverticulum was removed together with a small area of the surrounding healthy tissue using a double-layer suture of the cecal wall. In the discussion the authors analyse the similarities and rarities of the case and compare it with national and international findings. Special attention is drawn to the problems of differential diagnosis raised by this rare pathology. In conclusion, the authors state that it is difficult to make a preoperative diagnosis and that therefore the decision to operate must be extemporary. PMID:7970067

  8. Reflecting optics in the diverticular eye of a deep-sea barreleye fish (Rhynchohyalus natalensis)

    PubMed Central

    Partridge, J. C.; Douglas, R. H.; Marshall, N. J.; Chung, W.-S.; Jordan, T. M.; Wagner, H.-J.

    2014-01-01

    We describe the bi-directed eyes of a mesopelagic teleost fish, Rhynchohyalus natalensis, that possesses an extensive lateral diverticulum to each tubular eye. Each diverticulum contains a mirror that focuses light from the ventro-lateral visual field. This species can thereby visualize both downwelling sunlight and bioluminescence over a wide field of view. Modelling shows that the mirror is very likely to be capable of producing a bright, well focused image. After Dolichopteryx longipes, this is only the second description of an eye in a vertebrate having both reflective and refractive optics. Although superficially similar, the optics of the diverticular eyes of these two species of fish differ in some important respects. Firstly, the reflective crystals in the D. longipes mirror are derived from a tapetum within the retinal pigment epithelium, whereas in R. natalensis they develop from the choroidal argentea. Secondly, in D. longipes the angle of the reflective crystals varies depending on their position within the mirror, forming a Fresnel-type reflector, but in R. natalensis the crystals are orientated almost parallel to the mirror's surface and image formation is dependent on the gross morphology of the diverticular mirror. Two remarkably different developmental solutions have thus evolved in these two closely related species of opisthoproctid teleosts to extend the restricted visual field of a tubular eye and provide a well-focused image with reflective optics. PMID:24648222

  9. Reflecting optics in the diverticular eye of a deep-sea barreleye fish (Rhynchohyalus natalensis).

    PubMed

    Partridge, J C; Douglas, R H; Marshall, N J; Chung, W-S; Jordan, T M; Wagner, H-J

    2014-05-01

    We describe the bi-directed eyes of a mesopelagic teleost fish, Rhynchohyalus natalensis, that possesses an extensive lateral diverticulum to each tubular eye. Each diverticulum contains a mirror that focuses light from the ventro-lateral visual field. This species can thereby visualize both downwelling sunlight and bioluminescence over a wide field of view. Modelling shows that the mirror is very likely to be capable of producing a bright, well focused image. After Dolichopteryx longipes, this is only the second description of an eye in a vertebrate having both reflective and refractive optics. Although superficially similar, the optics of the diverticular eyes of these two species of fish differ in some important respects. Firstly, the reflective crystals in the D. longipes mirror are derived from a tapetum within the retinal pigment epithelium, whereas in R. natalensis they develop from the choroidal argentea. Secondly, in D. longipes the angle of the reflective crystals varies depending on their position within the mirror, forming a Fresnel-type reflector, but in R. natalensis the crystals are orientated almost parallel to the mirror's surface and image formation is dependent on the gross morphology of the diverticular mirror. Two remarkably different developmental solutions have thus evolved in these two closely related species of opisthoproctid teleosts to extend the restricted visual field of a tubular eye and provide a well-focused image with reflective optics. PMID:24648222

  10. Endoscopic band ligation for bleeding lesions in the small bowel

    PubMed Central

    Ikeya, Takashi; Ishii, Naoki; Shimamura, Yuto; Nakano, Kaoru; Ego, Mai; Nakamura, Kenji; Takagi, Koichi; Fukuda, Katsuyuki; Fujita, Yoshiyuki

    2014-01-01

    AIM: To investigate the safety and efficacy of endoscopic band ligation (EBL) for bleeding lesions in the small bowel. METHODS: This is a retrospective study evaluating EBL in six consecutive patients (three males, three females, 46-86 years of age) treated between May 2009 and February 2014: duodenal vascular ectasia; 1, jejunal bleeding diverticulum; 1, ileal Dieulafoy’s lesion; 1 and ileal bleeding diverticula; 3. The success of the initial hemostasis was evaluated, and patients were observed for early rebleeding (within 30 d after EBL), and complications such as perforation and abscess formation. Follow-up endoscopies were performed in four patients. RESULTS: Initial hemostasis was successfully achieved with EBL in all six patients. Eversion was not sufficient in four diverticular lesions. Early rebleeding occurred three days after EBL in one ileal diverticulum, and a repeat endoscopy revealed dislodgement of the O-band and ulcer formation at the banded site. This rebleeding was managed conservatively. Late rebleeding occurred in this case (13 and 21 mo after initial EBL), and re-EBL was performed. Follow-up endoscopies revealed scar formation and the disappearance of vascular lesions at the banded site in the case with a duodenal bleeding lesion, and unresolved ileal diverticula in three cases. Surgery or transarterial embolization was not required without any complications during the median follow-up period of 45 (range, 2-83) mo. CONCLUSION: EBL is a safe and effective endoscopic treatment for hemostasis of bleeding lesions in the small bowel. PMID:25324920

  11. Solitary caecum diverticulitis mimicking acute appendicitis.

    PubMed

    Hot, Semih; Eğin, Seracettin; Gökçek, Berk; Yeşiltaş, Metin; Alemdar, Ali; Akan, Arzu; Karahan, Servet Rüştü

    2015-12-01

    Solitary cecum diverticulum is a benign formation, but it can be complicated with inflammation, perforation and bleeding. Cecum diverticulitis (CD) is the most common complication of caecal diverticulum and it has the highest incidence among Asians, but it is a rare condition in the western world. The incidence of colonic diverticular disease can vary according to national origin, cultural structure and nutritional habits. CD is not common in our country, but it is an important situation because of its clinical similarity with the commonly seen acute right side abdominal diseases like acute appendicitis. Preoperative diagnosis is difficult, and hence, the actual frequency is not known. The treatment of CD can vary from medical therapy to right hemi colectomy. In this study, we presented ten CD cases on whom surgical resection was performed in our surgery unit during the last 8 years. Our purpose was to increase the awareness of surgeons about this situation, and so, make them pay attention for not having their first experience in the operating room. PMID:27054646

  12. Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT).

    PubMed

    Rodriguez, Maria M

    2014-01-01

    This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology describing and illustrating lesions as varied as ureteral duplications, ureteropelvic junction obstruction, horseshoe kidney, posterior urethral valve and prune belly syndrome, obstructive renal dysplasia, nonmotile ciliopathies and several syndromes associated with renal malformations (Meckel-Joubert, short rib, Bardet-Biedl, asplenia/polysplenia, hereditary renal adysplasia, Zellweger, trisomies, VACTER-L, Potter, caudal dysplasia, and sirenomelia), as well as ADPK, and ARPK. The purpose of this review is not only to describe the congenital renal anomalies, but also to analyze the more recent therapeutic interventions that may modify the natural history of some of these severe conditions. PMID:25313840

  13. Importance of Heparin Provocation and SPECT/CT in Detecting Obscure Gastrointestinal Bleeding on 99mTc-RBC Scintigraphy

    PubMed Central

    Haghighatafshar, Mahdi; Gheisari, Farshid; Ghaedian, Tahereh

    2015-01-01

    Abstract We presented a pediatric case with a history of intermittent melena for 3 years because of angiodyplasia of small intestine. The results of frequent upper gastrointestinal endoscopies and colonoscopies as well as both 99mTc-red blood cell (RBC) and Meckel's scintigraphies for several times were negative in detection of bleeding site. However, 99mTc-RBC scintigraphy with single-photon emission computed tomography (SPECT)/computed tomography (CT) after heparin augmentation detected a site of bleeding in the distal ileum which later was confirmed during surgery with final diagnosis of angiodysplasia. It could be stated that heparin provocation of bleeding before 99mTc-RBC scintigraphy accompanied by fused SPECT/CT images should be kept in mind for management of intestinal bleeding especially in difficult cases. PMID:26313771

  14. MRI of brucella polyneuritis in a child.

    PubMed

    Tali, E T; Keskin, T; Oznur, I I; Simonson, T; Yuh, W T

    1996-05-01

    MRI of a rare case of polyneuritis following brucellosis is presented. An 8-year-old boy with a history of brucellosis showed marked enlargement of the origin of the left fifth cranial nerve and contrast enhancement of the fifth cranial nerves and the Gasserian ganglion in Meckel's caves. A well-defined low-signal cystic mass showing peripheral contrast enhancement lay anteromedial to the left seventh and eighth cranial nerves. The seventh and eighth nerves showed marked enhancement. The prechiasmatic portion of the right optic nerve showed fusiform enlargement with marked contrast enhancement of the nerve and right optic tract. MRI immediately after treatment showed no enhancement of the cranial nerves. Enlargement of the origin of the left fifth cranial nerve persisted, but there was no enlargement of the optic nerve. The mass near the left seventh and eighth cranial nerves was still present with no obvious morphological change, but no longer showed peripheral enhancement. PMID:8811713

  15. Fetus-in-fetu: a pediatric rarity

    PubMed Central

    Narayanasamy, Jeyanthi N.; Nallusamy, Mohan Arunasalam; Baharuddin, Nur Daliza

    2014-01-01

    Fetus-in-fetu (FIF) is a rare entity resulting from abnormal embryogenesis in diamniotic monochorionic twins, being first described by Johann Friedrich Meckel (1800s). This occurs when a vertebrate fetus is enclosed in a normally growing fetus. Clinical manifestations vary. Detection is most often in infancy, the oldest reported age being 47. We report the case of a 4-day-old girl who was referred postnatally following a prenatal fetal scan which had revealed the presence of a multi-loculated retroperitoneal mass lesion with calcifications within. A provisional radiological diagnosis of FIF was made. Elective laparotomy revealed a well encapsulated retroperitoneal mass containing among other structures a skull vault and rudimentary limb buds. Recovery was uneventful. Here we discuss the difference between FIF and teratomas, risks of non-operative therapy and the role of serology in surveillance and detection of malignant change. PMID:24876368

  16. Cilium transition zone proteome reveals compartmentalization and differential dynamics of ciliopathy complexes.

    PubMed

    Dean, Samuel; Moreira-Leite, Flavia; Varga, Vladimir; Gull, Keith

    2016-08-30

    The transition zone (TZ) of eukaryotic cilia and flagella is a structural intermediate between the basal body and the axoneme that regulates ciliary traffic. Mutations in genes encoding TZ proteins (TZPs) cause human inherited diseases (ciliopathies). Here, we use the trypanosome to identify TZ components and localize them to TZ subdomains, showing that the Bardet-Biedl syndrome complex (BBSome) is more distal in the TZ than the Meckel syndrome (MKS) complex. Several of the TZPs identified here have human orthologs. Functional analysis shows essential roles for TZPs in motility, in building the axoneme central pair apparatus and in flagellum biogenesis. Analysis using RNAi and HaloTag fusion protein approaches reveals that most TZPs (including the MKS ciliopathy complex) show long-term stable association with the TZ, whereas the BBSome is dynamic. We propose that some Bardet-Biedl syndrome and MKS pleiotropy may be caused by mutations that impact TZP complex dynamics. PMID:27519801

  17. Accessory liver lobe of the gallbladder in adults.

    PubMed

    Handra-Luca, Adriana

    2016-09-01

    The accessory liver lobe (ALL) of the gallbladder wall is rare, mentioned by Meckel since 1822. We present two cases of ALL occurring in two adult women. The ALLs were diagnosed at microscopic examination of cholecystectomy specimens for lithiasic cholecystitis and were located at the gallbladder body level. They measured 0.5 and 1.1 cm and were pediculated from the gallbladder serosa. Luschka duct complexes were seen in the adjacent subserosa in one of the cases. The main clinical relevance of ALL of the gallbladder resides in the differential diagnosis with a lymph node and in the risk of peroperative hemorragia or bile leakage by sectioning of the connecting blood vessels and/or bile duct. Intraparietal ALL may interfere with dysmotility, possibly resulting in bile stagnation and stone formation. PMID:27147442

  18. Visual diagnosis: 12-year-old girl with constipation and rectal bleeding.

    PubMed

    Srinath, Arvind; Wendel, Danielle; Bond, Geoffrey; Lowe, Mark

    2014-02-01

    Rectal duplication cysts are rare, thought to be due to defects in embryologic development, and often associated with other structural abnormalities. Clues to the existence of a rectal cyst are mainly due to bowel compression and presence of ectopic gastric mucosa within the cyst, leading to rectal bleeding. The diagnosis of a rectal duplication cyst requires a high index of suspicion. Confirming the diagnosis can be difficult based on the location of the cyst. Efforts to confirm the diagnosis include digital rectal examination, computed tomography, magnetic resonance imaging, ultrasonography, and Meckel scan. Surgical resection is the treatment of choice, especially because of the cyst’s potential for malignant transformation. Because of the cyst’s proximal location to the nerves innervating the anal canal and sphincters, surgical resection can lead to fecal incontinence. PMID:24488834

  19. CT and angiography of primary extradural juxtasellar tumors

    SciTech Connect

    Moore, T.; Ganti, S.R.; Mawad, M.E.; Hilal, S.K.

    1985-09-01

    The computed tomographic and angiographic features of 15 histologically proven primary extradural juxtasellar tumors were retrospectively reviewed. Five chordomas were characterized by prominent bone erosion and a significant posterior fossa component. Four trigeminal nerve neuromas each demonstrated bone erosion centered about Meckel's cave and moderate to marked contrast enhancement. Two cavernous sinus meningiomas revealed moderate contrast enhancement, expansion of the cavernous sinus, and moderate angiographic stain. Two cavernous hemangiomas of the cavernous sinus were intensely enhancing and demonstrated angiographic stain. Opacification of the sphenoid sinus with prominent bone destruction and lack of contrast enhancement was characteristic of a sphenoid sinus mucocele. The dural reflection could be directly visualized or indirectly inferred in each case.

  20. Metastatic Renal Cell Carcinoma Mimicking Trigeminal Schwannoma in a Patient Presenting with Trigeminal Neuralgia

    PubMed Central

    Wang, Arthur; Kleinman, George; Murali, Raj; Wainwright, John; Tandon, Adesh

    2015-01-01

    We present an unusual case of a metastatic renal cell carcinoma (RCC) mimicking trigeminal schwannoma. The patient, with no prior history of RCC, presented with clinical symptoms and imaging consistent with trigeminal neuralgia secondary to trigeminal schwannoma. Magnetic resonance imaging of the brain showed a large bilobed cystic/solid mass primarily in the cerebellopontine angle cistern, with extension into the left middle cranial fossa, Meckel cave, and left cavernous sinus. Following surgical excision, histopathology revealed the tumor to be an RCC infiltrating into the trigeminal nerve fascicles. Further imaging and investigation revealed widespread metastasis to the vertebral bodies and long bones. Metastatic RCC to the trigeminal nerve is rare. Despite the development of more effective treatment modalities, the prognosis of metastatic RCC remains poor. To our knowledge, this is the first reported case of RCC metastasizing to the trigeminal nerve fascicles. PMID:26623243

  1. Intussusceptions as acute abdomen caused by Burkitt lymphoma: a case report

    PubMed Central

    2009-01-01

    Introduction Burkitt's lymphoma is a highly malignant, aggressive and rapidly growing B-cell neoplasm, which has low long-term survival rates. The abdomen is the most frequent onset site of non endemic Burkitt's lymphoma. Symptoms are often misleading and make diagnosis difficult. Ileum intussusception as acute abdomen caused by Burkitt lymphoma is rare. Case presentation We are presenting a case of a 16 year-old male with acute abdomen, which three weeks prior initially has been surgically treated for acute appendicitis and Meckel diverticulitis. Following this was a second urgent operation of ileoileal intusussception caused by Burkitt lymphoma. Right extended haemicolectomy was performed. Conclusion Affected terminal ileum by Burkitt's lymphoma may mimic clinically acute appendicitis and investigation tools sometimes may not provide proper diagnosis. Complete resection results in improved survival. PMID:20062585

  2. Central nervous system lymphoma presenting as trigeminal neuralgia: A diagnostic challenge.

    PubMed

    Ang, Jensen W J; Khanna, Arjun; Walcott, Brian P; Kahle, Kristopher T; Eskandar, Emad N

    2015-07-01

    We describe an atypical man with diffuse large B cell lymphoma localized to the sphenoid wing and adjacent cavernous sinus, initially presenting with isolated ipsilateral facial pain mimicking trigeminal neuralgia due to invasion of Meckel's cave but subsequently progressing to intra-axial extension and having synchronous features of systemic lymphoma. Primary central nervous system lymphoma is uncommon, accounting for approximately 2% of all primary intracranial tumors, but its incidence has been steadily increasing in some groups [1]. It usually arises in the periventricular cerebral white matter, and reports of lymphoma in extra-axial regions are rare [2]. This man highlights the importance of maintaining lymphoma in the differential diagnosis of tumors of the skull base presenting with trigeminal neuralgia-like symptoms. PMID:25865026

  3. Transferrin receptor facilitates TGF-β and BMP signaling activation to control craniofacial morphogenesis.

    PubMed

    Lei, R; Zhang, K; Liu, K; Shao, X; Ding, Z; Wang, F; Hong, Y; Zhu, M; Li, H; Li, H

    2016-01-01

    The Pierre Robin Sequence (PRS), consisting of cleft palate, glossoptosis and micrognathia, is a common human birth defect. However, how this abnormality occurs remains largely unknown. Here we report that neural crest cell (NCC)-specific knockout of transferrin receptor (Tfrc), a well known transferrin transporter protein, caused micrognathia, cleft palate, severe respiratory distress and inability to suckle in mice, which highly resemble human PRS. Histological and anatomical analysis revealed that the cleft palate is due to the failure of palatal shelves elevation that resulted from a retarded extension of Meckel's cartilage. Interestingly, Tfrc deletion dramatically suppressed both transforming growth factor-β (TGF-β) and bone morphogenetic protein (BMP) signaling in cranial NCCs-derived mandibular tissues, suggesting that Tfrc may act as a facilitator of these two signaling pathways during craniofacial morphogenesis. Together, our study uncovers an unknown function of Tfrc in craniofacial development and provides novel insight into the etiology of PRS. PMID:27362800

  4. Metastatic Renal Cell Carcinoma Mimicking Trigeminal Schwannoma in a Patient Presenting with Trigeminal Neuralgia.

    PubMed

    Wang, Arthur; Kleinman, George; Murali, Raj; Wainwright, John; Tandon, Adesh

    2015-11-01

    We present an unusual case of a metastatic renal cell carcinoma (RCC) mimicking trigeminal schwannoma. The patient, with no prior history of RCC, presented with clinical symptoms and imaging consistent with trigeminal neuralgia secondary to trigeminal schwannoma. Magnetic resonance imaging of the brain showed a large bilobed cystic/solid mass primarily in the cerebellopontine angle cistern, with extension into the left middle cranial fossa, Meckel cave, and left cavernous sinus. Following surgical excision, histopathology revealed the tumor to be an RCC infiltrating into the trigeminal nerve fascicles. Further imaging and investigation revealed widespread metastasis to the vertebral bodies and long bones. Metastatic RCC to the trigeminal nerve is rare. Despite the development of more effective treatment modalities, the prognosis of metastatic RCC remains poor. To our knowledge, this is the first reported case of RCC metastasizing to the trigeminal nerve fascicles. PMID:26623243

  5. Fuz Regulates Craniofacial Development through Tissue Specific Responses to Signaling Factors

    PubMed Central

    Zhang, Zichao; Wlodarczyk, Bogdan J.; Niederreither, Karen; Venugopalan, Shankar; Florez, Sergio; Finnell, Richard H.; Amendt, Brad A.

    2011-01-01

    The planar cell polarity effector gene Fuz regulates ciliogenesis and Fuz loss of function studies reveal an array of embryonic phenotypes. However, cilia defects can affect many signaling pathways and, in humans, cilia defects underlie several craniofacial anomalies. To address this, we analyzed the craniofacial phenotype and signaling responses of the Fuz−/− mice. We demonstrate a unique role for Fuz in regulating both Hedgehog (Hh) and Wnt/β-catenin signaling during craniofacial development. Fuz expression first appears in the dorsal tissues and later in ventral tissues and craniofacial regions during embryonic development coincident with cilia development. The Fuz−/− mice exhibit severe craniofacial deformities including anophthalmia, agenesis of the tongue and incisors, a hypoplastic mandible, cleft palate, ossification/skeletal defects and hyperplastic malformed Meckel's cartilage. Hh signaling is down-regulated in the Fuz null mice, while canonical Wnt signaling is up-regulated revealing the antagonistic relationship of these two pathways. Meckel's cartilage is expanded in the Fuz−/− mice due to increased cell proliferation associated with the up-regulation of Wnt canonical target genes and decreased non-canonical pathway genes. Interestingly, cilia development was decreased in the mandible mesenchyme of Fuz null mice, suggesting that cilia may antagonize Wnt signaling in this tissue. Furthermore, expression of Fuz decreased expression of Wnt pathway genes as well as a Wnt-dependent reporter. Finally, chromatin IP experiments demonstrate that β-catenin/TCF-binding directly regulates Fuz expression. These data demonstrate a new model for coordination of Hh and Wnt signaling and reveal a Fuz-dependent negative feedback loop controlling Wnt/β-catenin signaling. PMID:21935430

  6. Tectonic gene mutations in patients with Joubert syndrome.

    PubMed

    Huppke, Peter; Wegener, Eike; Böhrer-Rabel, Helena; Bolz, Hanno J; Zoll, Barbara; Gärtner, Jutta; Bergmann, Carsten

    2015-05-01

    So far very few patients with sequence variants in the closely related tectonic genes TCTN1-3 have been described. By multi-gene panel next-generation sequencing (NGS) in patients with Joubert syndrome, we identified two more patients and summarize what is currently known about the phenotypes associated with sequence variants in these genes. In a boy aged 12 years with intellectual disability and the classical molar tooth sign on MRI, a homozygous splice-site sequence variant in TCTN3 leading to in-frame skipping of exon 7 was detected. A previously described non-truncating sequence variant in TCTN3 was also associated with Joubert syndrome, whereas four truncating sequence variants were detected in patients with Meckel-Gruber or Mohr-Majewski syndrome. The second patient, a boy aged 7 years with severe psychomotor retardation, was found to carry a homozygous canonic splice-site sequence variant in TCTN2. So far, only three sequence variants associated with Joubert syndrome and two with Meckel-Gruber syndrome have been described in this gene. Reviewing the clinical data on patients with sequence variants in the tectonic genes TCTN1-3 reveals that all of them have a neurological phenotype with vermis hypoplasia or occipital encephalocele associated with severe intellectual disability in the surviving patients. In contrast, other features frequently seen in patients with ciliopathies such as nephronophthisis, liver fibrosis, retinal dystrophy or coloboma have not been reported. Our patients emphasize the usefulness and efficacy of a comprehensive NGS panel approach. A concise genetic diagnosis may help to prevent unnecessary investigations and improve the clinical management of these patients. PMID:25118024

  7. Comparison of conventional and skull base surgical approaches for the excision of trigeminal neurinomas.

    PubMed

    Taha, J M; Tew, J M; van Loveren, H R; Keller, J T; el-Kalliny, M

    1995-05-01

    Trigeminal neurinomas have traditionally been excised through conventional approaches. Because symptomatic tumor recurrence exceeds 50% after conventional procedures, the authors evaluated the use of skull base approaches to achieve complete resection and a lower rate of symptomatic recurrence. Comparisons of skull base with conventional approaches to trigeminal neurinomas have been limited to small series with short-term follow-up periods. The authors reviewed their experiences with conventional (frontotemporal transsylvian, subtemporal-intradural, subtemporal-transtentorial, and suboccipital) and skull base (frontotemporal extradural-intradural, frontoorbitozygomatic, subtemporal anterior petrosal, and presigmoid posterior petrosal) surgical approaches for the excision of trigeminal neurinomas. In this paper they report the results of 15 patients with trigeminal neurinoma who underwent 27 surgical procedures between 1980 and 1990. Seventeen of the procedures used conventional and 10 used skull base approaches. All patients had tumors arising from Meckel's cave and the porus trigeminus either initially or on recurrence. Tumors located in the cavernous sinus recurred most frequently (83%); other tumors that recurred frequently were those located in Meckel's cave and the porus trigeminus (67%), and the posterior fossa (17%). The tumor extended into the anterolateral wall of the cavernous sinus in 38% of patients with cavernous sinus involvement. Tumor exposure and ease of dissection were superior with skull base approaches. Residual or recurrent tumors were found in 65% of patients following conventional approaches compared with 10% of patients following skull base approaches. Using skull base approaches, the surgeon was more accurate (90%) in estimating tumor excision than when using conventional approaches (43%). Perioperative complications were similar with both. The authors discuss the indications, advantages, and limitations of each approach. Based on

  8. Dislocated Tongue Muscle Attachment and Cleft Palate Formation.

    PubMed

    Kouskoura, T; El Fersioui, Y; Angelini, M; Graf, D; Katsaros, C; Chiquet, M

    2016-04-01

    In Pierre Robin sequence, a retracted tongue due to micrognathia is thought to physically obstruct palatal shelf elevation and thereby cause cleft palate. However, micrognathia is not always associated with palatal clefting. Here, by using the Bmp7-null mouse model presenting with cleft palate and severe micrognathia, we provide the first causative mechanism linking the two. In wild-type embryos, the genioglossus muscle, which mediates tongue protrusion, originates from the rostral process of Meckel's cartilage and later from the mandibular symphysis, with 2 tendons positive for Scleraxis messenger RNA. In E13.5 Bmp7-null embryos, a rostral process failed to form, and a mandibular symphysis was absent at E17.5. Consequently, the genioglossus muscle fibers were diverted toward the lingual surface of Meckel's cartilage and mandibles, where they attached in an aponeurosis that ectopically expressed Scleraxis. The deflection of genioglossus fibers from the anterior-posterior toward the medial-lateral axis alters their direction of contraction and necessarily compromises tongue protrusion. Since this muscle abnormality precedes palatal shelf elevation, it is likely to contribute to clefting. In contrast, embryos with a cranial mesenchyme-specific deletion of Bmp7 (Bmp7:Wnt1-Cre) exhibited some degree of micrognathia but no cleft palate. In these embryos, a rostral process was present, indicating that mesenchyme-derived Bmp7 is dispensable for its formation. Moreover, the genioglossus appeared normal in Bmp7:Wnt1-Cre embryos, further supporting a role of aberrant tongue muscle attachment in palatal clefting. We thus propose that in Pierre Robin sequence, palatal shelf elevation is not impaired simply by physical obstruction by the tongue but by a specific developmental defect that leads to functional changes in tongue movements. PMID:26701347

  9. Retrospective Analysis of Ultrasound-guided Flexible Ureteroscopy in the Management of Calyceal Diverticular Calculi

    PubMed Central

    Zhang, Ji-Qing; Wang, Yong; Zhang, Jun-Hui; Zhang, Xiao-Dong; Xing, Nian-Zeng

    2016-01-01

    Background: Percutaneous nephrolithotomy (PCNL) is the most widely recommended treatment for calyceal diverticular calculi, providing excellent stone-free results. However, its invasiveness is not negligible considering its major complication rates. Flexible ureteroscopy (FURS) is currently used to treat calyceal diverticula. However, the greatest drawback of FURS is locating the diverticulum since its neck is narrow and concealed. In such a case, the FURS procedure must be converted to PCNL. The aim of this study was to evaluate ultrasound-guided flexible ureteroscopy (UFURS) identifying diverticulum and the management of calyceal diverticular calculi. Methods: A retrospective analysis was conducted on 24 patients who had calyceal diverticular calculi. In all 12 patients in the UFURS group, direct FURS failed to find evidence of calyceal diverticula but were confirmed with imaging. The other 12 patients in the PCNL group received PCNL plus fulguration of the diverticular walls. Results: Puncture of calyceal diverticulum was successful in all 12 UFURS patients. Two patients in this group had postoperative residual calculi and two patients developed fever. In the PCNL group, percutaneous renal access and lithotomy were successful in all 12 patients. One patient in this group had residual calculi, one had perirenal hematoma, and two patients developed fever. No significant difference was found in the operating time (UFURS vs. PCNL, 91.8 ± 24.2 vs. 86.3 ± 18.7 min), stone-free rate (UFURS vs. PCNL, 9/12 vs. 10/12), and rate of successful lithotripsy (UFURS vs. PCNL, 10/12 vs. 11/12) between the two groups (all P > 0.05). Postoperative pain scores in the FURS group were significantly lower than that in the PCNL group (2.7 ± 1.2 vs. 6.2 ± 1.5, P < 0.05). Hospital stay in the UFURS group was significantly shorter than that in the PCNL group (3.4 ± 0.8 vs. 5.4 ± 1.0 days, P < 0.05). All patients were symptom-free following surgery (UFURS vs. PCNL, 10/10 vs. 12

  10. Anterior urethral valves without diverticulae: a report of two cases and a review of the literature.

    PubMed

    Singh, Dig Vijay; Taneja, Rajesh

    2014-05-01

    Two unusual cases of anterior urethral valves (AUV) without diverticulae are presented. The first case is a male child born with prenatal diagnosis of bilateral hydronephrosis. On cystoscopy, iris-like diaphragm valves were encountered about 3 mm distal to the skeletal sphincter. In the second case, an 18-month-old male child was investigated for recurrent febrile urinary tract infections and obstructed urinary symptoms. Cystoscopy confirmed the presence of slit-like valves 5 mm distal to the skeletal sphincter. Fulguration of the AUVs was performed in both cases. It may be worthwhile to review all cases of anterior urethral obstruction collectively and re-categorize them appropriately to include the unusual AUVs without diverticulum in that classification. PMID:24118555

  11. Patent ductus arteriosus and pulmonary hypertension in related Pembroke Welsh corgis.

    PubMed

    Oswald, G P; Orton, E C

    1993-03-01

    Patent ductus arteriosus (PDA) and pulmonary hypertension were diagnosed in 5 related 12- to 24-week-old Pembroke Welsh Corgi dogs. A ductus diverticulum and small PDA were diagnosed in the pups' sire. Multiple factors likely contribute to the early development of pulmonary hypertension, including pulmonary hyperperfusion, genetic predisposition, and atmospheric pressure. The dogs of this report had a strong genetic predisposition to PDA, had large-diameter PDA associated with pulmonary hyperperfusion, and lived at altitudes of 5,000 to 7,000 feet above sea level. This combination of factors likely had an additive influence on the pulmonary vasculature, resulting in accelerated development of pulmonary hypertension in these dogs. Early recognition and treatment of PDA is critical in this setting before the development of severe pulmonary hypertension and uncorrectable disease. PMID:8454510

  12. Primary sclerosing cholongitis: findings on cholangiography and pancreatography

    SciTech Connect

    MacCarty, R.L.; LaRusso, N.F.; Wiesner, R.H.; Ludwig, J.

    1983-10-01

    Cholangiograms of 86 patients with primary sclerosing cholangitis (PSC) were compared with those of 82 patients with primary bile duct carcinoma and 16 with primary biliary cirrhosis. Multifocal strictures involving both intra- and extra-hepatic bile ducts were most common in PSC; they were diffusely distributed, short, and annular, alternating with normal or slightly dilated segments to product a beaded appearance. Very short, band-like strictures occurred in 18 patients; 9 also had diverticulum-like outpouchings. Fourteen patients had diverticula without band strictures. Both findings appear to be specific for PSC. Inflammatory bowel disease was seen in 57 patients (66%), who could not be distinguished cholangiographically from other PSC patients. Of 40 patients with adequate retrograde pancreatograms, 3 had abnormalities of the pancreatic ducts.

  13. Complicated bile duct stones.

    PubMed

    Roy, Ashwin; Martin, Derrick

    2013-01-01

    Common bile duct stones (CBDSs) are solid deposits that can either form within the gallbladder or migrate to the common bile duct (CBD), or form de novo in the biliary tree. In the USA around 15% of the population have gallstones and of these, 3% present with symptoms annually. Because of this, there have been major advancements in the management of gallstones and related conditions. Management is based on the patient's risk profile; young and healthy patients are likely to be recommended for surgery and elderly patients with comorbidities are usually recommended for endoscopic procedures. Imaging of gallstones has advanced in the last 30 years with endoscopic retrograde cholangiopancreatography evolving from a diagnostic to a therapeutic procedure in removing CBDSs. We present a complicated case of a patient with a CBDS and periampullary diverticulum and discuss the techniques used to diagnose and remove the stone from the biliary system. PMID:23946532

  14. Identification of the motor laryngeal nerves - a new electrical stimulation technique.

    PubMed

    Spahn, J G; Bizal, J; Ferguson, S; Lingeman, R E

    1981-11-01

    Head and neck surgeons are familiar with the technique of identifying motor nerves in the head and neck region by using electrical stimulation especially in the identification of the facial and the spinal accessory nerves. The identification of the motor laryngeal nerves by electrical stimulation intra-operatively has been described; but, the difficulty of visualization of intrinsic laryngeal muscle movement has prevented the wide spread use of this technique. This paper will introduce a simple, safe and reliable method to allow the surgeon to recognize true vocal cord movement while stimulating the recurrent laryngeal nerve. The movement of a two inch 27 gauge needle placed through the cricothyroid membrane into the ipsilateral true vocal cord permits identification of intrinsic laryngeal muscle movement during electrical stimulation of the recurrent laryngeal nerve. This method has been successfully used in confirming conductivity of the laryngeal nerve during thyroid surgery, Zenker's diverticulum surgery, cricotracheal trauma and recurrent nerve neurectomy for spasmodic dysphonia. PMID:7300536

  15. Barium impaction therapy with balloon occlusion for deep colonic diverticular bleeding: a three-case series

    PubMed Central

    Koga, Mikinori; Kusano, Chika; Gotoda, Takuji; Suzuki, Sho; Sato, Takemasa; Fukuzawa, Masakatsu; Itoi, Takao; Moriyasu, Fuminori

    2016-01-01

    Background and aims: In hemostasis for colonic diverticular bleeding, the incidence of recurrent bleeding is higher in deep colonic diverticulum than in shallow. We aimed to improve and evaluate barium impaction therapy using an enteroscopic overtube with balloon. Patients and method: We performed barium impaction therapy in three patients with a diagnosis of deep colonic diverticular bleeding. The tip of the overtube was inserted to reach the cecum using the conventional method. After deflating the colon, the enteroscope was removed. The balloon in the tube was inflated, followed by barium filling via the tube. Sufficient pressure was applied by ensuring no regurgitation into the small intestine side. The entire colon was continuously filled with barium in stages. Results: Post-treatment bleeding was controllable without adverse events in all three patients. Conclusion: This novel barium impaction therapy using an enteroscopic overtube with balloon was effectively performed without adverse events. PMID:27227115

  16. [Intersexuality in hornless XX-goats: pathological findings in 2 young pseudobucks, 3 young bucks with urethral diverticula and 2 pseudohermaphroditic kids].

    PubMed

    König, H; Elmiger, B; Stranzinger, G

    1992-01-01

    Dealing with the subject "polled goats intersexuality", whose problems are discussed, we studied the pathology of 7 3-month old XX-kids: 2 pseudomales, 3 males with urethral diverticulum (1 animal with 2 U.D.), and 2 testicular pseudohermaphrodites. Four horned male kids of comparable age were used as control. Urethral diverticula, seen now and then in local breeds, i.e. in "chamois-colored" mountain goats, Saanen, and Toggenburg goats, are rather unknown and only sporadically reported abroad. In agreement with previous histological studies, the testes were hypoplastic, the spermatogonia absent. In no case ovarian tissue was found. The Leydig cells appeared to be functionally active. The selection of an experimental flock of intersex-free polled goats is proposed. PMID:1609259

  17. New earthworms of the Amynthas morrisi-group (Oligochaeta, Megascolecidae) from Hainan Island, China.

    PubMed

    Sun, Jing; Jiang, Ji-Bao; Zhao, Qi; Qiu, Jiang-Ping

    2015-01-01

    This paper describes two new species of earthworms belonging to the Amynthas morrisi-group from Hainan Island, China: Amynthas zonarius sp. nov. and Amynthas wuzhimontis sp. nov. Both have two pairs of spermathecal pores in 5/6-6/7, and simple intestinal caeca. Amynthas zonarius sp. nov. has a pad-like male porophore, with flat-topped tubercle surrounded by 5 skin folds distal half of the spermathecal diverticulum dilated into band-shaped seminal chamber. Amynthas wuzhimontis sp. nov. has a seminal chamber constricted into moniliform subchambers and a glandular pad-like elliptical male pore porophore surrounded by the tumid area. Partial COI sequences of the holotypes of the two new species have been submitted to GenBank as DNA barcodes to enable molecular species identification. PMID:26701523

  18. Expression of transcription factor HNF-4 in the extraembryonic endoderm, gut, and nephrogenic tissue of the developing mouse embryo: HNF-4 is a marker for primary endoderm in the implanting blastocyst.

    PubMed Central

    Duncan, S A; Manova, K; Chen, W S; Hoodless, P; Weinstein, D C; Bachvarova, R F; Darnell, J E

    1994-01-01

    The expression of HNF-4 (hepatocyte nuclear factor 4) mRNA in postimplantation mouse embryos was analyzed by in situ hybridization. Expression was found in the primary endoderm at embryonic day 4.5 and was restricted to the columnar visceral endoderm cells of the yolk sac from day 5.5 to day 8.5. HNF-4 mRNA was first detected in embryonic tissues at day 8.5, in the liver diverticulum and the hindgut. At later times HNF-4 transcripts were observed in the mesonephric tubules, pancreas, stomach, and intestine and, still later, in the metanephric tubules of the developing kidney. This expression pattern suggests that HNF-4 has a role in the earliest stages of murine postimplantation development as well as in organogenesis. Images PMID:8052626

  19. Complicated bile duct stones

    PubMed Central

    Roy, Ashwin; Martin, Derrick

    2013-01-01

    Common bile duct stones (CBDSs) are solid deposits that can either form within the gallbladder or migrate to the common bile duct (CBD), or form de novo in the biliary tree. In the USA around 15% of the population have gallstones and of these, 3% present with symptoms annually. Because of this, there have been major advancements in the management of gallstones and related conditions. Management is based on the patient's risk profile; young and healthy patients are likely to be recommended for surgery and elderly patients with comorbidities are usually recommended for endoscopic procedures. Imaging of gallstones has advanced in the last 30 years with endoscopic retrograde cholangiopancreatography evolving from a diagnostic to a therapeutic procedure in removing CBDSs. We present a complicated case of a patient with a CBDS and periampullary diverticulum and discuss the techniques used to diagnose and remove the stone from the biliary system. PMID:23946532

  20. The Tale of Spring Water Cysts

    PubMed Central

    Schweigert, Michael; Dubecz, Attila; Beron, Martin; Ofner, Dietmar; Stein, Hubert J.

    2012-01-01

    Congenital pericardial diverticula and cysts are extremely uncommon lesions within the anterior mediastinum. Both lesions derive from the pericardial celom and represent different stages of a common embryogenesis. Initial reports date from the 19th century. Surgical pioneers were Otto Pickhardt, who removed a pericardial cyst at Lenox Hill Hospital in New York in 1931, and Richard Sweet, who accomplished the first resection of a pericardial diverticulum at Massachusetts General Hospital in Boston in 1943. These lesions were also called spring water cysts because they usually contain watery, crystal-clear fluid. This history outlines the milestones of evolving surgical management, from the first report in 1837 up to the present time. PMID:22719140

  1. Subcutaneous Emphysema, Pneumomediastinum, Pneumoretroperitoneum, and Pneumoscrotum: Unusual Complications of Acute Perforated Diverticulitis

    PubMed Central

    Fosi, S.; Giuricin, V.; Girardi, V.; Di Caprera, E.; Costanzo, E.; Di Trapano, R.; Simonetti, G.

    2014-01-01

    Pneumomediastinum, and subcutaneous emphysema usually result from spontaneous alveolar wall rupture and, far less commonly, from disruption of the upper airways or gastrointestinal tract. Subcutaneous neck emphysema, pneumomediastinum, and retropneumoperitoneum caused by nontraumatic perforations of the colon have been infrequently reported. The main symptoms of spontaneous subcutaneous emphysema are swelling and crepitus over the involved site; further clinical findings in case of subcutaneous cervical and mediastinal emphysema can be neck and chest pain and dyspnea. Radiological imaging plays an important role to achieve the correct diagnosis and extension of the disease. We present a quite rare case of spontaneous subcutaneous cervical emphysema, pneumomediastinum, and pneumoretroperitoneum due to perforation of an occult sigmoid diverticulum. Abdomen ultrasound, chest X-rays, and computer tomography (CT) were performed to evaluate the free gas extension and to identify potential sources of extravasating gas. Radiological diagnosis was confirmed by the subsequent surgical exploration. PMID:25136471

  2. Missed diagnosis of complete urethral transection after sling: the case for translabial ultrasound.

    PubMed

    Rogo-Gupta, Lisa; Le, Ngoc-Bich; Raz, Shlomo

    2012-01-01

    Patients with complications of urethral sling placement for stress urinary incontinence are often treated for recurrent symptoms for years after initial reassuring evaluation. Translabial ultrasound is a noninvasive modality with minimal risks that can clearly diagnose urethral mesh complications. We present a 47-year-old premenopausal woman referred for treatment of urethral stricture and diverticulum 8 years after mesh sling placement. The diagnosis was made at an outside institution by voiding cystourethrogram and cystoscopy. However, translabial ultrasound confirmed the diagnosis of complete urethral transection, and the patient underwent a complex urethral reconstruction. Ultrasound should be used to evaluate patients with a history of urethral sling and persistent lower urinary tract symptoms. Referral to a center with advanced pelvic reconstruction services may be required. PMID:22453271

  3. COMMON LESIONS OF THE URETHRA IN WOMEN

    PubMed Central

    Burkland, Carl E.

    1952-01-01

    Urethral disease in women and girls often is overlooked. As the urine may seem to be normal as determined by repeated urinalysis, the symptoms—urinary frequency and burning—may be attributed entirely to other pelvic disease or to functional disorder. Since erroneous diagnosis may lead to unnecessary procedures or to neglect of treatment with consequent development of severe disease in the kidneys or ureters, it is important to consider urethral lesions as a possible cause in any case of abdominal discomfort in women. The most common lesions of the urethra in women are urethritis, stricture, caruncle, inflammatory polyps and cysts, prolapse of the urethra, and diverticulum. In some cases diagnosis can be made simply on the basis of inspection and palpation. In others more extensive diagnostic procedures must be carried out in order that treatment may be definitive. The methods of treatment, varying with the nature of the lesion, are outlined herein. PMID:14905285

  4. [Multicystic renal dysplasia: changes in the contralateral urinary tract].

    PubMed

    Navascues del Río, J A; Luque Mialdea, R; Cerdá Berrocal, J; Martín Crespo, R; Arrojo Vila, F

    1996-06-01

    We have treated seven children with multicystic dysplastic kidney during the last 15 years. Three of then presented contralateral upper urinary tract anomalies. Four cases were diagnosed during prenatal period and three during the first term of life. We did analytic kidney function evaluation, ultrasound examination, voiding cystourethrography, radionuclide scan, gammagraphy, excretory urography and urinary cultures in all cases. We have found a vesicoureteral reflux with a bifid pelvis associated in the same child and two other cases with nonobstructive hydronephrosis. The child with vesicoureteral reflux presented also ipsilateral anomalies like a bladder diverticulum and an incomplete urethral duplication. One child with hydronephrosis opposite to the multicystic dysplastic kidney, also presented a bowel malrotation and a congenital cardiopathy, as extra-urologic associated anomalies. PMID:8928684

  5. Plastic bag clip discovered in partial colectomy accompanying proposal for phylogenic plastic bag clip classification

    PubMed Central

    Lehmer, Larisa M; Ragsdale, Bruce D; Daniel, John; Hayashi, Edwin; Kvalstad, Robert

    2011-01-01

    A plastic bag clip was incidentally found anchored in the mucosa of a partial colectomy specimen 2.6 cm proximal to a ruptured diverticulum for which the patient, a mentally retarded, diabetic, 58-year-old man, underwent surgery. Over 20 cases of accidental ingestion of plastic bag clips have been published. Known complications include small bowel perforation, obstruction, dysphagia, gastrointestinal bleeding and colonic impaction. Preoperative diagnosis of plastic clips lodged in the gastrointestinal tract is frustrated due to radiographic translucency. This occult threat could likely be prevented by the design of gastrointestinally safe, plastic-bag-sealing devices. Presented here is a morphologically based classification of bag clips as a possible guide for determining the most hazardous varieties and to aid further discussions of their impact on health. PMID:22679182

  6. Ureteric Suture Urolithiasis Following Open Emergency Ureteric Repair

    PubMed Central

    Sarmah, Piyush B.; Kelly, Brian D.; Devarajan, Raghuram

    2016-01-01

    Suture urolithiasis is an unusual but recognised phenomenon following surgery on the urinary tract. We report a case in a 30-year-old man who sustained a gunshot injury to the left ureter in Burundi and underwent open ureteric repair in a regional hospital. He migrated to the UK and presented one year later with left loin pain. An intravenous urogram revealed two foci of calcification to the left of L3, within a peri-ureteric position. The patient underwent left-sided ureteroscopy where two calculi each formed around a nylon suture were discovered within a ureteric pseudo-diverticulum, and basketed. This is the first reported case of suture urolithiasis occurring following ureteric surgery. PMID:26989371

  7. Unusual cause of upper gastrointestinal bleed, when OGD could be fatal.

    PubMed

    Khehra, Raman; Agrawal, Satyanisth; Aoun, Elie; Midian, Robin

    2015-01-01

    A 57-year-old man presented with chest pain, dyspnoea and coffee grounds emesis. He was haemodynamically stable without significant drop in haemoglobin. He suddenly developed cardiac arrest with wide complex tachycardia and became comatose. CT scan of the head revealed pneumocephalus and multiple infarcts. Given the recent history of radiofrequency ablation for atrial fibrillation, atrio-oesophageal fistula (AOF) was suspected. CT angiography of the thorax showed a 5 mm diverticulum on the posterior wall of the left atrium, also raising suspicion for AOF. The patient was taken to the operating room. An AOF was found and repaired. He did not have any further gastrointestinal bleeding. There was no neurological recovery at day 11 and life support was withdrawn per his family's request. This case highlights the importance of obtaining history of recent cardiac procedures in patients presenting with an upper gastrointestinal bleed. An oesophagogastroduodenoscopy in this patient could have been instantaneously deadly. PMID:26438675

  8. Salivary gland necrosis in dogs: a retrospective study of 19 cases.

    PubMed

    Schroeder, H; Berry, W L

    1998-03-01

    Salivary gland necrosis has been described in dogs and is characterised by enlarged, hard, painful salivary glands, retching and vomiting or regurgitation. The cause has yet to be determined. A retrospective study of 19 dogs with the same clinical signs was undertaken for breed, age, gender, history and presenting signs, diagnostic evaluations and findings, treatment and outcome. An underlying association was identified in 16 of the 19 dogs. This included Spirocerca lupi infestation (seven dogs), megaoesophagus (three dogs) and oesophagitis, oesophageal diverticulum, giardiasis and suspected autoimmune sialadenitis. Almost all associated lesions involved the oesophagus. Where the associated disease was successfully treated, the salivary glands returned to normal and all clinical signs resolved. It is hypothesised that an afferent vagal reflex may be involved, and that the mechanism of disease is similar to the neural pathogenesis suggested for hypertrophic osteopathy; in this instance, the efferent targets are the salivary glands rather than the limbs. PMID:9551379

  9. A case of a urethral diverticular adenocarcinoma after the fenestration of the anterior vaginal wall for pelvic floor abscess

    PubMed Central

    Watanabe, Ryuta; Sugahara, Takeshi; Hamada, Hitoshi

    2016-01-01

    A 61-year-old woman presented to the gynecology department with complaints of atypical genital bleeding. Magnetic resonance imaging revealed a localized urethral tumor extended to vagina. Histological test of the biopsy tissue of the mass suggested the adenocarcinoma. The patient was performed the fenestration of the anterior vaginal wall 15 years ago. Under the diagnosis of urethral diverticular adenocarcinoma, we performed standard open total cystectomy with lymph node excision and ileal conduit. We could not establish a diagnosis of urethral diverticulum from the histological test; however, we clinically diagnosed as urethral diverticular adenocarcinoma. Because carcinoma arising from urethral diverticula is reported, a close long-term follow-up for the recurrence or generation of malignant tumors by genitourinary examinations or images is necessary, for the patient with urethral diverticula. PMID:26941237

  10. Solitary Large Intestinal Diverticulitis in Leatherback Turtles (Dermochelys coriacea).

    PubMed

    Stacy, B A; Innis, C J; Daoust, P-Y; Wyneken, J; Miller, M; Harris, H; James, M C; Christiansen, E F; Foley, A

    2015-07-01

    Leatherback sea turtles are globally distributed and endangered throughout their range. There are limited data available on disease in this species. Initial observations of solitary large intestinal diverticulitis in multiple leatherbacks led to a multi-institutional review of cases. Of 31 subadult and adult turtles for which complete records were available, all had a single exudate-filled diverticulum, as large as 9.0 cm in diameter, arising from the large intestine immediately distal to the ileocecal junction. All lesions were chronic and characterized by ongoing inflammation, numerous intralesional bacteria, marked attenuation of the muscularis, ulceration, and secondary mucosal changes. In three cases, Morganella morganii was isolated from lesions. Diverticulitis was unrelated to the cause of death in all cases, although risk of perforation and other complications are possible. PMID:25239052

  11. Imaging a boa constrictor--the incomplete double aortic arch syndrome.

    PubMed

    Narayan, Rajeev L; Kanwar, Anubhav; Jacobi, Adam; Sanz, Javier

    2012-11-01

    Incomplete double aortic arch is a rare anomaly resulting from atresia rather than complete involution in the distal left arch resulting in a non-patent fibrous cord between the left arch and descending thoracic aorta. This anatomic anomaly may cause symptomatic vascular rings, leading to stridor, wheezing, or dysphagia, requiring surgical transection of the fibrous cord. Herein, we describe an asymptomatic 59 year-old man presenting for contrast-enhanced CT angiography to assess cardiac anatomy prior to radiofrequency ablation, who was incidentally found to have an incomplete double aortic arch with hypoplasia of the left arch segment and an aortic diverticulum. Recognition of this abnormality by imaging is important to inform both corrective surgery in symptomatic patients, as well as assist in the planning of percutaneous coronary and vascular interventions. PMID:22542042

  12. A case of sigmoid colon duplication in an adult woman.

    PubMed

    Al-Jaroof, Abdulla Hassan; Al-Zayer, Faisal; Meshikhes, Abdul-Wahed Nasir

    2014-01-01

    Colonic duplication is a rare congenital anomaly that is often diagnosed in childhood, but may go unrecognised until adulthood. It often presents with chronic abdominal pain and constipation, and the preoperative diagnosis may be difficult. We present a case of sigmoid duplication in a 33-year-old Indonesian woman who presented with right-sided colicky abdominal pain and vomiting. Clinical examination was unremarkable and radiological investigations raised the possibility of a giant colon diverticulum. The patient underwent exploratory laparotomy that revealed a tubular sigmoid duplication. A sigmoid colectomy with end-to-end anastomosis was performed. She was discharged a week later and remained well at 1 year follow-up. Colon duplications rarely present in adult life and the accurate diagnosis is often made at laparotomy. PMID:25096653

  13. Trends in Simple Prostatectomy for Benign Prostatic Hyperplasia.

    PubMed

    Pariser, Joseph J; Packiam, Vignesh T; Adamsky, Melanie A; Bales, Gregory T

    2016-08-01

    The definitive treatment for symptomatic large volume (>80 mL) benign prostatic hyperplasia (BPH) is simple prostatectomy (SP). This can be performed by utilizing a retropubic, suprapubic, or a combined approach. The latter two approaches allow for the management of concomitant bladder diverticulum or stones through the same incision. Each approach affords unique technical strengths and weaknesses that must be considered in light of patient characteristics and concomitant pathology. SP allows for removal of the entire prostatic adenoma while obviating some of the neurovascular and continence issues that can arise from radical prostatectomy. Concerns with SP include its relatively high perioperative morbidity, notably bleeding. Therefore, there is increasing interest in less invasive options, including enucleation procedures and minimally invasive SP. This review presents an update regarding trends and outcomes of SP, as well as the effectiveness and popularity of alternative treatments. PMID:27294802

  14. [A case of abdominal wall actinomycosis].

    PubMed

    Kim, Kyung Hoon; Lee, Jin Soo; Cho, Hyeong Jun; Choi, Seung Bong; Cheung, Dae Young; Kim, Jin Il; Lee, In Kyu

    2015-04-01

    Actinomycosis is a chronic suppurative granulomatous infectious disease caused by actinomyces species that is characterized by formation of characteristic clumps called as sulfur granules. Abdominal actinomycosis is a rare disease and is often difficult to diagnose before operation. Abdominal actinomycosis infiltrating into the abdominal wall and adhering to the colon is even rarer. Most abdominal actinomycosis develops after operation, trauma or inflammatory bowel disease, and is also considered as an opportunistic infection in immunocompromised patient with underlying malignancy, diabetes mellitus, human immunodeficiency virus infection, etc. Actinomycosis is diagnosed based on histologic demonstration of sulfur granules in surgically resected specimen or pus, and treatment consists of long-term penicillin based antibiotics therapy with or without surgical resection. Herein, we report an unusual case of abdominal wall actinomycosis which developed in a patient after acupuncture and presented as abdominal wall mass that was first mistaken for abdominal wall invasion of diverticulum perforation. PMID:25896158

  15. Plastic bag clip discovered in partial colectomy accompanying proposal for phylogenic plastic bag clip classification.

    PubMed

    Lehmer, Larisa M; Ragsdale, Bruce D; Daniel, John; Hayashi, Edwin; Kvalstad, Robert

    2011-01-01

    A plastic bag clip was incidentally found anchored in the mucosa of a partial colectomy specimen 2.6 cm proximal to a ruptured diverticulum for which the patient, a mentally retarded, diabetic, 58-year-old man, underwent surgery. Over 20 cases of accidental ingestion of plastic bag clips have been published. Known complications include small bowel perforation, obstruction, dysphagia, gastrointestinal bleeding and colonic impaction. Preoperative diagnosis of plastic clips lodged in the gastrointestinal tract is frustrated due to radiographic translucency. This occult threat could likely be prevented by the design of gastrointestinally safe, plastic-bag-sealing devices. Presented here is a morphologically based classification of bag clips as a possible guide for determining the most hazardous varieties and to aid further discussions of their impact on health. PMID:22679182

  16. Duodenal obstruction following acute pancreatitis caused by a large duodenal diverticular bezoar

    PubMed Central

    Kim, Ji Hun; Chang, Jae Hyuck; Nam, Sung Min; Lee, Mi Jeong; Maeng, Il Ho; Park, Jin Young; Im, Yun Sun; Kim, Tae Ho; Park, Il Young; Han, Sok Won

    2012-01-01

    Bezoars are concretions of indigestible materials in the gastrointestinal tract. It generally develops in patients with previous gastric surgery or patients with delayed gastric emptying. Cases of periampullary duodenal divericular bezoar are rare. Clinical manifestations by a bezoar vary from no symptom to acute abdominal syndrome depending on the location of the bezoar. Biliary obstruction or acute pancreatitis caused by a bezoar has been rarely reported. Small bowel obstruction by a bezoar is also rare, but it is a complication that requires surgery. This is a case of acute pancreatitis and subsequent duodenal obstruction caused by a large duodenal bezoar migrating from a periampullary diverticulum to the duodenal lumen, which mimicked pancreatic abscess or microperforation on abdominal computerized tomography. The patient underwent surgical removal of the bezoar and recovered completely. PMID:23082068

  17. Degree of Sigmoid Sinus Compression and the Symptom Relief Using Magnetic Resonance Angiography in Venous Pulsating Tinnitus

    PubMed Central

    Guo, Ping

    2015-01-01

    Objectives To show that mechanical compression of sigmoid sinus is effective for treatment of pulsatile tinnitus caused by sigmoid sinus enlargement, and to evaluate the relationship between the compression degree of sigmoid sinus and the tinnitus symptom relief using magnetic resonance angiography. Methods Medical records of twenty-four patients who were diagnosed with venous tinnitus caused by sigmoid sinus enlargement and underwent mechanical compression of sigmoid sinus were reviewed between April 2009 and May 2013. All these patients received computed tomography and magnetic resonance venography study before undergoing surgery and were followed for at least 4 months. Results Twenty-three patients felt relief from tinnitus three months after the surgery, and the cross-sectional area of the sigmoid sinus on the tinnitus side was compressed approximately by half (46%-69%) after the surgery. There were 4 patients whose tinnitus suddenly disappeared while lying on the operating table before operation, which may be a result of the patient's emotional tension or postural changes from standing. One of the four patients felt no relief from tinnitus after the surgery, with the cross-sectional area of the sigmoid sinus only compressed by 30%. And two patients of them had a recurrence of tinnitus about 6 months after the surgery. Seven patients had sigmoid sinus diverticula, and tinnitus would not disappear merely by eliminating the diverticulum until by compressing the sigmoid sinus to certain degree. There were 3 minor complications, including aural fullness, head fullness and hyperacusis. The preoperative low frequency conductive and sensorineural hearing loss of 7 subjects subsided. Conclusion Mechanical compression of sigmoid sinus is an effective treatment for pulsatile tinnitus caused by sigmoid sinus enlargement, even if it might be accompanied by sigmoid sinus diverticulum. A compression degree of sigmoid sinus about 54% is adequate for the relief of tinnitus

  18. The Postpharyngeal Gland: Specialized Organ for Lipid Nutrition in Leaf-Cutting Ants

    PubMed Central

    Decio, Pâmela; Vieira, Alexsandro Santana; Dias, Nathalia Baptista; Palma, Mario Sergio; Bueno, Odair Correa

    2016-01-01

    There are several hypotheses about the possible functions of the postpharyngeal gland (PPG) in ants. The proposed functions include roles as cephalic or gastric caeca and diverticulum of the digestive tract, mixing of hydrocarbons, nestmate recognition, feeding larvae, and the accumulation of lipids inside this gland, whose origin is contradictory. The current study aimed to investigate the functions of these glands by examining the protein expression profile of the PPGs of Atta sexdens rubropilosa (Hymenoptera, Formicidae). Mated females received lipid supplementation and their glands were extracted and analyzed using a proteomic approach. The protocol used combined two-dimensional electrophoresis and shotgun strategies, followed by mass spectrometry. We also detected lipid β-oxidation by immunofluorescent marking of acyl-CoA dehydrogenase. Supplying ants with lipids elicited responses in the glandular cells of the PPG; these included increased expression of proteins related to defense mechanisms and signal transduction and reorganization of the cytoskeleton due to cell expansion. In addition, some proteins in PPG were overexpressed, especially those involved in lipid and energy metabolism. Part of the lipids may be reduced, used for the synthesis of fatty alcohol, transported to the hemolymph, or may be used as substrate for the synthesis of acetyl-CoA, which is oxidized to form molecules that drive oxidative phosphorylation and produce energy for cellular metabolic processes. These findings suggest that this organ is specialized for lipid nutrition of adult leaf-cutting ants and characterized like a of diverticulum foregut, with the ability to absorb, store, metabolize, and mobilize lipids to the hemolymph. However, we do not rule out that the PPG may have other functions in other species of ants. PMID:27149618

  19. MR evaluation of synovial injury in shoulder trauma.

    PubMed

    Chalian, Majid; Soldatos, Theodoros; Faridian-Aragh, Neda; Andreisek, Gustav; McFarland, Edward G; Carrino, John A; Chhabra, Avneesh

    2011-10-01

    The purpose of this study was to determine magnetic resonance imaging (MRI) findings relevant to synovial injury of the shoulder in patients with and without acute shoulder trauma. Three hundred and nine consecutive shoulder MRI studies (185-male, 124-female, 50 ± 15 years old) were retrospectively evaluated for findings suggestive of synovial injury including rupture and/or diverticulum of the joint capsule, bursa, and biceps tendon sheath (BTS), ganglion/synovial cyst, geyser phenomenon, and sequel of previous shoulder dislocation (Hill-Sachs deformity). Patients with one or more of these findings were included in the MR-positive group, whereas the remaining subjects were used as MR negatives. Based on their medical records, patients were also divided into trauma and non-trauma groups, and statistical analysis was performed to evaluate the association between the aforementioned MRI findings and history of shoulder trauma. Fifty-six patients were included in the MR-positive group and 253 in the MR-negative group. In MR-positive group, the incidence of capsular rupture (CR) and subacromial/subdeltoid (SASD) bursal rupture was higher in trauma patients, whereas the incidence of BTS diverticulum and ganglion cyst was higher in subjects without trauma. Significant association was found between the history of acute trauma and CR, SASD bursal rupture, BTS rupture, and Hill-Sachs deformity. In shoulder MR examination, presence of CR and/or SASD bursal rupture is strongly suggestive of acute shoulder trauma. In addition, BTS rupture and Hill-Sachs deformity are more prevalent in patients with acute shoulder trauma. The presence of these features should alert MRI readers to assess for additional trauma-related internal derangements, if a respective history has not been provided. PMID:21735271

  20. The Postpharyngeal Gland: Specialized Organ for Lipid Nutrition in Leaf-Cutting Ants.

    PubMed

    Decio, Pâmela; Vieira, Alexsandro Santana; Dias, Nathalia Baptista; Palma, Mario Sergio; Bueno, Odair Correa

    2016-01-01

    There are several hypotheses about the possible functions of the postpharyngeal gland (PPG) in ants. The proposed functions include roles as cephalic or gastric caeca and diverticulum of the digestive tract, mixing of hydrocarbons, nestmate recognition, feeding larvae, and the accumulation of lipids inside this gland, whose origin is contradictory. The current study aimed to investigate the functions of these glands by examining the protein expression profile of the PPGs of Atta sexdens rubropilosa (Hymenoptera, Formicidae). Mated females received lipid supplementation and their glands were extracted and analyzed using a proteomic approach. The protocol used combined two-dimensional electrophoresis and shotgun strategies, followed by mass spectrometry. We also detected lipid β-oxidation by immunofluorescent marking of acyl-CoA dehydrogenase. Supplying ants with lipids elicited responses in the glandular cells of the PPG; these included increased expression of proteins related to defense mechanisms and signal transduction and reorganization of the cytoskeleton due to cell expansion. In addition, some proteins in PPG were overexpressed, especially those involved in lipid and energy metabolism. Part of the lipids may be reduced, used for the synthesis of fatty alcohol, transported to the hemolymph, or may be used as substrate for the synthesis of acetyl-CoA, which is oxidized to form molecules that drive oxidative phosphorylation and produce energy for cellular metabolic processes. These findings suggest that this organ is specialized for lipid nutrition of adult leaf-cutting ants and characterized like a of diverticulum foregut, with the ability to absorb, store, metabolize, and mobilize lipids to the hemolymph. However, we do not rule out that the PPG may have other functions in other species of ants. PMID:27149618

  1. Anatomical variation of superior petrosal vein and its management during surgery for cerebellopontine angle meningiomas.

    PubMed

    Watanabe, Takao; Igarashi, Takahiro; Fukushima, Takao; Yoshino, Atsuo; Katayama, Yoichi

    2013-10-01

    No systematic study is yet available that focuses on the surgical anatomy of the superior petrosal vein and its significance during surgery for cerebellopontine angle meningiomas. The aim of the present study was to examine the variation of the superior petrosal vein via the retrosigmoid suboccipital approach in relation to the tumor attachment of cerebellopontine angle meningiomas as well as postoperative complications related to venous occlusion. Forty-three patients with cerebellopontine angle meningiomas were analyzed retrospectively. Based on the operative findings, the tumors were classified into four subtypes: the petroclival type, tentorial type, anterior petrous type, and posterior petrous type. According to a previous anatomical report, the superior petrosal veins were divided into three groups: Type I which emptied into the superior petrosal sinus above and lateral to the internal acoustic meatus, Type II which emptied between the lateral limit of the trigeminal nerve at Meckel's cave and the medial limit of the facial nerve at the internal acoustic meatus, and Type III which emptied into the superior petrosal sinus above and medial to Meckel's cave. In both the petroclival and anterior petrous types, the most common vein was Type III which is the ideal vein for a retrosigmoid approach. In contrast, the Type II vein which is at high risk of being sacrificed during a suprameatal approach procedure was most frequent in posterior petrous type, in which the superior petrosal vein was not largely an obstacle. Intraoperative sacrificing of veins was associated with a significantly higher rate of venous-related phenomena, while venous complications occurred even in cases where the superior petrosal vein was absent or compressed by the tumor. The variation in the superior petrosal vein appeared to differ among the tumor attachment subtypes, which could permit a satisfactory surgical exposure without dividing the superior petrosal vein. In cases where the

  2. Dual functions for WNT5A during cartilage development and in disease.

    PubMed

    Hosseini-Farahabadi, Sara; Geetha-Loganathan, Poongodi; Fu, Katherine; Nimmagadda, Suresh; Yang, Hoe Joong; Richman, Joy M

    2013-06-24

    Mouse and human genetic data suggests that Wnt5a is required for jaw development but the specific role in facial skeletogenesis is unknown. We mapped expression of WNT5A in the developing chicken skull and found that the highest expression was in early Meckel's cartilage but by stage 35 expression was decreased to background. We focused on chondrogenesis by targeting a retrovirus expressing WNT5A to the mandibular prominence prior to cell differentiation. Unexpectedly, there were no phenotypes in the first 6days following injection; however later the mandibular bones and Meckel's cartilage were reduced or missing on the treated side. To examine the effects on cartilage differentiation we treated micromass cultures from mandibular mesenchyme with Wnt5a-conditioned media (CM). Similar to in vivo viral data, cartilage differentiates normally, but, after 6days of culture, nearly all Alcian blue staining is lost. Collagen II and aggrecan were also decreased in treated cultures. The matrix loss was correlated with upregulation of metalloproteinases, MMP1, MMP13, and ADAMTS5 (codes for Aggrecanase). Moreover, Marimastat, an MMP and Aggrecanase inhibitor rescued cartilage matrix in Wnt5a-CM treated cultures. The pathways mediating these cartilage and RNA changes were investigated using luciferase assays. Wnt5a-CM was a potent inhibitor of the canonical pathway and strongly activated JNK/PCP signaling. To determine whether the matrix loss is mediated by repression of canonical signaling or activation of the JNK pathway we treated mandibular cultures with either DKK1, an antagonist of the canonical pathway, or a small molecule that antagonizes JNK signaling (TCS JNK 6o). DKK1 slightly increased cartilage formation and therefore suggested that the endogenous canonical signaling represses chondrogenesis. To test this further we added an excess of Wnt3a-CM and found that far fewer cartilage nodules differentiated. Since DKK1 did not mimic the effects of Wnt5a we excluded the

  3. RELAXIN enhances differentiation and matrix mineralization through Relaxin/insulin-like family peptide receptor 2 (Rxfp2) in MC3T3-E1 cells in vitro.

    PubMed

    Duarte, Carolina; Kobayashi, Yukiho; Kawamoto, Tatsuo; Moriyama, Keiji

    2014-08-01

    RELAXIN (RLN) is a polypeptide hormone of the insulin-like hormone family; it facilitates birth by softening and widening the pubic symphysis and cervix in many mammals, including humans. The role of RLN in bone metabolism was recently suggested by its ability to induce osteoclastogenesis and activate osteoclast function. RLN binds to RELAXIN/INSULIN-LIKE FAMILY PEPTIDE 1 (RXFP1) and 2 (RXFP2), with varying species-specific affinities. Young men with mutated RXFP2 are at high risk for osteoporosis, as RXFP2 influences osteoblast metabolism by binding to INSULIN-LIKE PEPTIDE 3 (INSL3). However, there have been no reports on RLN function in osteoblast differentiation and mineralization or on the functionally dominant receptors for RLN in osteoblasts. We previously described Rxfp1 and 2 expression patterns in developing mouse oral components, including the maxillary and mandibular bones, Meckel's cartilage, tongue, and tooth primordia. We hypothesized that Rln/Rxfp signaling is a key mediator of skeletal development and metabolism. Here, we present the gene expression patterns of Rxfp1 and 2 in developing mouse calvarial frontal bones as determined by in situ hybridization. In addition, RLN enhanced osteoblastic differentiation and caused abnormal mineralization and extracellular matrix metabolism through Rxfp2, which was predominant over Rxfp1 in MC3T3-E1 mouse calvarial osteoblasts. Our data suggest a novel role for Rln in craniofacial skeletal development and metabolism through Rxfp2. PMID:24857857

  4. Prenatal Diagnosis of Walker–Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus

    PubMed Central

    Abumansour, Iman S.; Al Sulmi, Eman; Chodirker, Bernard N.; Hunt, Jennifer C.

    2015-01-01

    Background Congenital hydrocephalus is a common and often disabling disorder. Various syndromic forms of hydrocephalus have been reported in the Palestinian population including Walker–Warburg syndrome (WWS), Carpenter syndrome, and Meckel syndrome. Aim In this report we discuss the antenatal diagnosis of congenital hydrocephalus in three related Palestinian families. Method Single nucleotide polymorphism (SNP) array was performed prenatally for the third affected fetus. Results A diagnosis of WWS was found and molecular testing revealed a known pathogenic mutation in the POMT2 gene. An affected fetus from the other family was diagnosed and tested postnatally in light of this finding. Testing of another affected stillborn offspring was performed and revealed the same mutation. Conclusions Here, we show that the use of prenatal SNP array testing can be helpful in elucidating the etiology of congenital hydrocephalus and in guiding appropriate perinatal care. Also, testing for this specific POMT2 mutation should be considered in cases of prenatally detected hydrocephalus in Palestinian families. PMID:26495167

  5. The retinal ciliopathies.

    PubMed

    Adams, N A; Awadein, Ahmed; Toma, Hassanain S

    2007-09-01

    While the functions of many of the proteins located in or associated with the photoreceptor cilia are poorly understood, disruption of the function of these proteins may result in a wide variety of phenotypes ranging from isolated retinal degeneration to more pleiotropic phenotypes. Systemic findings include neurosensory hearing loss, developmental delay, situs-inversus, infertility, disorders of limb and digit development, obesity, kidney disease, liver disease, and respiratory disease. The concept of "retinal ciliopathies" brings to attention the importance of further molecular analysis of this organelle as well as provides a potential common target for therapies for these disorders. The retinal ciliopathies include retinitis pigmentosa, macular degeneration, cone-dystrophy, cone-rod dystrophy, Leber congenital amaurosis, as well as retinal degenerations associated with Usher syndrome, primary ciliary dyskinesia, Senior-Loken syndrome, Joubert syndrome, Bardet-Biedl syndrome, Laurence-Moon syndrome, McKusick-Kaufman syndrome, and Biemond syndrome. Mutations for these disorders have been found in retinitis pigmentosa-1 (RP1), retinitis pigmentosa GTPase regulator (RPGR), retinitis pigmentosa GTPase regulator interacting protein (RPGR-IP), as well as the Usher, Bardet-Biedl, and nephronophthisis genes. Other systemic disorders associated with retinal degenerations that may also involve ciliary abnormalities include: Alstrom, Edwards-Sethi, Ellis-van Creveld, Jeune, Meckel-Gruber, Orofaciodigital Type 9, and Gurrieri syndromes. Understanding these conditions as ciliopathies may help the ophthalmologist to recognize associations between seemingly unrelated diseases and have a high degree of suspicion that a systemic finding may be present. PMID:17896309

  6. Cerebellopontine angle endodermal cyst presenting with hemifacial spasm.

    PubMed

    Karki, Prasanna; Bohara, Manoj; Yonezawa, Hajime; Tokimura, Hiroshi; Hirano, Hirofumi; Hanaya, Ryosuke; Arita, Kazunori

    2011-10-01

    Intracranial endodermal cysts presenting with hemifacial spasm (HFS) are extremely rare. We report a right cerebellopontine angle (CPA) endodermal cyst in a 56-year-old man who presented with a 6-month history of right-sided hemifacial spasm. Computed tomography revealed a homogenous, well-demarcated, hyperdense lesion extending from prepontine cistern to right CPA. Magnetic resonance imaging demonstrated a right CPA extra-axial cystic lesion protruding into Meckel's cave, with compression of cranial nerves VII and VIII. Light brown, creamy cystic content was totally removed, and the thin cyst wall surrounding cranial nerves VII and VIII and the right vertebral artery was subtotally removed through the right lateral suboccipital approach. On microscopic examination, the cyst wall was composed of mono- to multilayered stratified epithelia, which were lined by ciliated or nonciliated cuboidal cells, with cilia showing the characteristic 9 + 2 pattern. Immunohistochemistry showed positive staining of cells composing the cyst wall with carcinoembryonic antigen, epithelial membrane antigen, cytokeratin 8, and negative staining with cytokeratin 20, and S-100, thereby characterizing endodermal cyst. Postoperatively, the patient was free of facial spasm. PMID:21643804

  7. Pathophysiology and Treatment Options in Trigeminal Meningoceles

    PubMed Central

    Preuss, Matthias; Steinhoff, Alexander; Zühlke, Constantin J.; Schulz, Dirk; Stein, Marco; Nestler, Ulf; Christophis, Petros

    2013-01-01

    Trigeminal meningoceles, lateral to the maxillary nerve (V2), have seldom been reported as underlying pathology for spontaneous rhinoliquorrhea. In contrast to sphenoid meningoceles arising from a persistent lateral craniopharyngeal canal (Sternberg–Cruveilhier, medial to V2), their occurrence seems to be generated by addition of erosive processes to the constitutively thin bony shell underneath the semilunar ganglion, lateral to the round foramen (and V2). The developmental and anatomical relationships of trigeminal meningoceles to the sphenoid bone are depicted, and in a review of the literature we present the different surgical approaches employed for sealing the dura leak. In view of these techniques we discuss an unusual case of therapy-resistant rhinoliquorrhea with left-sided trigeminal meningocele involving the Meckel cave at the lateral sphenoid and reaching the superior orbital fissure and the medial orbital space. In contrast to patients who have lateral sphenoidal meningoceles with a persistent lateral craniopharyngeal canal (Sternberg–Cruveilhier), who can be treated successfully using an endoscopic transsphenoidal approach (recurrence rate 13.7%), the recurrence rate of cerebrospinal fluid (CSF) efflux for trigeminal meningoceles lies much higher (endoscopically 66%, open craniotomy 33%). The surgical strategy thus has to be chosen individually, taking into account specific anatomical situations and eventually preceding operations. PMID:24303342

  8. Caenorhabditis elegans ciliary protein NPHP-8, the homologue of human RPGRIP1L, is required for ciliogenesis and chemosensation.

    PubMed

    Liu, Lin; Zhang, Mingshu; Xia, Zhiping; Xu, Pingyong; Chen, Liangyi; Xu, Tao

    2011-07-01

    Nephronophthisis (NPHP) is the most frequent genetic cause of end-stage renal failure in children and young adults. NPHP8/RPGRIP1L is a novel ciliary gene that, when mutated, in addition to causing NPHP, also causes Joubert syndrome (JBTS) and Meckel syndrome (MKS). The exact function of NPHP8 and how defects in NPHP8 lead to human diseases are poorly understood. Here, we studied the Caenorhabditis elegans homolog nphp-8 (C09G5.8) and explored the possible function of NPHP-8 in ciliated sensory neurons. We determined the gene structure of nphp-8 through rapid amplification of cDNA ends (RACE) analysis and discovered an X-box motif that had been previously overlooked. Moreover, NPHP-8 co-localized with NPHP-4 at the transition zone at the base of cilia. Mutation of nphp-8 led to abnormal dye filling (Dyf) and shorter cilia lengths in a subset of ciliary neurons. In addition, chemotaxis to several volatile attractants was significantly impaired in nphp-8 mutants. Our data suggest that NPHP-8/RPGRIP1L plays an important role in cilia formation and cilia-mediated chemosensation in a cell type-specific manner. PMID:21689635

  9. Multimodality Management of Trigeminal Schwannomas.

    PubMed

    Niranjan, Ajay; Barnett, Samuel; Anand, Vijay; Agazzi, Siviero

    2016-08-01

    Patients presenting with trigeminal schwannomas require multimodality management by a skull base surgical team that can offer expertise in both transcranial and transnasal approaches as well as radiosurgical and microsurgical strategies. Improvement in neurologic symptoms, preservation of cranial nerve function, and control of mass effect are the primary goals of management for trigeminal schwannomas. Complete surgical resection is the treatment of choice but may not be possible in all cases. Radiosurgery is an option as primary management for small- to moderate-sized tumors and can be used for postoperative residuals or recurrences. Planned surgical resection followed by SRS for residual tumor is an effective option for larger trigeminal schwannomas. The endoscopic resection is an excellent approach for patients with an extradural tumor or tumors isolated to the Meckel cave. A detailed analysis of a tumor and its surroundings based on high-quality imaging can help better estimate the expected outcome from each treatment. An expert skull base team should be able to provide precise counseling for each patient's situation for selecting the best option. PMID:27441164

  10. Identification of a persistent primitive trigeminal artery following the transposition technique for trigeminal neuralgia: a case report.

    PubMed

    Kato, Naoki; Tanaka, Toshihide; Sakamoto, Hiroki; Arai, Takao; Hasegawa, Yuzuru; Abe, Toshiaki

    2011-01-01

    A patient who presented with trigeminal neuralgia associated with a persistent primitive trigeminal artery (PPTA) is presented. A 62-year-old woman suffering from right orbital pain was admitted to the hospital. Medical treatment for three months was ineffective, and her neuralgia had deteriorated and gradually spread in the maxillary division. Magnetic resonance imaging demonstrated the flow void signal attached to the right trigeminal nerve. Thus, microvascular decompression was performed. The superior cerebellar artery was the responsible artery, and it was transposed to decompress the trigeminal nerve. After this manoeuvre, an artery was identified running parallel to the trigeminal nerve toward Meckel's cave. The artery, which turned out to be a PPTA, communicated with the basilar artery. The PPTA was carefully observed, and it was found not to be the artery causing the neuralgia because it did not compress the nerve at surgical observation. No additional procedure between the PPTA and the trigeminal nerve was performed. The patient's symptom improved dramatically following surgery, and her postoperative course was uneventful. Postoperative three-dimensional computed tomography showed the PPTA. The findings in the present case suggest that transposition of the responsible artery effectively decompresses the root entry zone and assists in determining whether the PPTA is affecting the trigeminal nerve. PMID:22059208

  11. Functional Redundancy of the B9 Proteins and Nephrocystins in Caenorhabditis elegans Ciliogenesis

    SciTech Connect

    Williams, Corey; Winkelbauer, Marlene; Schafer, Jenny; Michaud III, Edward J; Yoder, Bradley

    2008-01-01

    Meckel-Gruber syndrome (MKS), nephronophthisis (NPHP), and Joubert syndrome (JBTS) are a group of heterogeneous cystic kidney disorders with partially overlapping loci. Many of the proteins associated with these diseases interact and localize to cilia and/or basal bodies. One of these proteins is MKS1, which is disrupted in some MKS patients and contains a B9 motif of unknown function that is found in two other mammalian proteins, B9D2 and B9D1. Caenorhabditis elegans also has three B9 proteins: XBX-7 (MKS1), TZA-1 (B9D2), and TZA-2 (B9D1). Herein, we report that the C. elegans B9 proteins form a complex that localizes to the base of cilia. Mutations in the B9 genes do not overtly affect cilia formation unless they are in combination with a mutation in nph-1 or nph-4, the homologues of human genes (NPHP1 and NPHP4, respectively) that are mutated in some NPHP patients. Our data indicate that the B9 proteins function redundantly with the nephrocystins to regulate the formation and/or maintenance of cilia and dendrites in the amphid and phasmid ciliated sensory neurons. Together, these data suggest that the human homologues of the novel B9 genes B9D2 and B9D1 will be strong candidate loci for pathologies in human MKS, NPHP, and JBTS.

  12. Clinical and molecular features of Joubert syndrome and related disorders

    PubMed Central

    Parisi, Melissa A.

    2009-01-01

    Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder characterized by a specific congenital malformation of the hindbrain and a broad spectrum of other phenotypic findings that is now known to be caused by defects in the structure and/or function of the primary cilium. The complex hindbrain malformation that is characteristic of JBTS can be identified on axial magnetic resonance imaging and is known as the molar tooth sign (MTS); other diagnostic criteria include intellectual disability, hypotonia, and often, abnormal respiratory pattern and/or abnormal eye movements. In addition, a broad spectrum of other anomalies characterize Joubert syndrome and related disorders (JSRD), and may include retinal dystrophy, ocular coloboma, oral frenulae and tongue tumors, polydactyly, cystic renal disease (including cystic dysplasia or juvenile nephronophthisis), and congenital hepatic fibrosis. The clinical course can be variable, but most children with this condition survive infancy to reach adulthood. At least 8 genes cause JSRD, with some genotype-phenotype correlations emerging, including the association between mutations in the MKS3 gene and hepatic fibrosis characteristic of the JSRD subtype known as COACH syndrome. Several of the causative genes for JSRD are implicated in other ciliary disorders, such as juvenile nephronophthisis and Meckel syndrome, illustrating the close association between these conditions and their overlapping clinical features that reflect a shared etiology involving the primary cilium. PMID:19876931

  13. MKS3-Related Ciliopathy with Features of Autosomal Recessive Polycystic Kidney Disease, Nephronophthisis, and Joubert Syndrome

    PubMed Central

    Gunay-Aygun, Meral; Parisi, Melissa A.; Doherty, Dan; Tuchman, Maya; Tsilou, Ekaterini; Kleiner, David E.; Huizing, Marjan; Turkbey, Baris; Choyke, Peter; Guay-Woodford, Lisa; Heller, Theo; Szymanska, Katarzyna; Johnson, Colin A.; Glass, Ian; Gahl, William A.

    2010-01-01

    Objectives To describe 3 children with mutations in a Meckel syndrome gene (MKS3), with features of autosomal recessive polycystic kidney disease (ARPKD), nephronophthisis, and Joubert syndrome (JS). Study design Biochemical evaluations, magnetic resonance and ultrasound imaging, electroretinograms, IQ testing, and sequence analysis of the PKHD1 and MKS3 genes were performed. Functional consequences of the MKS3 mutations were evaluated by cDNA sequencing and transfection studies with constructs of meckelin, the protein product of MKS3. Results These 3 children with MKS3 mutations had features typical of ARPKD, that is, enlarged, diffusely microcystic kidneys and early-onset severe hypertension. They also exhibited early-onset chronic anemia, a feature of nephronophthisis, and speech and oculomotor apraxia, suggestive of JS. Magnetic resonance imaging of the brain, originally interpreted as normal, revealed midbrain and cerebellar abnormalities in the spectrum of the “molar tooth sign” that characterizes JS. Conclusions These findings expand the phenotypes associated with MKS3 mutations. MKS3-related ciliopathies should be considered in patients with an ARPKD-like phenotype, especially in the presence of speech and oculomotor apraxia. In such patients, careful expert evaluation of the brain images can be beneficial because the brain malformations can be subtle. PMID:19540516

  14. 2008 Homer W. Smith Award: insights into the pathogenesis of polycystic kidney disease from gene discovery.

    PubMed

    Harris, Peter C

    2009-06-01

    Polycystic kidney diseases (PKD) are a group of inherited disorders characterized by morbidity-associated development of renal cysts. Three forms of PKD are described here: The common, late onset, autosomal dominant PKD (ADPKD); the mainly infantile, autosomal recessive PKD (ARPKD); and the lethal, syndromic, Meckel syndrome that also includes central nervous system and digital defects. Positional cloning approaches based on genetic linkage have identified the disease genes in these disorders. Completion of the Human Genome Project, cases with atypical mutation, and animal models have greatly aided gene identification, and characterization of the disease genes has allowed establishment of molecular diagnostics. Genetic and allelic heterogeneity, plus genetic modification, underlie the significant phenotypic variability in each disorder. Positional cloning identified novel disease-associated protein families: The polycystins (ADPKD); fibrocystins (ARPKD); and meckelin. A common feature of pathogenesis in each disorder seems to be the primary cilia, implicating detection of fluid flow and the developmental process of planar cell polarity. Identifying the primary defect has contributed to our understanding of defective cellular processes and highlights potential therapeutic targets. A number of agents are now in Phase 3 trials, and many others show promise preclinically, providing hope of effective treatments for ADPKD in the foreseeable future. PMID:19423684

  15. A Cretaceous eutriconodont and integument evolution in early mammals.

    PubMed

    Martin, Thomas; Marugán-Lobón, Jesús; Vullo, Romain; Martín-Abad, Hugo; Luo, Zhe-Xi; Buscalioni, Angela D

    2015-10-15

    The Mesozoic era (252-66 million years ago), known as the domain of dinosaurs, witnessed a remarkable ecomorphological diversity of early mammals. The key mammalian characteristics originated during this period and were prerequisite for their evolutionary success after extinction of the non-avian dinosaurs 66 million years ago. Many ecomorphotypes familiar to modern mammal fauna evolved independently early in mammalian evolutionary history. Here we report a 125-million-year-old eutriconodontan mammal from Spain with extraordinary preservation of skin and pelage that extends the record of key mammalian integumentary features into the Mesozoic era. The new mammalian specimen exhibits such typical mammalian features as pelage, mane, pinna, and a variety of skin structures: keratinous dermal scutes, protospines composed of hair-like tubules, and compound follicles with primary and secondary hairs. The skin structures of this new Mesozoic mammal encompass the same combination of integumentary features as those evolved independently in other crown Mammalia, with similarly broad structural variations as in extant mammals. Soft tissues in the thorax and abdomen (alveolar lungs and liver) suggest the presence of a muscular diaphragm. The eutriconodont has molariform tooth replacement, ossified Meckel's cartilage of the middle ear, and specialized xenarthrous articulations of posterior dorsal vertebrae, convergent with extant xenarthran mammals, which strengthened the vertebral column for locomotion. PMID:26469049

  16. Finite element modelling predicts changes in joint shape and cell behaviour due to loss of muscle strain in jaw development

    PubMed Central

    Brunt, Lucy H.; Norton, Joanna L.; Bright, Jen A.; Rayfield, Emily J.; Hammond, Chrissy L.

    2015-01-01

    Abnormal joint morphogenesis is linked to clinical conditions such as Developmental Dysplasia of the Hip (DDH) and to osteoarthritis (OA). Muscle activity is known to be important during the developmental process of joint morphogenesis. However, less is known about how this mechanical stimulus affects the behaviour of joint cells to generate altered morphology. Using zebrafish, in which we can image all joint musculoskeletal tissues at high resolution, we show that removal of muscle activity through anaesthetisation or genetic manipulation causes a change to the shape of the joint between the Meckel's cartilage and Palatoquadrate (the jaw joint), such that the joint develops asymmetrically leading to an overlap of the cartilage elements on the medial side which inhibits normal joint function. We identify the time during which muscle activity is critical to produce a normal joint. Using Finite Element Analysis (FEA), to model the strains exerted by muscle on the skeletal elements, we identify that minimum principal strains are located at the medial region of the joint and interzone during mouth opening. Then, by studying the cells immediately proximal to the joint, we demonstrate that biomechanical strain regulates cell orientation within the developing joint, such that when muscle-induced strain is removed, cells on the medial side of the joint notably change their orientation. Together, these data show that biomechanical forces are required to establish symmetry in the joint during development. PMID:26253758

  17. A Cretaceous eutriconodont and integument evolution in early mammals

    NASA Astrophysics Data System (ADS)

    Martin, Thomas; Marugán-Lobón, Jesús; Vullo, Romain; Martín-Abad, Hugo; Luo, Zhe-Xi; Buscalioni, Angela D.

    2015-10-01

    The Mesozoic era (252-66 million years ago), known as the domain of dinosaurs, witnessed a remarkable ecomorphological diversity of early mammals. The key mammalian characteristics originated during this period and were prerequisite for their evolutionary success after extinction of the non-avian dinosaurs 66 million years ago. Many ecomorphotypes familiar to modern mammal fauna evolved independently early in mammalian evolutionary history. Here we report a 125-million-year-old eutriconodontan mammal from Spain with extraordinary preservation of skin and pelage that extends the record of key mammalian integumentary features into the Mesozoic era. The new mammalian specimen exhibits such typical mammalian features as pelage, mane, pinna, and a variety of skin structures: keratinous dermal scutes, protospines composed of hair-like tubules, and compound follicles with primary and secondary hairs. The skin structures of this new Mesozoic mammal encompass the same combination of integumentary features as those evolved independently in other crown Mammalia, with similarly broad structural variations as in extant mammals. Soft tissues in the thorax and abdomen (alveolar lungs and liver) suggest the presence of a muscular diaphragm. The eutriconodont has molariform tooth replacement, ossified Meckel's cartilage of the middle ear, and specialized xenarthrous articulations of posterior dorsal vertebrae, convergent with extant xenarthran mammals, which strengthened the vertebral column for locomotion.

  18. TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.

    PubMed

    Lambacher, Nils J; Bruel, Ange-Line; van Dam, Teunis J P; Szymańska, Katarzyna; Slaats, Gisela G; Kuhns, Stefanie; McManus, Gavin J; Kennedy, Julie E; Gaff, Karl; Wu, Ka Man; van der Lee, Robin; Burglen, Lydie; Doummar, Diane; Rivière, Jean-Baptiste; Faivre, Laurence; Attié-Bitach, Tania; Saunier, Sophie; Curd, Alistair; Peckham, Michelle; Giles, Rachel H; Johnson, Colin A; Huynen, Martijn A; Thauvin-Robinet, Christel; Blacque, Oliver E

    2016-01-01

    The transition zone (TZ) ciliary subcompartment is thought to control cilium composition and signalling by facilitating a protein diffusion barrier at the ciliary base. TZ defects cause ciliopathies such as Meckel-Gruber syndrome (MKS), nephronophthisis (NPHP) and Joubert syndrome (JBTS). However, the molecular composition and mechanisms underpinning TZ organization and barrier regulation are poorly understood. To uncover candidate TZ genes, we employed bioinformatics (coexpression and co-evolution) and identified TMEM107 as a TZ protein mutated in oral-facial-digital syndrome and JBTS patients. Mechanistic studies in Caenorhabditis elegans showed that TMEM-107 controls ciliary composition and functions redundantly with NPHP-4 to regulate cilium integrity, TZ docking and assembly of membrane to microtubule Y-link connectors. Furthermore, nematode TMEM-107 occupies an intermediate layer of the TZ-localized MKS module by organizing recruitment of the ciliopathy proteins MKS-1, TMEM-231 (JBTS20) and JBTS-14 (TMEM237). Finally, MKS module membrane proteins are immobile and super-resolution microscopy in worms and mammalian cells reveals periodic localizations within the TZ. This work expands the MKS module of ciliopathy-causing TZ proteins associated with diffusion barrier formation and provides insight into TZ subdomain architecture. PMID:26595381

  19. Update on oral-facial-digital syndromes (OFDS).

    PubMed

    Franco, Brunella; Thauvin-Robinet, Christel

    2016-01-01

    Oral-facial-digital syndromes (OFDS) represent a heterogeneous group of rare developmental disorders affecting the mouth, the face and the digits. Additional signs may involve brain, kidneys and other organs thus better defining the different clinical subtypes. With the exception of OFD types I and VIII, which are X-linked, the majority of OFDS is transmitted as an autosomal recessive syndrome. A number of genes have already found to be mutated in OFDS and most of the encoded proteins are predicted or proven to be involved in primary cilia/basal body function. Preliminary data indicate a physical interaction among some of those proteins and future studies will clarify whether all OFDS proteins are part of a network functionally connected to cilia. Mutations in some of the genes can also lead to other types of ciliopathies with partially overlapping phenotypes, such as Joubert syndrome (JS) and Meckel syndrome (MKS), supporting the concept that cilia-related diseases might be a continuous spectrum of the same phenotype with different degrees of severity. To date, seven of the described OFDS still await a molecular definition and two unclassified forms need further clinical and molecular validation. Next-generation sequencing (NGS) approaches are expected to shed light on how many OFDS geneticists should consider while evaluating oral-facial-digital cases. Functional studies will establish whether the non-ciliary functions of the transcripts mutated in OFDS might contribute to any of the phenotypic abnormalities observed in OFDS. PMID:27141300

  20. Reconstructing the evolutionary history of the centriole from protein components

    PubMed Central

    Hodges, Matthew E.; Scheumann, Nicole; Wickstead, Bill; Langdale, Jane A.; Gull, Keith

    2010-01-01

    Centrioles are highly conserved structures that fulfil important cellular functions, such as nucleation of cilia and flagella (basal-body function) and organisation of pericentriolar material to form the centrosome. The evolution of these functions can be inferred from the distribution of the molecular components of extant centrioles and centrosomes. Here, we undertake an evolutionary analysis of 53 proteins known either for centriolar association or for involvement in cilia-associated pathologies. By linking protein distribution in 45 diverse eukaryotes with organism biology, we provide molecular evidence to show that basal-body function is ancestral, whereas the presence of the centrosome is specific to the Holozoa. We define an ancestral centriolar inventory of 14 core proteins, Polo-like-kinase, and proteins associated with Bardet-Biedl syndrome (BBS) and Meckel-Gruber syndrome. We show that the BBSome is absent from organisms that produce cilia only for motility, predicting a dominant and ancient role for this complex in sensory function. We also show that the unusual centriole of Caenorhabditis elegans is highly divergent in both protein composition and sequence. Finally, we demonstrate a correlation between the presence of specific centriolar proteins and eye evolution. This correlation is used to predict proteins with functions in the development of ciliary, but not rhabdomeric, eyes. PMID:20388734

  1. Associated anomalies with neural tube defects in fetal autopsies.

    PubMed

    Toru, Havva Serap; Sanhal, Cem Yasar; Uzun, Özlem Ceren; Ocak, Guzide Ayse; Mendilcioğlu, İnanç; Karaveli, Fatma Şeyda

    2016-03-01

    Neural tube defects (NTD), the consequences of aberrant neural tube closure during embryogenesis, have been mostly investigated in terms of their high prevalence, rate of mortalities and serious morbidities. A proper prenatal outcome counseling of couples coming across a fetal anomaly necessitates the detection and categorization of the primer abnormality, all the co-existing malformations. The aim of this work is to study the incidence and relevance of associated malformations in order to offer a complete pathology report with a true diagnosis. In this study, among 542 fetal autopsy 62 (%11.4) cases with NTD was recorded by the Akdeniz University Pathology Department between January 2006 and June 2012. Twenty (32.4%) NTD cases were associated with anomaly. Twelve cases of associated groups consisted of a congenital syndrome/association, spondylothoracic dysplasia, amniotic band syndrome, Meckel-Gruber syndrome, schisis association. The frequency of associated NTD was 32%, this result was higher than previous reports. NTDs have a significant genetic component to their etiology that interacts with environmental risk factors, which might pose Turkey to be a country with high prevalence of NTD. We want to emphasize that intensive screening, documentation of co-existent abnormalities of NTD, should be conducted in order to exhibit certain diagnosis, to perform proper prenatal genetic counseling of parents for on-going/future pregnancies. PMID:25800566

  2. [Maternal imagination and congenital malformations].

    PubMed

    Van Heiningen, Teunis Willem

    2011-01-01

    Since antiquity philosophers and scientists tried to explain the cause of congenital malformations. In early modern medicine maternal imagination was largely accepted as their true cause, This concept was rejected by Blondel, a London physician. Around 1750 Wolff introduced the Hemmungsbildung as the cause of congenital malformations, a concept adopted in 1781 by Blumenbach. Later on Soemmerring (1784), Crichton (1785) and Meckel the younger adopted Blumenbach's concept. In 1824 Suringar further developed it. More and more the excessive development of fetal blood vessels or nerves was rejected as a possible cause, although from time to time these ideas were adopted again. In the early 1800s Etienne Geoffroy Saint-Hilaire (1811) and Vrolik (1817) developed a classification of monstra. These attempts urged Isidore Geoffroy Saint-Hilaire (Etienne's son) and Vrolik the younger (Gerard's son) to develop it further. Nevertheless, around 1840 Vrolik had to admit that although we are well acqainted with the various malformations, we are still ignorant of the primary cause of these phenomena. Meanwhile the dispute between the adherents of the theory of preformation and those who had adopted the concept of epigenesis exercised many minds. In the second half of the eighteenth century the latter theory became more and more adopted and this fact cleared the way for the ideas introduced by Wolff and Blumenbach, because it was consistent with the idea of a gradual development of fetal structures. PMID:22073754

  3. Phase Structure of Strong-Field Tunneling Wave Packets from Molecules

    NASA Astrophysics Data System (ADS)

    Liu, Ming-Ming; Li, Min; Wu, Chengyin; Gong, Qihuang; Staudte, André; Liu, Yunquan

    2016-04-01

    We study the phase structure of the tunneling wave packets from strong-field ionization of molecules and present a molecular quantum-trajectory Monte Carlo model to describe the laser-driven dynamics of photoelectron momentum distributions of molecules. Using our model, we reproduce and explain the alignment-dependent molecular frame photoelectron spectra of strong-field tunneling ionization of N2 reported by M. Meckel et al. [Nat. Phys. 10, 594 (2014)]. In addition to modeling the low-energy photoelectron angular distributions quantitatively, we extract the phase structure of strong-field molecular tunneling wave packets, shedding light on its physical origin. The initial phase of the tunneling wave packets at the tunnel exit depends on both the initial transverse momentum distribution and the molecular internuclear distance. We further show that the ionizing molecular orbital has a critical effect on the initial phase of the tunneling wave packets. The phase structure of the photoelectron wave packet is a key ingredient for modeling strong-field molecular photoelectron holography, high-harmonic generation, and molecular orbital imaging.

  4. The ciliopathy gene Rpgrip1l is essential for hair follicle development

    PubMed Central

    Chen, Jiang; Laclef, Christine; Moncayo, Alejandra; Snedecor, Elizabeth R.; Yang, Ning; Li, Li; Takemaru, Ken-Ichi; Paus, Ralf; Schneider-Maunoury, Sylvie; Clark, Richard A

    2014-01-01

    The primary cilium is essential for skin morphogenesis through regulating the Notch, Wnt, and hedgehog signaling pathways. Prior studies on the functions of primary cilia in the skin were based on the investigations of genes that are essential for cilium formation. However, none of these ciliogenic genes has been linked to ciliopathy, a group of disorders caused by abnormal formation or function of cilia. To determine whether there is a genetic and molecular link between ciliopathies and skin morphogenesis, we investigated the role of RPGRIP1L, a gene mutated in Joubert (JBTS) and Meckel (MKS) syndromes, two severe forms of ciliopathy, in the context of skin development. We found that RPGRIP1L is essential for hair follicle morphogenesis. Specifically, disrupting the Rpgril1 gene in mice resulted in reduced proliferation and differentiation of follicular keratinocytes, leading to hair follicle developmental defects. These defects were associated with significantly decreased primary cilium formation and attenuated hedgehog signaling. In contrast, we found that hair follicle induction and polarization and the development of interfollicular epidermis were unaffected. This study indicates that RPGRIP1L, a ciliopathy gene, is essential for hair follicle morphogenesis likely through regulating primary cilia formation and the hedgehog signaling pathway. PMID:25398052

  5. Ciliopathy proteins establish a bipartite signaling compartment in a C. elegans thermosensory neuron

    PubMed Central

    Nguyen, Phuong Anh T.; Liou, Willisa; Hall, David H.; Leroux, Michel R.

    2014-01-01

    ABSTRACT How signaling domains form is an important, yet largely unexplored question. Here, we show that ciliary proteins help establish two contiguous, yet distinct cyclic GMP (cGMP) signaling compartments in Caenorhabditis elegans thermosensory AFD neurons. One compartment, a bona fide cilium, is delineated by proteins associated with Bardet–Biedl syndrome (BBS), Meckel syndrome and nephronophthisis at its base, and requires NPHP-2 (known as inversin in mammals) to anchor a cGMP-gated ion channel within the proximal ciliary region. The other, a subcompartment with profuse microvilli and a different lipid environment, is separated from the dendrite by a cellular junction and requires BBS-8 and DAF-25 (known as Ankmy2 in mammals) for correct localization of guanylyl cyclases needed for thermosensation. Consistent with a requirement for a membrane diffusion barrier at the subcompartment base, we reveal the unexpected presence of ciliary transition zone proteins where no canonical transition zone ultrastructure exists. We propose that differential compartmentalization of signal transduction components by ciliary proteins is important for the functions of ciliated sensory neurons. PMID:25335890

  6. Fetal syringomyelia.

    PubMed

    Guo, Anne; Chitayat, David; Blaser, Susan; Keating, Sarah; Shannon, Patrick

    2014-01-01

    We explored the prevalence of syringomyelia in a series of 113 cases of fetal dysraphism and hindbrain crowding, of gestational age ranging from 17.5 to 34 weeks with the vast majority less than 26 weeks gestational age. We found syringomyelia in 13 cases of Chiari II malformations, 5 cases of Omphalocele/Exostrophy/Imperforate anus/Spinal abnormality (OEIS), 2 cases of Meckel Gruber syndrome and in a single pair of pyopagus conjoined twins. Secondary injury was not uncommon, with vernicomyelia in Chiari malformations, infarct like histology, or old hemorrhage in 8 cases of syringomyelia. Vernicomyelia did not occur in the absence of syrinx formation. The syringes extended from the sites of dysraphism, in ascending or descending patterns. The syringes were usually in a major proportion anatomically distinct from a dilated or denuded central canal and tended to be dorsal and paramedian or median. We suggest that fetal syringomyelia in Chiari II malformation and other dysraphic states is often established prior to midgestation, has contributions from the primary malformation as well as from secondary in utero injury and is anatomically and pathophysiologically distinct from post natal syringomyelia secondary to hindbrain crowding. PMID:25092126

  7. The Slice Culture Method for Following Development of Tooth Germs In Explant Culture

    PubMed Central

    Alfaqeeh, Sarah A.; Tucker, Abigail S.

    2013-01-01

    Explant culture allows manipulation of developing organs at specific time points and is therefore an important method for the developmental biologist. For many organs it is difficult to access developing tissue to allow monitoring during ex vivo culture. The slice culture method allows access to tissue so that morphogenetic movements can be followed and specific cell populations can be targeted for manipulation or lineage tracing. In this paper we describe a method of slice culture that has been very successful for culture of tooth germs in a range of species. The method provides excellent access to the tooth germs, which develop at a similar rate to that observed in vivo, surrounded by the other jaw tissues. This allows tissue interactions between the tooth and surrounding tissue to be monitored. Although this paper concentrates on tooth germs, the same protocol can be applied to follow development of a number of other organs, such as salivary glands, Meckel's cartilage, nasal glands, tongue, and ear. PMID:24300332

  8. Mechanics of membrane-cytoskeleton attachment in Paramecium

    NASA Astrophysics Data System (ADS)

    Campillo, C.; Jerber, J.; Fisch, C.; Simoes-Betbeder, M.; Dupuis-Williams, P.; Nassoy, P.; Sykes, C.

    2012-12-01

    In this paper we assess the role of the protein MKS1 (Meckel syndrome type 1) in the cortical membrane mechanics of the ciliated protist Paramecium. This protein is known to be crucial in the process of cilium formation, and we investigate its putative role in membrane-cytoskeleton attachment. Therefore, we compare cells where the gene coding for MKS1 is silenced to wild-type cells. We found that scanning electron microscopy observation of the cell surface reveals a cup-like structure in wild-type cells that is lost in silenced cells. Since this structure is based on the underlying cytoskeleton, one hypothesis to explain this observation is a disruption of membrane attachment to the cytoskeleton in the absence of MKS1 that should affect plasma membrane mechanics. We test this by probing the mechanics of wild-type and silenced cells by micropipette aspiration. Strikingly, we observe that, at the same aspiration pressure, the membrane of silenced cells is easily aspirated by the micropipette whereas that of wild-type cells enters only at a moderate velocity, an effect that suggests a detachment of the membrane from the underlying cytoskeleton in silenced cells. We quantify this detachment by measuring the deformation of the cell cortex and the rate of cell membrane entry in the micropipette. This study offers a new perspective for the characterization of membrane-cytoskeleton attachment in protists and paves the way for a better understanding of the role of membrane-cortex attachment in cilium formation.

  9. Autosomal recessive disorders among Arabs: an overview from Kuwait.

    PubMed Central

    Teebi, A S

    1994-01-01

    Kuwait has a cosmopolitan population of 1.7 million, mostly Arabs. This population is a mosaic of large and small minorities representing most Arab communities. In general, Kuwait's population is characterized by a rapid rate of growth, large family size, high rates of consanguineous marriages within the Arab communities with low frequency of intermarriage between them, and the presence of genetic isolates and semi-isolates in some extended families and Bedouin tribes. Genetic services have been available in Kuwait for over a decade. During this time it has become clear that Arabs have a high frequency of genetic disorders, and in particular autosomal recessive traits. Their pattern is unique and some disorders are relatively common. Examples are Bardet-Biedl and Meckel syndromes, phenylketonuria, and familial Mediterranean fever. A relatively large number of new syndromes and variants have been delineated in Kuwait's population, many being the result of homozygosity for autosomal recessive genes that occurred because of inbreeding. Some of these syndromes have subsequently been found in other parts of the world, negating the concept of the private syndrome. This paper provides an overview of autosomal recessive disorders among the Arabs in Kuwait from a personal perspective and published studies, and highlights the need for genetic services in Arab countries with the goal of prevention and treatment of genetic disorders. PMID:8014972

  10. Experience of single-incision laparoscopy in children

    PubMed Central

    Ming, Yung Ching; Yang, Wendy; Chen, Jeng Chang; Chang, Pei Yeh; Lai, Jin Yao

    2016-01-01

    CONTEXT: Laparoscopic surgery is commonly used for the treatment of many pediatric surgical diseases at our department. Single-incision laparoscopic surgery (SILS) is well-known for its cosmetic benefit. We, hereby, present our experience of SILS and evaluate its efficacy. MATERIALS AND METHODS: From July 2012 to June 2014, 78 patients aged less than 18 years who underwent SILS were retrospectively evaluated. There were 44 males and 34 females, with a mean age of 10.3 years. The procedures included appendectomy (n = 64), reduction of intussusception (n = 8), removal of an intestinal foreign body (n = 3), and Meckel's diverticulectomy (n = 3). We compared the patients who underwent SILS with those who underwent conventional laparoscopic surgery (CLS), regarding these procedures. The parameters for analysis included the patient's demographic data, surgical indication, complications, operative time, and length of hospital stay. CONCLUSION: SILS is comparable to CLS regarding two major procedures, namely, appendectomy and reduction of intussusception. There were no significant differences between the two groups regarding the patients' demographic data, complications, and length of hospital stay. According to our experience of SILS, it could be a feasible and safe procedure for the treatment of various pediatric surgical diseases. However, large prospective randomized studies are needed to identify the differences between SIL and CLS. PMID:27279396

  11. Specification of jaw identity by the Hand2 transcription factor.

    PubMed

    Funato, Noriko; Kokubo, Hiroki; Nakamura, Masataka; Yanagisawa, Hiromi; Saga, Yumiko

    2016-01-01

    Acquisition of the lower jaw (mandible) was evolutionarily important for jawed vertebrates. In humans, syndromic craniofacial malformations often accompany jaw anomalies. The basic helix-loop-helix transcription factor Hand2, which is conserved among jawed vertebrates, is expressed in the neural crest in the mandibular process but not in the maxillary process of the first branchial arch. Here, we provide evidence that Hand2 is sufficient for upper jaw (maxilla)-to-mandible transformation by regulating the expression of homeobox transcription factors in mice. Altered Hand2 expression in the neural crest transformed the maxillae into mandibles with duplicated Meckel's cartilage, which resulted in an absence of the secondary palate. In Hand2-overexpressing mutants, non-Hox homeobox transcription factors were dysregulated. These results suggest that Hand2 regulates mandibular development through downstream genes of Hand2 and is therefore a major determinant of jaw identity. Hand2 may have influenced the evolutionary acquisition of the mandible and secondary palate. PMID:27329940

  12. Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans

    PubMed Central

    Shaheen, Ranad; Shamseldin, Hanan E.; Loucks, Catrina M.; Seidahmed, Mohammed Zain; Ansari, Shinu; Ibrahim Khalil, Mohamed; Al-Yacoub, Nadya; Davis, Erica E.; Mola, Natalie A.; Szymanska, Katarzyna; Herridge, Warren; Chudley, Albert E.; Chodirker, Bernard N.; Schwartzentruber, Jeremy; Majewski, Jacek; Katsanis, Nicholas; Poizat, Coralie; Johnson, Colin A.; Parboosingh, Jillian; Boycott, Kym M.; Innes, A. Micheil; Alkuraya, Fowzan S.

    2014-01-01

    Ciliopathies are characterized by a pattern of multisystem involvement that is consistent with the developmental role of the primary cilium. Within this biological module, mutations in genes that encode components of the cilium and its anchoring structure, the basal body, are the major contributors to both disease causality and modification. However, despite rapid advances in this field, the majority of the genes that drive ciliopathies and the mechanisms that govern the pronounced phenotypic variability of this group of disorders remain poorly understood. Here, we show that mutations in CSPP1, which encodes a core centrosomal protein, are disease causing on the basis of the independent identification of two homozygous truncating mutations in three consanguineous families (one Arab and two Hutterite) affected by variable ciliopathy phenotypes ranging from Joubert syndrome to the more severe Meckel-Gruber syndrome with perinatal lethality and occipital encephalocele. Consistent with the recently described role of CSPP1 in ciliogenesis, we show that mutant fibroblasts from one affected individual have severely impaired ciliogenesis with concomitant defects in sonic hedgehog (SHH) signaling. Our results expand the list of centrosomal proteins implicated in human ciliopathies. PMID:24360803

  13. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

    PubMed Central

    Travaglini, Lorena; Brancati, Francesco; Silhavy, Jennifer; Iannicelli, Miriam; Nickerson, Elizabeth; Elkhartoufi, Nadia; Scott, Eric; Spencer, Emily; Gabriel, Stacey; Thomas, Sophie; Ben-Zeev, Bruria; Bertini, Enrico; Boltshauser, Eugen; Chaouch, Malika; Roberta Cilio, Maria; de Jong, Mirjam M; Kayserili, Hulya; Ogur, Gonul; Poretti, Andrea; Signorini, Sabrina; Uziel, Graziella; Zaki, Maha S; Johnson, Colin; Attié-Bitach, Tania; Gleeson, Joseph G; Valente, Enza Maria

    2013-01-01

    Joubert syndrome and related disorders (JSRD) are clinically and genetically heterogeneous ciliopathies sharing a peculiar midbrain–hindbrain malformation known as the ‘molar tooth sign'. To date, 19 causative genes have been identified, all coding for proteins of the primary cilium. There is clinical and genetic overlap with other ciliopathies, in particular with Meckel syndrome (MKS), that is allelic to JSRD at nine distinct loci. We previously identified the INPP5E gene as causative of JSRD in seven families linked to the JBTS1 locus, yet the phenotypic spectrum and prevalence of INPP5E mutations in JSRD and MKS remain largely unknown. To address this issue, we performed INPP5E mutation analysis in 483 probands, including 408 JSRD patients representative of all clinical subgroups and 75 MKS fetuses. We identified 12 different mutations in 17 probands from 11 JSRD families, with an overall 2.7% mutation frequency among JSRD. The most common clinical presentation among mutated families (7/11, 64%) was Joubert syndrome with ocular involvement (either progressive retinopathy and/or colobomas), while the remaining cases had pure JS. Kidney, liver and skeletal involvement were not observed. None of the MKS fetuses carried INPP5E mutations, indicating that the two ciliopathies are not allelic at this locus. PMID:23386033

  14. Phase Structure of Strong-Field Tunneling Wave Packets from Molecules.

    PubMed

    Liu, Ming-Ming; Li, Min; Wu, Chengyin; Gong, Qihuang; Staudte, André; Liu, Yunquan

    2016-04-22

    We study the phase structure of the tunneling wave packets from strong-field ionization of molecules and present a molecular quantum-trajectory Monte Carlo model to describe the laser-driven dynamics of photoelectron momentum distributions of molecules. Using our model, we reproduce and explain the alignment-dependent molecular frame photoelectron spectra of strong-field tunneling ionization of N_{2} reported by M. Meckel et al. [Nat. Phys. 10, 594 (2014)]. In addition to modeling the low-energy photoelectron angular distributions quantitatively, we extract the phase structure of strong-field molecular tunneling wave packets, shedding light on its physical origin. The initial phase of the tunneling wave packets at the tunnel exit depends on both the initial transverse momentum distribution and the molecular internuclear distance. We further show that the ionizing molecular orbital has a critical effect on the initial phase of the tunneling wave packets. The phase structure of the photoelectron wave packet is a key ingredient for modeling strong-field molecular photoelectron holography, high-harmonic generation, and molecular orbital imaging. PMID:27152800

  15. C5orf42 is the major gene responsible for OFD syndrome type VI.

    PubMed

    Lopez, Estelle; Thauvin-Robinet, Christel; Reversade, Bruno; Khartoufi, Nadia El; Devisme, Louise; Holder, Muriel; Ansart-Franquet, Hélène; Avila, Magali; Lacombe, Didier; Kleinfinger, Pascale; Kaori, Irahara; Takanashi, Jun-Ichi; Le Merrer, Martine; Martinovic, Jelena; Noël, Catherine; Shboul, Mohammad; Ho, Lena; Güven, Yeliz; Razavi, Ferechté; Burglen, Lydie; Gigot, Nadège; Darmency-Stamboul, Véronique; Thevenon, Julien; Aral, Bernard; Kayserili, Hülya; Huet, Frédéric; Lyonnet, Stanislas; Le Caignec, Cédric; Franco, Brunella; Rivière, Jean-Baptiste; Faivre, Laurence; Attié-Bitach, Tania

    2014-03-01

    Oral-facial-digital syndrome type VI (OFD VI) is a recessive ciliopathy defined by two diagnostic criteria: molar tooth sign (MTS) and one or more of the following: (1) tongue hamartoma (s) and/or additional frenula and/or upper lip notch; (2) mesoaxial polydactyly of one or more hands or feet; (3) hypothalamic hamartoma. Because of the MTS, OFD VI belongs to the "Joubert syndrome related disorders". Its genetic aetiology remains largely unknown although mutations in the TMEM216 gene, responsible for Joubert (JBS2) and Meckel-Gruber (MKS2) syndromes, have been reported in two OFD VI patients. To explore the molecular cause(s) of OFD VI syndrome, we used an exome sequencing strategy in six unrelated families followed by Sanger sequencing. We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive OFD VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, corpus callosum agenesis, polydactyly and skeletal dysplasia. C5orf42 mutations have already been reported in Joubert syndrome confirming that OFD VI and JBS are allelic disorders, thus enhancing our knowledge of the complex, highly heterogeneous nature of ciliopathies. PMID:24178751

  16. Dual-Port 2D and 3D Endoscopy: Expanding the Limits of the Endonasal Approaches to Midline Skull Base Lesions with Lateral Extension

    PubMed Central

    Beer-Furlan, Andre; Evins, Alexander I.; Rigante, Luigi; Anichini, Giulio; Stieg, Philip E.; Bernardo, Antonio

    2014-01-01

    Objective To investigate a novel dual-port endonasal and subtemporal endoscopic approach targeting midline lesions with lateral extension beyond the intracavernous carotid artery anteriorly and the Dorello canal posteriorly. Methods Ten dual-port approaches were performed on five cadaveric heads. All specimens underwent an endoscopic endonasal approach from the sella to middle clivus. The endonasal port was combined with an anterior or posterior endoscopic extradural subtemporal approach. The anterior subtemporal port was placed directly above the middle third of the zygomatic arch, and the posterior port was placed at its posterior root. The extradural space was explored using two-dimensional and three-dimensional endoscopes. Results The anterior subtemporal port complemented the endonasal port with direct access to the Meckel cave, lateral sphenoid sinus, superior orbital fissure, and lateral and posterosuperior compartments of the cavernous sinus; the posterior subtemporal port enhanced access to the petrous apex. Endoscopic dissection and instrument maneuverability were feasible and performed without difficulty in both the anterior and posterior subtemporal ports. Conclusion The anterior and posterior subtemporal ports enhanced exposure and control of the region lateral to the carotid artery and Dorello canal. Dual-port neuroendoscopy is still minimally invasive yet dramatically increases surgical maneuverability while enhancing visualization and control of anatomical structures. PMID:25072012

  17. Jaw anatomy of Potamogale velox (Tenrecidae, Afrotheria) with a focus on cranial arteries and the coronoid canal in mammals.

    PubMed

    Brocklehurst, Robert J; Crumpton, Nick; Button, Evie; Asher, Robert J

    2016-01-01

    Afrotheria is a strongly supported clade within placental mammals, but morphological synapomorphies for the entire group have only recently come to light. Soft tissue characters represent an underutilized source of data for phylogenetic analysis, but nonetheless provide features shared by some or all members of Afrotheria. Here, we investigate the developmental anatomy of Potamogale velox (Tenrecidae) with histological and computerized tomographic data at different ontogenetic ages, combined with osteological data from other mammals, to investigate patterns of cranial arterial supply and the distribution of the coronoid canal. Potamogale is atypical among placental mammals in exhibiting a small superior stapedial artery, a primary supply of the posterior auricular by the posterior stapedial artery, and the development of vascular plexuses (possibly with relevance for heat exchange) in the posterior and dorsal regions of its neck. In addition, the posterior aspect of Meckel's cartilage increases its medial deflection in larger embryonic specimens as the mandibular condyle extends mediolaterally during embryogenesis. We also map the distribution of the coronoid canal across mammals, and discuss potential confusion of this feature with alveoli of the posterior teeth. The widespread distribution of the coronoid canal among living and fossil proboscideans, sirenians, and hyracoids supports previous interpretations that a patent coronoid canal is a synapomorphy of paenungulates, but not afrotherians as a whole. PMID:27114870

  18. The ciliary transitional zone and nephrocystins.

    PubMed

    Shiba, Dai; Yokoyama, Takahiko

    2012-02-01

    Loss of cilia and ciliary protein causes various abnormalities (called ciliopathy), including situs inversus, renal cystic diseases, polydactyly and dysgenesis of the nervous system. Renal cystic diseases are the most frequently observed symptoms in ciliopathies. Cilia are microtubule-based organelles with the following regions: a ciliary tip, shaft, transitional zone and basal body/mother centriole. Joubert syndrome (JBTS), Meckel Gruber syndrome (MKS) and Nephronophthisis (NPHP) are overlapping syndromes. Recent studies show that JBST and MKS responsible gene products are localized in the transitional zone of the cilia, where they function as a diffusion barrier, and control protein sorting and ciliary membrane composition. Nephrocystins are gene products of NPHP responsible genes, and at least 11 genes have been identified. Although some nephrocystins interact with JBST and MKS proteins, proteomic analysis suggests that they do not form a single complex. Localization analysis reveals that nephrocystins can be divided into two groups. Group I nephrocystins are localized in the transitional zone, whereas group II nephrocystins are localized in the Inv compartment. Homologs of group I nephrocystins, but not group II nephrocystins, have been reported in C. reinhardtii and C. elegans. In this review, we summarize the structure of the ciliary base of C. reinhardtii, C. elegans and mammalian primary cilia, and discuss function of nephrocystins. We also propose a new classification of nephrocystins. PMID:22169048

  19. Combined function of HoxA and HoxB clusters in neural crest cells.

    PubMed

    Vieux-Rochas, Maxence; Mascrez, Bénédicte; Krumlauf, Robb; Duboule, Denis

    2013-10-01

    The evolution of chordates was accompanied by critical anatomical innovations in craniofacial development, along with the emergence of neural crest cells. The potential of these cells to implement a craniofacial program in part depends upon the (non-)expression of Hox genes. For instance, the development of jaws requires the inhibition of Hox genes function in the first pharyngeal arch. In contrast, Hox gene products induce craniofacial structures in more caudal territories. To further investigate which Hox gene clusters are involved in this latter role, we generated HoxA;HoxB cluster double mutant animals in cranial neural crest cells. We observed the appearance of a supernumerary dentary-like bone with an endochondral ossification around a neo-Meckel's cartilage matrix and an attachment of neo-muscle demonstrating that HoxB genes enhance the phenotype induced by the deletion of the HoxA cluster alone. In addition, a cervical and hypertrophic thymus was associated with the supernumerary dentary-like bone, which may reflect its ancestral position near the filtrating system. Altogether these results show that the HoxA and HoxB clusters cooperated during evolution to lead to present craniofacial diversity. PMID:23850771

  20. Idiopathic pulmonary hemosiderosis: alveoli are an answer to anemia.

    PubMed

    Bhatia, S; Tullu, M S; Vaideeswar, P; Lahiri, K R

    2011-01-01

    Idiopathic pulmonary hemosiderosis (IPH) is a rare disorder (triad of iron-deficiency anemia, hemoptysis, and alveolar infiltrates). A 3-year-old male presented with mild fever, breathlessness, dry cough, and bluish nail discoloration for 8 days. He had required five blood transfusions in the past 1 year (last transfusion was given 4 months ago). He had a respiratory rate of 58/min with respiratory distress, cyanosis, and grade III clubbing. Respiratory system examination was normal. Several previous reports of hemoglobin were as low as 3.6 g/dl with hypochromic and microcytic anemia. There were transient increases in the hemoglobin and normalization of red cell morphology with blood transfusions. Serum iron, G6PD enzyme assay, hemoglobin electrophoresis, the sickling test, Coomb's test, stool and urine analysis, and a Meckel's scan were normal. HIV antibody and dsDNA were negative. The chest radiograph revealed symmetrical patchy infiltrates sparing lung apices (confirmed on high-resolution computed tomography). Lung biopsy diagnosed pulmonary hemosiderosis (interstitial lung disease with hemosiderin-laden macrophages scattered in the alveoli and areas of fibrosis in the alveolar septa). The patient showed marked clinical improvement in 10 days of therapy with prednisolone. IPH should be listed in the differential diagnosis of a child presenting with unexplained hypochromic, microcytic anemia and respiratory symptoms. PMID:21206122

  1. Multiple myeloma presenting with unilateral abducens and trigeminal nerve palsies.

    PubMed

    Thiruvengadam, Sushrut S; Prayson, Richard A

    2016-04-01

    Petrous apex masses can manifest with neurologic symptoms due to their involvement of various structures, including cranial nerves (CN) V and VI. The differential diagnosis of petrous masses is broad and includes a variety of both non-neoplastic and neoplastic lesions. We report a rare case of multiple myeloma confined to the right petrous apex, presenting with ipsilateral abducens and trigeminal nerve palsies. A 63-year-old woman presented with a 6-8 week history of facial numbness and a 2 week history of diplopia, with examination showing right-sided facial hypoesthesia in the CN V1-V3 region and right-sided lateral rectus palsy. MRI of the brain showed a solitary 2.0 cm lesion confined to the right petrous apex involving the right cavernous internal carotid artery and Meckel's cave. A transnasal biopsy showed a proliferation of plasmacytoid cells, which showed diffuse immunoreactivity with antibodies to CD138 and kappa, consistent with a plasma cell dyscrasia. A bone scan subsequently revealed multiple lytic bone lesions involving the skull, left humerus, bilateral femurs and possibly the L4 vertebral body. Bone marrow biopsy and serum laboratory results confirmed the diagnosis of kappa-type multiple myeloma. Although rare, multiple myeloma may initially present with petrous involvement and associated cranial nerve deficits. PMID:26602603

  2. MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.

    PubMed

    Bader, Ingrid; Decker, E; Mayr, J A; Lunzer, V; Koch, J; Boltshauser, E; Sperl, W; Pietsch, P; Ertl-Wagner, B; Bolz, H; Bergmann, C; Rittinger, O

    2016-08-01

    Joubert syndrome (JS) is a clinically and genetically heterogeneous ciliopathy characterized by episodic hyperpnea and apnea, hypotonia, ataxia, cognitive impairment and ocular motor apraxia. The "molar tooth sign" is pathognomonic of this condition. Mutations in the MKS1 gene are a major cause of Meckel-Gruber syndrome (MKS), the most common form of syndromic neural tube defects, frequently resulting in perinatal lethality. We present the phenotype and genotype of a child with severe JS and agenesis of the corpus callosum (ACC). In our patient, a next generation sequencing (NGS) approach revealed the following two variants of the MKS1 gene: first, a novel missense variant [ c.240G > T (p.Trp80Cys)], which affects a residue that is evolutionarily highly conserved in mammals and ciliates; second, a 29 bp deletion in intron 15 [c.1408-35_1408-7del29], a founder mutation, which in a homozygous state constitutes the major cause of MKS in Finland. We review the MKS1-variants in all of the eleven JS patients reported to date and compare these patients to our case. To our knowledge, this is the first patient with Joubert syndrome and agenesis of the corpus callosum where a potentially causal genotype is provided. PMID:27377014

  3. Metastatic Mantle Cell Lymphoma to the Pituitary Gland: Case Report and Literature Review

    PubMed Central

    Wang, Arthur; Carberry, Nathan; Solli, Elena; Kleinman, George; Tandon, Adesh

    2016-01-01

    We present an unusual case of a metastatic mantle cell lymphoma (MCL) to the pituitary gland. The patient had a known history of MCL for which she previously received chemotherapy. She presented with new-onset diplopia and confusion, and reported a history of progressive vision blurriness associated with headache, nausea, and vomiting. MRI of the brain showed an enhancing lesion within the sella turcica involving the cavernous sinuses bilaterally, extending into Meckel's cave on the left, and abutting the optic nerves bilaterally. Following surgical excision, histopathology revealed the tumor to be a MCL. Metastatic pituitary tumors are rare and have been estimated to make up 1% of tumors discovered in the sellar region. The two most common secondary metastatic lesions to the sella are breast and lung carcinoma followed by prostate, renal cell, and gastrointestinal carcinoma. Metastatic lymphoma to the pituitary gland is especially rare and is estimated to constitute 0.5% of all metastatic tumors to the sella turcica. To our knowledge, this is the first reported case of MCL metastasizing to the pituitary gland. PMID:26933415

  4. Fragmentation dynamics of Ar2^+ dimers in intense laser fields

    NASA Astrophysics Data System (ADS)

    Magrakvelidze, M.; Wu, J.; Dörner, R.; Thumm, U.

    2012-06-01

    We studied the fragmentation dynamics of the Ar2 dimers in 790 nm pump and 1400 nm probe pulses with intensities of 10^14 W/cm^2 by analyzing kinetic energy release (KER) spectra as a function of the pump probe delay. The KER spectra are measured by detecting Ar-ion fragments in a COLTRIMS [1] setup and are compared with model calculations based on the numerical propagations of the time-dependent Schr"odinger equation [2]. The measured spectra are best reproduced by two-state calculations that include the adiabatic electronic states I(1/2)u and II(1/2)g of Ar2^+, dipole coupled in the pump- and probe-laser electric fields. [4pt] [1] J. Wu, A. Vredenborg, B. Ulrich, L. Ph. H. Schmidt, M. Meckel, S. Voss, H. Sann, H. Kim, T. Jahnke, and R. D"orner, PRA 83, 061403(R) (2011) [0pt] [2] M. Magrakvelidze, F. He, Th. Niederhausen, I. V. Litvinyuk, and U. Thumm, PRA 79, 033410 (2009).

  5. Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies

    PubMed Central

    Iannicelli, Miriam; Brancati, Francesco; Mougou-Zerelli, Soumaya; Mazzotta, Annalisa; Thomas, Sophie; Elkhartoufi, Nadia; Travaglini, Lorena; Gomes, Céline; Ardissino, Gian Luigi; Bertini, Enrico; Boltshauser, Eugen; Castorina, Pierangela; D'Arrigo, Stefano; Fischetto, Rita; Leroy, Brigitte; Loget, Philippe; Bonnière, Maryse; Starck, Lena; Tantau, Julia; Gentilin, Barbara; Majore, Silvia; Swistun, Dominika; Flori, Elizabeth; Lalatta, Faustina; Pantaleoni, Chiara; Johannes.Penzien; Grammatico, Paola; Dallapiccola, Bruno; Gleeson, Joseph G.; Attie-Bitach, Tania; Valente, Enza Maria

    2010-01-01

    Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genetic overlap, being allelic at several loci. One of the most interesting gene is TMEM67, encoding the transmembrane protein meckelin. We performed mutation analysis of TMEM67 in 341 probands, including 265 JSRD representative of all clinical subgroups and 76 MKS fetuses. We identified 33 distinct mutations, of which 20 were novel, in 8/10 (80%) JS with liver involvement (COACH phenotype) and 12/76 (16%) MKS fetuses. No mutations were found in other JSRD subtypes, confirming the strong association between TMEM67 mutations and liver involvement. Literature review of all published TMEM67 mutated cases was performed to delineate genotype-phenotype correlates. In particular, comparison of the types of mutations and their distribution along the gene in lethal versus non lethal phenotypes showed in MKS patients a significant enrichment of missense mutations falling in TMEM67 exons 8 to 15, especially when in combination with a truncating mutation. These exons encode for a region of unknown function in the extracellular domain of meckelin. PMID:20232449

  6. Urinary system birth defects in surgically treated infants in Sarajevo region of Bosnia and Herzegovina.

    PubMed

    Alicelebić, Selma; Kapić, Dina; Mornjaković, Zakira

    2008-05-01

    Congenital anomalies of the urinary system are relatively common anomalies. In Bosnia and Herzegovina there is no existent unique evidence of congenital anomalies and registries. The aim of this study was to obtain the frequency of different urinary tract anomalies types and their sex distribution among cases hospitalized in the Department of Pediatric Surgery of the University of Sarajevo Clinics Centre, Bosnia and Herzegovina, during the period from January 2002 to December 2006. Retrospective study was carried out on the basis of clinical records. Standard methods of descriptive statistics were performed for the data analysis. Among 289 patients that were surgically treated 62,37% of the patients were male patients, while 37,63% were female patients. Twenty nine different urinary system anomalies types were found in this study. These were: vesicoureteral reflux (99 cases or 30,75%), hypospadias (62 cases or 19,26%), pelviureteric junction obstruction (42 cases or 13,04%), megaureter (35 cases or 10,87%), duplex pelvis and ureter (16 cases or 4,97%), bladder diverticulum (8 cases or 2,48%), ureterocoele (7 cases or 2,17%), stenosis of the external urethral opening (6 cases or 1,86%), ectopic kidney, duplex kidney and pelvis (each 5 cases or 1,55%), polycystic kidneys and urethral stricture (each 4 cases or 1,24%), multicystic kidney (3 cases or 0,93%), kidney agenesis, ureter agenesis, urethral diverticulum, ectopic ureter, horseshoe kidney and fetal kidney (each 2 cases or 0,62%), renal aplasia, urethral atresia, renal cyst, urachal cyst, epispadias, bladder exstrophy, renal hypoplasia, renal malrotation and Prune-Belly syndrome (each 1 case or 0,31%). According to this study, urinary tract anomalies were more common in male than in female patients (62,37%). Generally, the most frequent anomaly type was vesicoureteral reflux in total number of 99 cases, and in females (66 cases), but hypospadias was the most common anomaly in males (62 cases). The anomalies of

  7. Emergency surgery in chronic intestinal pseudo-obstruction due to mitochondrial neurogastrointestinal encephalomyopathy: case reports.

    PubMed

    Granero Castro, Pablo; Fernández Arias, Sebastián; Moreno Gijón, María; Alvarez Martínez, Paloma; Granero Trancón, José; Álvarez Pérez, Jose Antonio; Lamamie Clairac, Eduardo; González González, Juan José

    2010-01-01

    Chronic intestinal pseudo-obstruction (CIPO) is a syndrome characterized by recurrent clinical episodes of intestinal obstruction in the absence of any mechanical cause occluding the gut. There are multiple causes related to this rare syndrome. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is one of the causes related to primary CIPO. MNGIE is caused by mutations in the gene encoding thymidine phosphorylase. These mutations lead to an accumulation of thymidine and deoxyuridine in blood and tissues of these patients. Toxic levels of these nucleosides induce mitochondrial DNA abnormalities leading to an abnormal intestinal motility.Herein, we described two rare cases of MNGIE syndrome associated with CIPO, which needed surgical treatment for gastrointestinal complications. In one patient, intra-abdominal hypertension and compartment syndrome generated as a result of the colonic distension forced to perform emergency surgery. In the other patient, a perforated duodenal diverticulum was the cause that forced to perform surgery. There is not a definitive treatment for MNGIE syndrome and survival does not exceed 40 years of age. Surgery only should be considered in some selected patients. PMID:21143863

  8. Vascular rings.

    PubMed

    Backer, Carl L; Mongé, Michael C; Popescu, Andrada R; Eltayeb, Osama M; Rastatter, Jeffrey C; Rigsby, Cynthia K

    2016-06-01

    The term vascular ring refers to congenital vascular anomalies of the aortic arch system that compress the esophagus and trachea, causing symptoms related to those two structures. The most common vascular rings are double aortic arch and right aortic arch with left ligamentum. Pulmonary artery sling is rare and these patients need to be carefully evaluated for frequently associated tracheal stenosis. Another cause of tracheal compression occurring only in infants is the innominate artery compression syndrome. In the current era, the diagnosis of a vascular ring is best established by CT imaging that can accurately delineate the anatomy of the vascular ring and associated tracheal pathology. For patients with a right aortic arch there recently has been an increased recognition of a structure called a Kommerell diverticulum which may require resection and transfer of the left subclavian artery to the left carotid artery. A very rare vascular ring is the circumflex aorta that is now treated with the aortic uncrossing operation. Patients with vascular rings should all have an echocardiogram because of the incidence of associated congenital heart disease. We also recommend bronchoscopy to assess for additional tracheal pathology and provide an assessment of the degree of tracheomalacia and bronchomalacia. The outcomes of surgical intervention are excellent and most patients have complete resolution of symptoms over a period of time. PMID:27301603

  9. In Vitro MRV-based Hemodynamic Study of Complex Helical Flow in a Patient-specific Jugular Model

    NASA Astrophysics Data System (ADS)

    Kefayati, Sarah; Acevedo-Bolton, Gabriel; Haraldsson, Henrik; Saloner, David

    2014-11-01

    Neurointerventional Radiologists are frequently requested to evaluate the venous side of the intracranial circulation for a variety of conditions including: Chronic Cerebrospinal Venous Insufficiency thought to play a role in the development of multiple sclerosis; sigmoid sinus diverticulum which has been linked to the presence of pulsatile tinnitus; and jugular vein distension which is related to cardiac dysfunction. Most approaches to evaluating these conditions rely on structural assessment or two dimensional flow analyses. This study was designed to investigate the highly complex jugular flow conditions using magnetic resonance velocimetry (MRV). A jugular phantom was fabricated based on the geometry of the dominant jugular in a tinnitus patient. Volumetric three-component time-resolved velocity fields were obtained using 4D PC-MRI -with the protocol enabling turbulence acquisition- and the patient-specific pulsatile waveform. Flow was highly complex exhibiting regions of jet, high swirling strength, and strong helical pattern with the core originating from the focal point of the jugular bulb. Specifically, flow was analyzed for helicity and the level of turbulence kinetic energy elevated in the core of helix and distally, in the post-narrowing region.

  10. Feasibility of full-spectrum endoscopy: Korea’s first full-spectrum endoscopy colonoscopic trial

    PubMed Central

    Song, Jeong-Yeop; Cho, Youn Hee; Kim, Mi A; Kim, Jeong-Ae; Lee, Chun Tek; Lee, Moon Sung

    2016-01-01

    AIM: To evaluate the full-spectrum endoscopy (FUSE) colonoscopy system as the first report on the utility thereof in a Korean population. METHODS: We explored the efficacy of the FUSE colonoscopy in a retrospective, single-center feasibility study performed between February 1 and July 20, 2015. A total of 262 subjects (age range: 22-80) underwent the FUSE colonoscopy for colorectal cancer screening, polyp surveillance, or diagnostic evaluation. The cecal intubation success rate, the polyp detection rate (PDR), the adenoma detection rate (ADR), and the diverticulum detection rate (DDR), were calculated. Also, the success rates of therapeutic interventions were evaluated with biopsy confirmation. RESULTS: All patients completed the study and the success rates of cecal and terminal ileal intubation were 100% with the FUSE colonoscope; we found 313 polyps in 142 patients and 173 adenomas in 95. The overall PDR, ADR and DDR were 54.2%, 36.3%, and 25.2%, respectively, and were higher in males, and increased with age. The endoscopists and nurses involved considered that the full-spectrum colonoscope improved navigation and orientation within the colon. No colonoscopy was aborted because of colonoscope malfunction. CONCLUSION: The FUSE colonoscopy yielded a higher PDR, ADR, DDR than did traditional colonoscopy, without therapeutic failure or complications, showing feasible, effective, and safe in this first Korean trial. PMID:26937150

  11. Reproductive system of female scorpion: a partial review.

    PubMed

    Warburg, M R

    2010-10-01

    The female scorpion ovariuterus was examined in 10 scorpion species belonging to five families: Buthidae, Vaejovidae, Scorpionidae, Urodacidae, and Diplocentridae. Two main patterns of development are known in scorpions: (1) The apoikogenic type with an ovariuterus containing yolk-rich eggs housed in follicles. This type is found in many scorpion taxa (largely buthids). A peculiar case of apoikogenic ovariuterus is a "beaded" ovariuterus where most of the ova's embryogenesis takes place inside the ovariuterus rather than on pedicels situated on the external wall of the ovariuterus as in most buthids. This type is found in a few scorpion species. (2) The katoikogenic type with an ovariuterus where the embryo develops in a diverticulum composed of four parts: a stalk (pedicel), a thickened collar, a conical portion containing the ovum, and an appendix containing the oral feeding apparatus where the embryos' chelicerae grip a "teat"-like structure, described in four families: Hemiscorpiidae, Scorpionidae, Urodacidae, and Diplocentridae. There are three kinds of diverticulae: small rudimentary finger-like diverticulae, embryonic (ED) large projections, and postpartum diverticulae (PPD) empty diverticulae, which are remnants after parturition. The subject is reviewed and its bearing on reproduction in scorpions are discussed. PMID:20687160

  12. Esophageal disorders in 61 horses. Results of nonsurgical and surgical management.

    PubMed

    Craig, D R; Shivy, D R; Pankowski, R L; Erb, H N

    1989-01-01

    Obstructive esophageal disorders in 61 horses included feed or foreign body impaction (27 horses), strictures (18 horses), perforations (11 horses), and diverticula (5 horses). Horses with feed impaction were treated nonsurgically (25 horses) or by esophagotomy (2 horses). Survival to discharge was 78%, and 37% of these had persistent chronic obstruction at home. Long-term survival was 52%. Long-term survival of nine horses treated nonsurgically for esophageal strictures was 22%; for nine horses treated surgically it was 44%. Long-term survival of horses treated nonsurgically was significantly better in acute than chronic strictures. Surgical repair of esophageal mural strictures was more successful than repair of annular or mucosal strictures. One third of the horses with strictures were foals. Long-term survival for horses with strictures was 33%. Long-term survival was higher for the horses with perforations managed surgically (2 of 4) than nonsurgically (0 of 7). Long-term survival for this group was 18%. One esophageal diverticulum was managed nonsurgically, and four were treated surgically; all horses survived long term. Complications of obstructive esophageal disorders included aspiration pneumonia, chronic obstruction, esophageal mucosal ulceration, postoperative infection, pleuritis, laminitis, laryngeal paralysis, and Horner's syndrome. PMID:2513678

  13. Barium swallow study in routine clinical practice: a prospective study in patients with chronic cough*,**

    PubMed Central

    Nin, Carlos Shuler; Marchiori, Edson; Irion, Klaus Loureiro; Paludo, Artur de Oliveira; Alves, Giordano Rafael Tronco; Hochhegger, Daniela Reis; Hochhegger, Bruno

    2013-01-01

    OBJECTIVE: To assess the routine use of barium swallow study in patients with chronic cough. METHODS: Between October of 2011 and March of 2012, 95 consecutive patients submitted to chest X-ray due to chronic cough (duration > 8 weeks) were included in the study. For study purposes, additional images were obtained immediately after the oral administration of 5 mL of a 5% barium sulfate suspension. Two radiologists systematically evaluated all of the images in order to identify any pathological changes. Fisher's exact test and the chi-square test for categorical data were used in the comparisons. RESULTS: The images taken immediately after barium swallow revealed significant pathological conditions that were potentially related to chronic cough in 12 (12.6%) of the 95 patients. These conditions, which included diaphragmatic hiatal hernia, esophageal neoplasm, achalasia, esophageal diverticulum, and abnormal esophageal dilatation, were not detected on the images taken without contrast. After appropriate treatment, the symptoms disappeared in 11 (91.6%) of the patients, whereas the treatment was ineffective in 1 (8.4%). We observed no complications related to barium swallow, such as contrast aspiration. CONCLUSIONS: Barium swallow improved the detection of significant radiographic findings related to chronic cough in 11.5% of patients. These initial findings suggest that the routine use of barium swallow can significantly increase the sensitivity of chest X-rays in the detection of chronic cough-related etiologies. PMID:24473762

  14. [Vesicovaginal fistula. Still a daily reality in Africa. Apropos of 89 cases].

    PubMed

    Ribault, L; Vergos, M; Barthe, B L; Ribault, A

    1989-05-01

    Vesico-vaginal fistulae (VVF) are still a daily occurrence in Africa. Obstetrical causes are the most frequent. This severe disability requires that everything be implemented to obtain a leak-free closure of the pathological opening. The authors report their experience with 89 cured cases of VVF. Except for 2 cases cured with an abdominal approach, the Moir technique gave good results in 78 cases, for midline, moderate size, fistulae. In 3 instances, closure of the vagina alone was satisfactory. There were 10 recurrences, cured 9 times at the second operation and once at the third. 3 recurrences came from other institutions and were cured after 4 and 5 successive procedures. In 6 instances, for fistulae close to 5 cm or larger and located in areas difficult to reach, the authors have developed a technique of vaginal closure alone using a turned-over, undetermined vaginal flap creating a leak-free diverticulum. No recurrences have been observed with this technique. PMID:2544977

  15. Pathophysiology and treatment of patients with globus sensation--from the viewpoint of esophageal motility dysfunction.

    PubMed

    Manabe, Noriaki; Tsutsui, Hideaki; Kusunoki, Hiroaki; Hata, Jiro; Haruma, Ken

    2014-01-01

    "Globus sensation" is often described as the sensation of a lump in the throat associated with dry swallowing or the need for dry swallowing, which disappears completely during eating or drinking and for which no organic cause can be established. Due to the uncertain etiology of "globus sensation", it remains difficult to establish standard treatment strategies for affected patients. Lately most attention has been focused on gastroesophageal reflux disease and several reports have indicated that there is a close relationship between esophageal acid reflux and globus sensation. Nowadays, empirical therapy with a high dose of a proton pump inhibitor (PPI) is considered to be indicated for patients with globus sensation, after excluding organic diseases such as pharyngeal cancer, Zenker's diverticulum, or thyroid enlargement. If patients are nonresponsive to PPI therapy, evaluation of esophageal motility should be done. In our recent study, 47.9% had abnormal esophageal motility, with the most common esophageal motility abnormality being an ineffective esophageal motility in PPI-resistant patients with globus sensation. This suggests that prokinetics alone or adding prokinetics to PPI should be the treatment to be considered, although few studies have investigated the efficacy of prokinetics in the treatment of patients with globus sensation. If patients without any esophageal motility dysfunctions are nonresponsive to PPI therapy, either cognitive-behavioral therapy, anti-depressants, or gabapentin could be helpful, although further well-designed, randomized controlled large-scale studies will be necessary to determine the effectiveness of each treatment strategy on patients with globus sensation. PMID:26081369

  16. Diverticula of Kommerell and Aberrant Subclavian Arteries Complicated by Aneurysms

    SciTech Connect

    Fisher, R. G. Whigham, C. J.; Trinh, C.

    2005-06-15

    This is a retrospective evaluation of the incidence of aberrant subclavian arteries (ASAs) and diverticula of Kommerell, as well as the occurrence and significance of associated aneurysms. Thoracic aortograms obtained during a 12.5-year period were reviewed, seeking the presence of aberrant right and left subclavian arteries (ARSAs/ALSAs), diverticula of Kommerell, and the incidence of associated aortic aneurysms. Several cases were evaluated with computed tomography concomitantly. Results were correlated with a literature review. Twenty-two ASAs were identified. Nineteen were on the right (ARSAs) and three were on the left (ALSAs). A diverticulum of Kommerell (DOK) was also present on the right in seven and on the left in three. Five of these patients had complicating aneurysms. Four of these were associated with ARSAs and their diverticula. Two were atherosclerotic; one was a limited dissection and one of uncertain etiology was ruptured. One additional aneurysm (atherosclerotic) involved an ALSA/DOK. The patient with the ruptured aneurysm died in surgery; three were managed conservatively because of concomitant disease; and one is being followed because of the small size (2.5 cm) of the aneurysm. ARSAs are relatively uncommon and ALSAs are rare. Both ARSA and ALSA are frequently associated with a DOK. Aneurysms rarely involve ASAs (with or without a DOK), but they are associated with a high mortality rate if they are not discovered before rupture. Early diagnosis plus surgical and/or endovascular management can be lifesaving.

  17. Clear Cell Adenocarcinoma of the Urethra: Review of the Literature

    PubMed Central

    Venyo, Anthony Kodzo-Grey

    2015-01-01

    Background. Clear cell adenocarcinoma of the urethra (CCAU) is extremely rare and a number of clinicians may be unfamiliar with its diagnosis and biological behaviour. Aims. To review the literature on CCAU. Methods. Various internet databases were used. Results/Literature Review. (i) CCAU occurs in adults and in women in the great majority of cases. (ii) It has a particular association with urethral diverticulum, which has been present in 56% of the patients; is indistinguishable from clear cell adenocarcinoma of the female genital tract but is not associated with endometriosis; and probably does not arise by malignant transformation of nephrogenic adenoma. (iii) It is usually, readily distinguished from nephrogenic adenoma because of greater cytological a-typicality and mitotic activity and does not stain for prostate-specific antigen or prostatic acid phosphatase. (iv) It has been treated by anterior exenteration in women and cystoprostatectomy in men and at times by radiotherapy; chemotherapy has rarely been given. (v) CCAU is aggressive with low 5-year survival rates. (vi) There is no consensus opinion of treatment options that would improve the prognosis. Conclusions. Few cases of CCAU have been reported. Urologists, gynaecologists, pathologists, and oncologists should report cases of CCAU they encounter and enter them into a multicentric trial to determine the best treatment options that would improve the prognosis. PMID:25685552

  18. First records of Enchytraeidae (Annelida, Clitellata) from the Three Parallel Rivers region.

    PubMed

    Chen, Jing; Jiang, Wanxiang; Xie, Zhicai

    2016-01-01

    The Three Parallel Rivers region is not only an important World Natural Heritage area but also one of the hotspots of world biodiversity with many endemic organisms. However, little is known about the soil fauna of this region, and nothing about enchytraeids. Here we describe two species from the Laojun Mountain, one of the eight eminent mountain chains in this region, Chamaedrilus cf. ozensis Torii, 2015 and Mesenchytraeus laojunensis sp. nov. The latter belongs to a group of Mesenchytraeus species characterized by spermathecae with one ampullar diverticulum and a communication with the oesophagus, and is thus far the southernmost member of this genus in China. It has two exceptional traits within Mesenchytraeus: a large sperm funnel (more than 2000 µm in length) and a subterminal attachment of the vas deferens to the atrium. In addition, it is distinguished from the other congeners within this group by coelomocytes with distinct refractile vesicles, five pairs of preclitellar nephridia, and the presence of abundant and flame-shaped sperm bundles in sperm sacs, which extend backwards into XVII-XXII. PMID:27394495

  19. Sigmoid diverticulitis: US findings

    PubMed Central

    2013-01-01

    Acute diverticulitis (AD) results from inflammation of a colonic diverticulum. It is the most common cause of acute left lower-quadrant pain in adults and represents a common reason for acute hospitalization, as it affects over half of the population over 65 years with a prevalence that increases with age. Although 85% of colonic diverticulitis will recover with a nonoperative treatment, some patients may have complications such as abscesses, fistulas, obstruction, and /or perforation at presentation. For these reasons, different classifications were introduced through times to help clinicians to develop a correct diagnosis and guide the treatment and for the same reasons imaging is used in most cases both to realise a differential diagnosis and to guide the therapeutic management. US and CT are both usefull in diagnosis of diverticolitis, and their sensibility and specificity are similar. However CT scanning is essential for investigating complicated diverticular disease especially where there are diffuse signs and clinical suspicion of secondary peritonitis; instead in most uncomplicated cases the experienced sonographer may quickly confirm a diagnosis guided by the clinical signs. US is to be recommended in premenopausal women, and in young people to reduce dose exposure. PMID:23902791

  20. Sigmoid diverticulitis: US findings.

    PubMed

    Mazzei, Maria Antonietta; Cioffi Squitieri, Nevada; Guerrini, Susanna; Stabile Ianora, Amato Antonio; Cagini, Lucio; Macarini, Luca; Giganti, Melchiore; Volterrani, Luca

    2013-07-15

    Acute diverticulitis (AD) results from inflammation of a colonic diverticulum. It is the most common cause of acute left lower-quadrant pain in adults and represents a common reason for acute hospitalization, as it affects over half of the population over 65 years with a prevalence that increases with age. Although 85% of colonic diverticulitis will recover with a nonoperative treatment, some patients may have complications such as abscesses, fistulas, obstruction, and /or perforation at presentation. For these reasons, different classifications were introduced through times to help clinicians to develop a correct diagnosis and guide the treatment and for the same reasons imaging is used in most cases both to realise a differential diagnosis and to guide the therapeutic management. US and CT are both usefull in diagnosis of diverticolitis, and their sensibility and specificity are similar. However CT scanning is essential for investigating complicated diverticular disease especially where there are diffuse signs and clinical suspicion of secondary peritonitis; instead in most uncomplicated cases the experienced sonographer may quickly confirm a diagnosis guided by the clinical signs. US is to be recommended in premenopausal women, and in young people to reduce dose exposure. PMID:23902791

  1. Review of esophageal injuries and stenosis: Lessons learn and current concepts of management

    PubMed Central

    Ramareddy, Raghu Sampalli; Alladi, Anand

    2016-01-01

    Aim: To review the patients with esophageal injuries and stenosis with respect to their etiology, clinical course, management, and the lessons learnt from these. Materials and Methods: Retrospective descriptive observation review of children with esophageal injuries and stenosis admitted between January 2009 and April 2015. Results: Eighteen children with esophageal injuries of varied etiology were managed and included, seven with corrosive injury, five with perforation due to various causes, three with mucosal erosion, two with trachea esophageal fistula (TEF), and one wall erosion. The five children who had perforation were due to poststricture dilatation in a child with esophageal atresia and secondary to foreign body impaction or its attempted retrieval in four. Alkaline button cell had caused TEF in two. Three congenital esophageal stenosis (CES) had presented with dysphagia and respiratory tract infection. Six corrosive stricture and two CES responded to dilatation alone and one each of them required surgery. Four of the children with esophageal perforation were detected early and required drainage procedure (1), diversion (1), and medical management (2). Pseudo diverticulum was managed expectantly. Among TEF, one had spontaneous closure and other one was lost to follow-up. All the remaining nineteen children have recovered well except one CES had mortality. Conclusion: Esophageal injuries though rare can be potentially devastating and life-threatening. PMID:27365909

  2. Modification of the Koyanagi Technique for the Single-Stage Repair of Proximal Hypospadias.

    PubMed

    Chen, Yuhong; Zhang, Jinming; Ji, Chenyang; Liang, Weiqiang; Pan, Shujuan; Wu, Biying

    2016-06-01

    We describe a modification of the Koyanagi technique for hypospadias in an attempt to reduce complications and improve results. Between January 2005 and July 2012, 21 patients underwent treatment of proximal hypospadias using a modified hypospadias repair. The procedure involved making a U-incision similar to that in a Thiersch-Duplay repair to preserve the blood supply to the tubular neourethra. The neourethra was reconstructed by island penile skin. An M-incision was made in the glans, and the meatus was attached to tip of glans. Flaps were harvested from both sides of the penis preventing postoperative penile turn. Cosmetic and functional, long-term (mean, 12 months) recovery was excellent. Complications consisted of 3 cases of urethrocutaneous fistula (14.2%), which were corrected surgically, and 2 cases of penile skin necrosis. There were no instances of meatal stenosis, diverticulum, or urethral stricture. Bifid scrotum was present in 6 patients, and associated penoscrotal transposition was present in 15 patients. Both of these associated defects were corrected at the time of surgery. The modified technique permits 1-stage repair of proximal hypospadias with a low complication rate, the satisfactory recovery. PMID:27176562

  3. The non-avian theropod quadrate I: standardized terminology with an overview of the anatomy and function.

    PubMed

    Hendrickx, Christophe; Araújo, Ricardo; Mateus, Octávio

    2015-01-01

    The quadrate of reptiles and most other tetrapods plays an important morphofunctional role by allowing the articulation of the mandible with the cranium. In Theropoda, the morphology of the quadrate is particularly complex and varies importantly among different clades of non-avian theropods, therefore conferring a strong taxonomic potential. Inconsistencies in the notation and terminology used in discussions of the theropod quadrate anatomy have been noticed, including at least one instance when no less than eight different terms were given to the same structure. A standardized list of terms and notations for each quadrate anatomical entity is proposed here, with the goal of facilitating future descriptions of this important cranial bone. In addition, an overview of the literature on quadrate function and pneumaticity in non-avian theropods is presented, along with a discussion of the inferences that could be made from this research. Specifically, the quadrate of the large majority of non-avian theropods is akinetic but the diagonally oriented intercondylar sulcus of the mandibular articulation allowed both rami of the mandible to move laterally when opening the mouth in many of theropods. Pneumaticity of the quadrate is also present in most averostran clades and the pneumatic chamber-invaded by the quadrate diverticulum of the mandibular arch pneumatic system-was connected to one or several pneumatic foramina on the medial, lateral, posterior, anterior or ventral sides of the quadrate. PMID:26401455

  4. Differences between human and mouse alpha-fetoprotein expression during early development

    PubMed Central

    JONES, ELIZABETH A.; CLEMENT-JONES, MARK; JAMES, OLIVER F. W.; WILSON, DAVID I.

    2001-01-01

    Alpha-fetoprotein (AFP) is the major serum protein during development. AFP is one of the earliest proteins to be synthesised by the embryonic liver. The synthesis of AFP decreases dramatically after birth and only trace amounts are expressed in the adult liver. The tissue distribution of AFP in early human embryogenesis has not been defined. We have studied the expression pattern of AFP mRNA in human and mouse embryos by in situ hybridisation. In humans, AFP is expressed in the hepatic diverticulum at 26 d postovulation as it differentiates from the foregut endoderm (i.e. in the most primitive hepatocytes). It is also expressed in the endoderm of the gastrointestinal tract and in the yolk sac at this age. AFP is subsequently expressed in the mesonephros and transiently in the developing pancreas. In the mouse, no expression of AFP was observed in the mesonephros but other sites of expression were similar. Thus AFP has a distinct temporospatial expression pattern during the embryonic period and this differs between human and mouse species. It is interesting that AFP is expressed by tumours such as primitive gastrointestinal, renal cell and pancreatic tumours as well as those of hepatocyte origin. This distribution reflects the sites of AFP expression during development. PMID:11430694

  5. Bladder Tumor in Women with Microscopic Hematuria: An Iranian Experience and a Review of the Literature

    PubMed Central

    Abbaszadeh, Shahin; Taheri, Saeed; Nourbala, Mohammad Hossein

    2009-01-01

    Aim. In this study we report our experience with microhematuria and its relation with bladder tumors in Iranian women. Materials and Methods. Overall 249 women were evaluated. Microscopic hematuria was defined as three or more red blood cells per high-power field on at least two different occasions. Patients with a history of gross hematuria or coagulation disorders, having organic diseases, urinary stones, urinary tract infections, nephrological diseases, and local lesions such as urethral caruncle were excluded from the study population. Final diagnosis of malignant tumors was done with cystoscopy and biopsy specimen pathological assessment in all cases. Results. Age for the study population was 49.7 ± 11.8 years. 95 (38%) of patients were identified during routine check up and presenting symptoms in other patients were frequency, dysuria, stress urge incontinence, urge incontinence, feeling of incomplete urine emptying, and flunk pain, respectively. Finally, 7 (2.8%) of study subjects were confirmed as having bladder tumors. One of tumor cases was diagnosed 24 months after initial assessments. Patients with bladder tumor were significantly older; more frequently had diverticulum in their bladder wall (P < .05). Conclusion. Female microscopic hematuria is relevant and deserves evaluations, especially in elderly patients. Patients whose reason for microhematuria would not be diagnosed at the initial evaluations should be followed. PMID:19639044

  6. Multidetector CT Enterography versus Double-Balloon Enteroscopy: Comparison of the Diagnostic Value for Patients with Suspected Small Bowel Diseases

    PubMed Central

    Guo, Qiaozhen; Zhao, Jianping; Liu, Mei; Liao, Guangquan; Chen, Nianjun; Tian, Dean; Wu, Xiaoli

    2016-01-01

    Aim. To compare the diagnostic value of multidetector CT enterography (MDCTE) and double-balloon enteroscopy (DBE) for patients with suspected small bowel diseases. Methods. From January 2009 to January 2014, 190 patients with suspected small bowel diseases were examined with MDCTE and DBE. The characteristics of the patients, detection rates, diagnostic yields, sensitivity, specificity, positive predictive value, and negative predictive value were described and analyzed. Results. The overall detection rates of DBE and MDCTE were 92.6% and 55.8%, respectively (P<0.05), while the overall diagnostic yields were 83.2% and 33.7%, respectively (P<0.05). The sensitivity, specificity, positive predictive value, and negative predictive value of DBE were all higher than those of MDCTE. DBE had a higher diagnostic yield for OGIB (87.3% versus 20.9%, P<0.05). The diagnostic yields of DBE were higher than those of MDCTE for inflammatory diseases, angioma/angiodysplasia, and diverticulums, while being not for gastrointestinal tumors/polyps. Conclusions. The diagnostic value of DBE for small bowel diseases is better than that of MDCTE as a whole, but if gastrointestinal tumors are suspected, MDCTE is also needed to gain a comprehensive and accurate diagnosis. PMID:26962305

  7. Multidetector CT Enterography versus Double-Balloon Enteroscopy: Comparison of the Diagnostic Value for Patients with Suspected Small Bowel Diseases.

    PubMed

    Wang, Jingjing; Guo, Qiaozhen; Zhao, Jianping; Liu, Mei; Liao, Guangquan; Chen, Nianjun; Tian, Dean; Wu, Xiaoli

    2016-01-01

    Aim. To compare the diagnostic value of multidetector CT enterography (MDCTE) and double-balloon enteroscopy (DBE) for patients with suspected small bowel diseases. Methods. From January 2009 to January 2014, 190 patients with suspected small bowel diseases were examined with MDCTE and DBE. The characteristics of the patients, detection rates, diagnostic yields, sensitivity, specificity, positive predictive value, and negative predictive value were described and analyzed. Results. The overall detection rates of DBE and MDCTE were 92.6% and 55.8%, respectively (P<0.05), while the overall diagnostic yields were 83.2% and 33.7%, respectively (P<0.05). The sensitivity, specificity, positive predictive value, and negative predictive value of DBE were all higher than those of MDCTE. DBE had a higher diagnostic yield for OGIB (87.3% versus 20.9%, P<0.05). The diagnostic yields of DBE were higher than those of MDCTE for inflammatory diseases, angioma/angiodysplasia, and diverticulums, while being not for gastrointestinal tumors/polyps. Conclusions. The diagnostic value of DBE for small bowel diseases is better than that of MDCTE as a whole, but if gastrointestinal tumors are suspected, MDCTE is also needed to gain a comprehensive and accurate diagnosis. PMID:26962305

  8. Nonrotation of Intestine: A Case Report

    PubMed Central

    Appaji, Ashwini Chamanahalli; Kulkarni, Roopa; Kadaba, Jayanthi S.

    2013-01-01

    Nonrotation of intestine is a congenital abnormality of the midgut which is due to error in the process of rotation. Errors in the 2nd and 3rd stage of rotation can lead to series of abnormalities in the form of malrotation and reversed rotation. As a consequence, the relative position of other organs likes caecum, intestine, meckel’s diverticulum changes. This can lead to missing diagnosis of common clinical conditions such as appendicitis. The incidence of nonrotation is 1:500. The congenital abnormality appears to be rare as this could be an incidental abnormality. The symptoms of nonrotation of intestine could be biliary vomiting, recurrent abdominal pain. This could be due to midgut volvulus and intestinal obstruction which happens as a consequence of nonrotation of the intestine. The investigations used for detection and confirmation are CT Imaging. Other associations of nonrotation of the intestine are peritoneal bands. Here we report a case of nonrotation of intestines. In the cadaver of age around 70 years, the small intestinal loops was situated in the right side of the abdominal cavity and large intestine looped on the left side of the abdominal cavity. This was also associated with aberrant position of the caecum and appendix. There were associated peritoneal bands extending from the ascending colon to the left side the abdominal wall. The bands had been removed to visualize the large intestinal loops. PMID:24392405

  9. Use of Diagnostic Imaging in the Evaluation of Gastrointestinal Tract Duplications

    PubMed Central

    Laskowska, Katarzyna; Gałązka, Przemysław; Daniluk-Matraś, Irena; Leszczyński, Waldemar; Serafin, Zbigniew

    2014-01-01

    Summary Background Gastrointestinal tract duplication is a rare malformation associated with the presence of additional segment of the fetal gut. The aim of this study was to retrospectively review clinical features and imaging findings in intraoperatively confirmed cases of gastrointestinal tract duplication in children. Material/Methods The analysis included own material from the years 2002–2012. The analyzed group included 14 children, among them 8 boys and 6 girls. The youngest patient was diagnosed at the age of three weeks, and the oldest at 12 years of age. Results The duplication cysts were identified in the esophagus (n=2), stomach (n=5), duodenum (n=1), terminal ileum (n=5), and rectum (n=1). In four cases, the duplication coexisted with other anomalies, such as patent urachus, Meckel’s diverticulum, mesenteric cyst, and accessory pancreas. Clinical manifestation of gastrointestinal duplication cysts was variable, and some of them were detected accidently. Thin- or thick-walled cystic structures adjacent to the wall of neighboring gastrointestinal segment were documented on diagnostic imaging. Conclusions Ultrasound and computed tomography are the methods of choice in the evaluation of gastrointestinal duplication cysts. Apart from the diagnosis of the duplication cyst, an important issue is the detection of concomitant developmental pathologies, including pancreatic heterotopy. PMID:25114725

  10. Gastric intramural hematoma accompanied by severe epigastric pain and hematemesis after endoscopic mucosal resection

    PubMed Central

    Sun, Peng; Tan, Shi-Yun; Liao, Guo-Hai

    2012-01-01

    Gastric intramural hematoma is a rare injury of the stomach, and is most often seen in patients with underlying disease. Such injury following endoscopic therapy is even rarer, and there are no universally accepted guidelines for its treatment. In this case report, we describe a gastric intramural hematoma which occurred within 6 h of endoscopic mucosal resection (EMR). Past medical history of this patient was negative, and laboratory examinations revealed normal coagulation profiles and platelet count. Following EMR, the patient experienced severe epigastric pain and vomited 150 mL of gastric contents which were bright red in color. Subsequent emergency endoscopy showed a 4 cm × 5 cm diverticulum-like defect in the anterior gastric antrum wall and a 4 cm × 8 cm intramural hematoma adjacent to the endoscopic submucosal dissection lesion. Following unsatisfactory temporary conservative management, the patient was treated surgically and made a complete recovery. Retrospectively, one possible reason for the patient’s condition is that the arterioles in the submucosa or muscularis may have been damaged during deep and massive submucosal injection. Thus, endoscopists should be aware of this potential complication and improve the level of surgery, especially the skills required for submucosal injection. PMID:23323020

  11. Risk factors for early post-operative neurological deterioration in dogs undergoing a cervical dorsal laminectomy or hemilaminectomy: 100 cases (2002-2014).

    PubMed

    Taylor-Brown, F E; Cardy, T J A; Liebel, F X; Garosi, L; Kenny, P J; Volk, H A; De Decker, S

    2015-12-01

    Early post-operative neurological deterioration is a well-known complication following dorsal cervical laminectomies and hemilaminectomies in dogs. This study aimed to evaluate potential risk factors for early post-operative neurological deterioration following these surgical procedures. Medical records of 100 dogs that had undergone a cervical dorsal laminectomy or hemilaminectomy between 2002 and 2014 were assessed retrospectively. Assessed variables included signalment, bodyweight, duration of clinical signs, neurological status before surgery, diagnosis, surgical site, type and extent of surgery and duration of procedure. Outcome measures were neurological status immediately following surgery and duration of hospitalisation. Univariate statistical analysis was performed to identify variables to be included in a multivariate model. Diagnoses included osseous associated cervical spondylomyelopathy (OACSM; n = 41), acute intervertebral disk extrusion (IVDE; 31), meningioma (11), spinal arachnoid diverticulum (10) and vertebral arch anomalies (7). Overall 54% (95% CI 45.25-64.75) of dogs were neurologically worse 48 h post-operatively. Multivariate statistical analysis identified four factors significantly related to early post-operative neurological outcome. Diagnoses of OACSM or meningioma were considered the strongest variables to predict early post-operative neurological deterioration, followed by higher (more severely affected) neurological grade before surgery and longer surgery time. This information can aid in the management of expectations of clinical staff and owners with dogs undergoing these surgical procedures. PMID:26542365

  12. Single- vs. multi-stage repair of proximal hypospadias: The dilemma continues

    PubMed Central

    Badawy, Haytham; Fahmy, Ahmed

    2013-01-01

    Introduction The surgical reconstruction of distal penile hypospadias in a single stage is the standard practice for managing anterior hypospadias. Unfortunately, it is not simple to extrapolate the same principle to proximal hypospadias. There is no consensus among hypospadiologists about whether a single- or multi-stage operation is the optimal treatment for proximal hypospadias. In this review, we assess the currently reported outcomes and complications of both techniques in proximal hypospadias repair. Methods We searched Medline, Pubmed, Scopus and Ovid for publications in the last 10 years (2002–2012) for relevant articles, using the terms ‘proximal hypospadias’, ‘posterior hypospadias’ ‘single stage’, ‘multiple stage’, and ‘complications’. Articles retrieved were analysed according to the technique of repair, follow-up, complications, success rate, number of included children, and re-operative rate. Results and conclusions The reported complications in both techniques were similar, including mostly minor complications in the form of fistula, meatal stenosis, partial glans dehiscence, and urethral diverticulum, with their easy surgical repair. The outcomes of single- and multistage repairs of proximal hypospadias are comparable; no technique can be considered better than any other. Thus, it is more judicious for a hypospadiologist to master a few of these procedures to achieve the best results, regardless of the technique used. PMID:26558078

  13. Perforated diverticulitis of the sigmoid colon causing a subcutaneous emphysema

    PubMed Central

    Kassir, Radwan; Abboud, Karine; Dubois, Joelle; Baccot, Sylviane; Debs, Tarek; Favre, Jean-Pierre; Gugenheim, Jean; Gastaldi, Pauline; Amor, Imed Ben; Tiffet, Olivier

    2014-01-01

    INTRODUCTION Although diverticular disease of the colon is frequent, perforated diverticulitis causing subcutaneous emphysema is a uncommon entity. We wish to present this extremely rare case of perforated colonic diverticulum in the subcutaneous tissue, which is the first one that we have encountered in our practice, along with the accompanying diagnostic and therapeutic issues and a review of the literature. PRESENTATION OF CASE We report the case of an 83-year-old man who admitted to the emergency room due to an abdominal subcutaneous emphysema. Physical examination revealed a severe subcutaneous emphysema especially in the left iliac fossa and abdominal pain. An urgent contrast enhanced abdominal CT scan showed multiple diverticula in the sigmoid colon and multiple air bubbles in the subcutaneous tissue. The exploratory laparotomy identified a perforation of diverticular in subcutaneous tissue. Forty centimeters of colon were resected. The subcutaneous emphysema resolved without specific treatment. The postoperative period was uncomplicated. DISCUSSION Subcutaneous emphysema of anterior abdomen wall is an obvious physical sign but its etiology is complex to determine and may be potentially lethal. The pathophysiological mechanism involved is the emergence of a pressure gradient between the peritoneum and surrounding structures, causing rupture of the anterior abdominal wall, allowing gas from a perforation to diffuse along tissue planes. CONCLUSION This physical sign may be of especial value in elderly patient groups amongst whom perforation may be less clinically obvious. General surgeons should bear in mind this rare complication of colonic diverticulosis. PMID:25437673

  14. [Operative treatment of vesical diverticula].

    PubMed

    Ye, G; Yang, T; Jin, X

    1997-04-01

    We reviewed the results of operative management of 31 patients with vesical deverticula, and introduce a simple technique for treating large bladder diverticula. In the 31 patients with vesical diverticula analysed, 23 were followed up for at least six months. Of the 31 patients, 25 were male and 6 female. The average age was 54.2 years. Diverticula was secondary to bladderoutlet obstruction. Seven cases had intradiverticular tumors, and 9 stones in the sac. The diagnosis of vesical diverticula was usually made by cystogram or ultrasonography. The operative indications for vesical diverticula included stone formation, intradiverticular tumor, ureteral obstruction, incomplete empting diverticulum and urine retention due to large diverticula. The combined extravesical and intravesical method was often used. 26 patients underwent both operations for outlet obstruction and vesical diverticula at the same time. Of the 23 followed-up cases, 21 had no symptoms of the urinary tract. Five of the 7 patients with intradiverticular tumor died within 2.5 years; one of the rest survived for 2 years, and the others for 6 years. Two patients with large vesical diverticula received intravesical separation of diverticula. No complications encountered in this simple, time-saving and safe procedure. Cystograms revealed normal condition. The choice of operative techniques to treat vesical diverticula varies with each individual patient. The technique of intravesical separation of vesical diverticula is suitable for large, adhesive and posterior diverticula. PMID:10374539

  15. The non-avian theropod quadrate I: standardized terminology with an overview of the anatomy and function

    PubMed Central

    Araújo, Ricardo; Mateus, Octávio

    2015-01-01

    The quadrate of reptiles and most other tetrapods plays an important morphofunctional role by allowing the articulation of the mandible with the cranium. In Theropoda, the morphology of the quadrate is particularly complex and varies importantly among different clades of non-avian theropods, therefore conferring a strong taxonomic potential. Inconsistencies in the notation and terminology used in discussions of the theropod quadrate anatomy have been noticed, including at least one instance when no less than eight different terms were given to the same structure. A standardized list of terms and notations for each quadrate anatomical entity is proposed here, with the goal of facilitating future descriptions of this important cranial bone. In addition, an overview of the literature on quadrate function and pneumaticity in non-avian theropods is presented, along with a discussion of the inferences that could be made from this research. Specifically, the quadrate of the large majority of non-avian theropods is akinetic but the diagonally oriented intercondylar sulcus of the mandibular articulation allowed both rami of the mandible to move laterally when opening the mouth in many of theropods. Pneumaticity of the quadrate is also present in most averostran clades and the pneumatic chamber—invaded by the quadrate diverticulum of the mandibular arch pneumatic system—was connected to one or several pneumatic foramina on the medial, lateral, posterior, anterior or ventral sides of the quadrate. PMID:26401455

  16. The aberrant right subclavian artery (arteria lusoria): the morphological and clinical aspects of one of the most important variations--a systematic study of 141 reports.

    PubMed

    Polguj, Michał; Chrzanowski, Łukasz; Kasprzak, Jarosław D; Stefańczyk, Ludomir; Topol, Mirosław; Majos, Agata

    2014-01-01

    The most important abnormality of the aortic arch is arguably the presence of an aberrant right subclavian artery (arteria lusoria). If this vessel compresses the adjacent structures, several symptoms may be produced. The aim of the study is to present the morphological and clinical aspects of the aberrant right subclavian artery. Three different databases searched for a review of pertinent literature using strictly predetermined criteria. Of 141 cases, 15 were cadaveric and 126 were clinically documented. The gender distribution of the subjects was 55.3% female and 44.7% male. The mean age of the patients at symptoms onset was 49.9 ± 19.4 years for all patients but 54.0 ± 19.6 years and 44.9 ± 18.1 years for female and male subjects, respectively (P = 0.0061). The most common symptoms in this group were dysphagia (71.2%), dyspnea (18.7%), retrosternal pain (17.0%), cough (7.6%), and weight loss (5.9%). The vascular anomalies coexisting with an arteria lusoria were truncus bicaroticus (19.2%), Kommerell's diverticulum (14.9%), aneurysm of the artery itself (12.8%), and a right sided aortic arch (9.2%). In conclusion, compression of adjacent structures by an aberrant right subclavian artery needs to be differentiated from other conditions presenting dysphagia, dyspnea, retrosternal pain, cough, and weight loss. PMID:25105156

  17. The Aberrant Right Subclavian Artery (Arteria Lusoria): The Morphological and Clinical Aspects of One of the Most Important Variations—A Systematic Study of 141 Reports

    PubMed Central

    Chrzanowski, Łukasz; Kasprzak, Jarosław D.; Stefańczyk, Ludomir; Topol, Mirosław; Majos, Agata

    2014-01-01

    The most important abnormality of the aortic arch is arguably the presence of an aberrant right subclavian artery (arteria lusoria). If this vessel compresses the adjacent structures, several symptoms may be produced. The aim of the study is to present the morphological and clinical aspects of the aberrant right subclavian artery. Three different databases searched for a review of pertinent literature using strictly predetermined criteria. Of 141 cases, 15 were cadaveric and 126 were clinically documented. The gender distribution of the subjects was 55.3% female and 44.7% male. The mean age of the patients at symptoms onset was 49.9 ± 19.4 years for all patients but 54.0 ± 19.6 years and 44.9 ± 18.1 years for female and male subjects, respectively (P = 0.0061). The most common symptoms in this group were dysphagia (71.2%), dyspnea (18.7%), retrosternal pain (17.0%), cough (7.6%), and weight loss (5.9%). The vascular anomalies coexisting with an arteria lusoria were truncus bicaroticus (19.2%), Kommerell's diverticulum (14.9%), aneurysm of the artery itself (12.8%), and a right sided aortic arch (9.2%). In conclusion, compression of adjacent structures by an aberrant right subclavian artery needs to be differentiated from other conditions presenting dysphagia, dyspnea, retrosternal pain, cough, and weight loss. PMID:25105156

  18. The pattern of a specimen of Pycnogonum litorale (Arthropoda, Pycnogonida) with a supernumerary leg can be explained with the "boundary model" of appendage formation

    NASA Astrophysics Data System (ADS)

    Scholtz, Gerhard; Brenneis, Georg

    2016-02-01

    A malformed adult female specimen of Pycnogonum litorale (Pycnogonida) with a supernumerary leg in the right body half is described concerning external and internal structures. The specimen was maintained in our laboratory culture after an injury in the right trunk region during a late postembryonic stage. The supernumerary leg is located between the second and third walking legs. The lateral processes connecting to these walking legs are fused to one large structure. Likewise, the coxae 1 of the second and third walking legs and of the supernumerary leg are fused to different degrees. The supernumerary leg is a complete walking leg with mirror image symmetry as evidenced by the position of joints and muscles. It is slightly smaller than the normal legs, but internally, it contains a branch of the ovary and a gut diverticulum as the other legs. The causes for this malformation pattern found in the Pycnogonum individual are reconstructed in the light of extirpation experiments in insects, which led to supernumerary mirror image legs, and the "boundary model" for appendage differentiation.

  19. Reality named endoscopic ultrasound biliary drainage.

    PubMed

    Guedes, Hugo Gonçalo; Lopes, Roberto Iglesias; de Oliveira, Joel Fernandez; Artifon, Everson Luiz de Almeida

    2015-10-25

    Endoscopic ultrasound (EUS) is used for diagnosis and evaluation of many diseases of the gastrointestinal (GI) tract. In the past, it was used to guide a cholangiography, but nowadays it emerges as a powerful therapeutic tool in biliary drainage. The aims of this review are: outline the rationale for endoscopic ultrasound-guided biliary drainage (EGBD); detail the procedural technique; evaluate the clinical outcomes and limitations of the method; and provide recommendations for the practicing clinician. In cases of failed endoscopic retrograde cholangiopancreatography (ERCP), patients are usually referred for either percutaneous transhepatic biliary drainage (PTBD) or surgical bypass. Both these procedures have high rates of undesirable complications. EGBD is an attractive alternative to PTBD or surgery when ERCP fails. EGBD can be performed at two locations: transhepatic or extrahepatic, and the stent can be inserted in an antegrade or retrograde fashion. The drainage route can be transluminal, duodenal or transpapillary, which, again, can be antegrade or retrograde [rendezvous (EUS-RV)]. Complications of all techniques combined include pneumoperitoneum, bleeding, bile leak/peritonitis and cholangitis. We recommend EGBD when bile duct access is not possible because of failed cannulation, altered upper GI tract anatomy, gastric outlet obstruction, a distorted ampulla or a periampullary diverticulum, as a minimally invasive alternative to surgery or radiology. PMID:26504507

  20. Pharyngeal swallowing disorders: selection for and outcome after myotomy.

    PubMed Central

    Mason, R J; Bremner, C G; DeMeester, T R; Crookes, P F; Peters, J H; Hagen, J A; DeMeester, S R

    1998-01-01

    OBJECTIVE: To develop selection criteria based on the mechanical properties of pharyngoesophageal swallowing that indicate when patients with pharyngeal dysphagia will benefit from a myotomy. SUMMARY BACKGROUND DATA: The pathophysiology of pharyngoesophageal swallowing disorders is complex. The disorder is of interest to several medical specialists (gastroenterologists, otorhinolaryngologists, general and thoracic surgeons), which contributes to confusion about the entity. The management is compounded because it is most frequently seen in the elderly, is often associated with generalized neuromuscular disease, and occurs with a high prevalence of concomitant disease. The selection of patients for myotomy is difficult and of major importance to the quality of life of the affected patients. METHOD: One hundred seven patients without a Zenker diverticulum but with pharyngeal dysphagia underwent a detailed manometric assessment of the upper esophageal sphincter (UES). Cricopharyngeal opening was identified by the presence of a subatmospheric pressure drop before bolus arrival. Impaired pharyngoesophageal segment compliance resulting in a resistance to pharyngoesophageal flow was determined by measuring the intrabolus pressure generated by a 5-ml liquid bolus. RESULTS: Thirty-one of 107 patients underwent a myotomy (29%). Both impaired sphincter opening and increased intrabolus pressure predicted a good outcome. CONCLUSION: Myotomy is beneficial in patients with pharyngeal swallowing disorders and manometric evidence of defective sphincter opening and increased intrabolus pressure. Images Figure 1. Figure 2. Figure 3. PMID:9790349

  1. Changes of smooth muscle contractile filaments in small bowel atresia

    PubMed Central

    Gfroerer, Stefan; Fiegel, Henning; Ramachandran, Priya; Rolle, Udo; Metzger, Roman

    2012-01-01

    AIM: To investigate morphological changes of intestinal smooth muscle contractile fibres in small bowel atresia patients. METHODS: Resected small bowel specimens from small bowel atresia patients (n = 12) were divided into three sections (proximal, atretic and distal). Standard histology hematoxylin-eosin staining and enzyme immunohistochemistry was performed to visualize smooth muscle contractile markers α-smooth muscle actin (SMA) and desmin using conventional paraffin sections of the proximal and distal bowel. Small bowel from age-matched patients (n = 2) undergoing Meckel’s diverticulum resection served as controls. RESULTS: The smooth muscle coat in the proximal bowel of small bowel atresia patients was thickened compared with control tissue, but the distal bowel was unchanged. Expression of smooth muscle contractile fibres SMA and desmin within the proximal bowel was slightly reduced compared with the distal bowel and control tissue. There were no major differences in the architecture of the smooth muscle within the proximal bowel and the distal bowel. The proximal and distal bowel in small bowel atresia patients revealed only minimal differences regarding smooth muscle morphology and the presence of smooth muscle contractile filament markers. CONCLUSION: Changes in smooth muscle contractile filaments do not appear to play a major role in postoperative motility disorders in small bowel atresia. PMID:22791945

  2. Diverticulectomy in the Management of Intradiverticular Bladder Tumors: A Twelve-Year Experience at a Single Institution

    PubMed Central

    Bourgi, Ali; Ayoub, Elias; Merhej, Sleiman

    2016-01-01

    Purpose. In this retrospective case review we analyze the outcomes of patients treated for intradiverticular bladder tumors (IDT). Materials and Methods. A retrospective case review was done between January 2002 and May 2014 in Hotel-Dieu de France hospital. The series included 17 patients diagnosed with IDT, all males with a mean age of 49.8 years. Results. One patient was treated with tumor resection and adjuvant BCG instillation with no recurrence on follow-up cystoscopies and urine cytologies. 64% of patients were treated by diverticulectomy. Mean follow-up time was 38.7 months. At the end of the follow-up, 81% were disease-free. One patient had a radical cystectomy 6 months after diverticulectomy for recurrent high grade tumor; another one had a nodal metastasis 10 months after diverticulectomy and was managed with chemotherapy. 29% of patients were treated with radical cystectomy. Mean follow-up time was 28.4 months. No recurrence was documented on annual CT scans. Conclusions. Our data support a conservative approach for tumors confined to the bladder diverticulum, even in high grade or in the presence of CIS provided complete removal is feasible and close follow-up is ensured. PMID:27066072

  3. Etiology of non-traumatic acute abdomen in pediatric emergency departments

    PubMed Central

    Yang, Wen-Chieh; Chen, Chun-Yu; Wu, Han-Ping

    2013-01-01

    Acute abdominal pain is a common complaint in pediatric emergency departments. A complete evaluation is the key factor approaching the disease and should include the patient’s age, any trauma history, the onset and chronicity of the pain, the related symptoms and a detailed physical examination. The aim of this review article is to provide some information for physicians in pediatric emergency departments, with the age factors and several causes of non-traumatic acute abdominal pain. The leading causes of acute abdominal pain are divided into four age groups: infants younger than 2 years old, children 2 to 5, children 5 to 12, and children older than 12 years old. We review the information about acute appendicitis, intussusception, Henoch-Schönlein purpura, infection, Meckel’s diverticulum and mesenteric adenitis. In conclusion, the etiologies of acute abdomen in children admitted to the emergency department vary depending on age. A complete history and detailed physical examination, as well as abdominal imaging examinations, could provide useful information for physicians in the emergency department to narrow the differential diagnosis of abdominal emergencies and give a timely treatment. PMID:24364022

  4. Recurrent duplications of 17q12 associated with variable phenotypes.

    PubMed

    Mitchell, Elyse; Douglas, Andrew; Kjaegaard, Susanne; Callewaert, Bert; Vanlander, Arnaud; Janssens, Sandra; Yuen, Amy Lawson; Skinner, Cindy; Failla, Pinella; Alberti, Antonino; Avola, Emanuela; Fichera, Marco; Kibaek, Maria; Digilio, Maria C; Hannibal, Mark C; den Hollander, Nicolette S; Bizzarri, Veronica; Renieri, Alessandra; Mencarelli, Maria Antonietta; Fitzgerald, Tomas; Piazzolla, Serena; van Oudenhove, Elke; Romano, Corrado; Schwartz, Charles; Eichler, Evan E; Slavotinek, Anne; Escobar, Luis; Rajan, Diana; Crolla, John; Carter, Nigel; Hodge, Jennelle C; Mefford, Heather C

    2015-12-01

    The ability to identify the clinical nature of the recurrent duplication of chromosome 17q12 has been limited by its rarity and the diverse range of phenotypes associated with this genomic change. In order to further define the clinical features of affected patients, detailed clinical information was collected in the largest series to date (30 patients and 2 of their siblings) through a multi-institutional collaborative effort. The majority of patients presented with developmental delays varying from mild to severe. Though dysmorphic features were commonly reported, patients do not have consistent and recognizable features. Cardiac, ophthalmologic, growth, behavioral, and other abnormalities were each present in a subset of patients. The newly associated features potentially resulting from 17q12 duplication include height and weight above the 95th percentile, cataracts, microphthalmia, coloboma, astigmatism, tracheomalacia, cutaneous mosaicism, pectus excavatum, scoliosis, hypermobility, hypospadias, diverticulum of Kommerell, pyloric stenosis, and pseudohypoparathryoidism. The majority of duplications were inherited with some carrier parents reporting learning disabilities or microcephaly. We identified additional, potentially contributory copy number changes in a subset of patients, including one patient each with 16p11.2 deletion and 15q13.3 deletion. Our data further define and expand the clinical spectrum associated with duplications of 17q12 and provide support for the role of genomic modifiers contributing to phenotypic variability. PMID:26420380

  5. Root of the small-bowel mesentery: correlative anatomy and CT features of pathologic conditions.

    PubMed

    Okino, Y; Kiyosue, H; Mori, H; Komatsu, E; Matsumoto, S; Yamada, Y; Suzuki, K; Tomonari, K

    2001-01-01

    The root of the small-bowel mesentery (SBM) is an important peritoneal fold that is contiguous to other peritoneal ligaments and mesocolons. Several pathologic conditions can occur in the SBM itself, and diseases that spread through the connections from adjacent organs frequently involve it. The root of the SBM is contiguous to the hepatoduodenal ligament around the superior mesenteric vein (SMV) and contiguous to the right side of the transverse mesocolon around the gastrocolic trunk. The inferior mesenteric vein, which is a landmark of the descending mesocolon, runs along the left side of the root of the SBM. Malignant neoplasms can spread to the SBM by means of direct extension, extension along the neural plexus, extension along neighboring ligaments, or extension along lymphatic vessels. Inflammatory conditions such as pancreatitis and perforation of a jejunal diverticulum can also spread to the SBM. Anomalies that can occur in the SBM include rotation anomalies and internal hernia. Vascular lesions of the SBM include thrombosis of the superior mesenteric artery (SMA), acute SMV thrombosis, SMA dissection, arterioportal fistula, and portal venous gas. Other pathologic conditions that can occur in the SBM are edema or congestion, mesenteric tear, mesenteric panniculitis, and tumors or tumorlike lesions. PMID:11706218

  6. Emerging Manifestations of Cesarean Scar Defect in Reproductive-aged Women.

    PubMed

    Tulandi, Togas; Cohen, Aviad

    2016-01-01

    The objective of this study was to evaluate the prevalence of cesarean scar defects and its clinical manifestations in reproductive-aged women. We performed a systematic review following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement using keywords of "cesarean scar defect, uterine scar defect, uterine diverticulum niche, isthmocele, pouch, or sacculation" and their combination. Thirty-two trials met the inclusion criteria. Cesarean scar defects are commonly found on ultrasound examination (24%-88%). Their presence could be asymptomatic or related to postmenstrual spotting, postmenstrual bleeding, or infertility. The prevalence of this condition is related to the number of cesarean deliveries. Hysteroscopic repair of a cesarean scar defect or isthmoplasty is associated with an improvement in uterine bleeding in 59% to 100% of cases and a pregnancy rate of 77.8% to 100%. An improvement in uterine bleeding after vaginal repair occurred in 89% to 93.5% of cases. Laparoscopic repair led to uterine bleeding improvement in 86% of cases and a pregnancy rate of 86%. The association between cesarean scar defect and infertility, pelvic pain, and dysmenorrhea require more studies. Treatment of uterine scar defects should be performed after eliminating other causes of postmenstrual bleeding or infertility. Hysteroscopic isthmoplasty appears to be the most popular treatment. However, in the absence of randomized trials, the efficacy of different surgical approaches remains to be seen. Until we have concrete evidence, the treatment should be reserved for selective cases. PMID:27393285

  7. Adapting to cope with eucalypt oils: mandibular extensions in pergid sawfly larvae and potential preadaptations in its sister family Argidae (Insecta, Hymenoptera, Symphyta).

    PubMed

    Schmidt, S; Walter, G H

    2011-11-01

    Each of the interior mandibular surfaces of Australian sawfly larvae in the subfamily Perginae is equipped with a soft, brush-like scopa mandibularis. These insects are associated with oil-rich Myrtaceae, including Eucalyptus, and the scopa is involved in separating leaf oils from nutritive plant matter. The oil is stored internally in a diverticulum and is emitted during defense reactions. However, this is known only from mature larvae and the mandibular structure has been investigated and partially illustrated in only one genus of pergines, Pergagrapta. Here, we provide a full description, extend this to a second genus, Perga, and include first instar larvae of Perga and Pseudoperga genera to confirm the presence of the scopa and diverticula through the entire larval life, and thus infer their developmental trajectory. Superficial descriptions of mandibular projections in some Nearctic species in the family Argidae, which is phylogenetically sister to the Pergidae, have been published. Modifications of the inner mandibular surface of representatives of the argid genera Sericoceros, Sphacophilus, and Zynzus are therefore fully illustrated and compared with those of the Pergidae, so this phylogenetic relationship can be assessed. PMID:21688297

  8. Mucinous Balls Tangled With Mesothelial Cells and MUC2-Positive Cancer Cells in the Ascites of Pseudomyxoma Peritonei.

    PubMed

    Akashi, Shizuka; Kuwabara, Hiroko; Yasuda, Emi; Akutagawa, Hiroshi; Takeshita, Atsushi; Kurisu, Yoshitaka; Egashira, Yutaro; Hirose, Yoshinobu; Yuki, Masako; Tsuda, Yasuhiro; Hayashi, Michihiro

    2016-07-01

    Pseudomyxoma peritonei (PMP) is characterized by extensive mucinous ascites following rupture of mucinous neoplasms of an intra-abdominal origin, and contain secreted gel-forming mucins such as MUC2 and MUC5AC. We encountered a 66-year-old Japanese man complaining of abdominal distension. Ascites at the site was gelatinous upon gross examination, and needle aspirate smears showed histiocytes and many mucinous balls wrapped in spindle cells, which were positive for vimentin, pan-cytokeratin, and podoplanin. The cell block showed several adenocarcinoma clusters, which were positive for MUC2, MUC5AC, CK20, and CDX-2, and negative for CK7. From these findings, a diagnosis of PMP arising from colon cancer was indicated. Cytoreductive surgery was performed, and the cystic diverticulum was found to be infiltrated by tumor cells in the sigmoid colon that caused PMP. Mucinous balls surrounded by mesothelial cells and MUC2-positive adenocarcinoma cells are useful clues in the diagnosis of PMP. Diagn. Cytopathol. 2016;44:628-631. © 2016 Wiley Periodicals, Inc. PMID:27079739

  9. The paranasal air sinuses of predatory and armored dinosaurs (archosauria: theropoda and ankylosauria) and their contribution to cephalic structure.

    PubMed

    Witmer, Lawrence M; Ridgely, Ryan C

    2008-11-01

    The paranasal air sinuses and nasal cavities were studied along with other cephalic spaces (brain cavity, paratympanic sinuses) in certain dinosaurs via CT scanning and 3D visualization to document the anatomy and examine the contribution of the sinuses to the morphological organization of the head as a whole. Two representatives each of two dinosaur clades are compared: the theropod saurischians Majungasaurus and Tyrannosaurus and the ankylosaurian ornithischians Panoplosaurus and Euoplocephalus. Their extant archosaurian outgroups, birds and crocodilians (exemplified by ostrich and alligator), display a diversity of paranasal sinuses, yet they share only a single homologous antorbital sinus, which in birds has an important subsidiary diverticulum, the suborbital sinus. Both of the theropods had a large antorbital sinus that pneumatized many of the facial and palatal bones as well as a birdlike suborbital sinus. Given that the suborbital sinus interleaves with jaw muscles, the paranasal sinuses of at least some theropods (including birds) were actively ventilated rather than being dead-air spaces. Although many ankylosaurians have been thought to have had extensive paranasal sinuses, most of the snout is instead (and surprisingly) often occupied by a highly convoluted airway. Digital segmentation, coupled with 3D visualization and analysis, allows the positions of the sinuses to be viewed in place within both the skull and the head and then measured volumetrically. These quantitative data allow the first reliable estimates of dinosaur head mass and an assessment of the potential savings in mass afforded by the sinuses. PMID:18951476

  10. [ULTRASTRUCTURAL ORGANIZATION OF CELLULAR ELEMENTS AND INTERCELLULAR CONNECTIONS IN STATOCYSTS OF TERRESTRIAL PULMONARY SNAIL H. LUCORUM].

    PubMed

    Gorgiladze, G; Bukia, R; Kalandarishvili, E; Taktakishvili, A; Gelashvili, N; Davitashvili, M; Madjagaladze, N

    2016-03-01

    The organ of mollusc equilibrium - statocyst appears to be the analogue of acoustic-vestibular system in vertebrate animals. In terrestrial pulmonary snail the epithelial lining of statocyst cavity is created by two types of the cells - a small amount of large cells, provided with kinocilia of sensitive cells and considerably a large number of small supporting or inserted cells, covered with the microvilli. By means of transmission and scanning electron microscopy the ultrastructure and intercellular connections of these cells were studied. The sensitive cells have in a certain way structured cytoplasm, which consists of three layers: ectoplasm, granular layer and hyaloplasm. Myelin-like bodies having the granular, vesicular and drop-like formations in the centre appear to be the special structure of the cytoplasm. In the cytoplasm there are areas, saturated with electron dense glycogen granules. On the electronograms sometimes it is observed how the pinocytic vesicles in the supporting cells are created from the diverticulum of plasmatic membrane of sensitive cells. The boundary areas of plasmatic membrane of adjacent cells (sensitive cells with supporting or supporting cells with the support) are also characterized by the presence of specialized contacts, which are analogous to desmosomes in the epithelial tissues, as well as by the existence of cellular desmosomes, interdigitations. Numerous lacunas have been revealed in the intercellular space, which are connected by the thin tubules and ducts resulting in the formation of a complicated configuration of extensive system of communicating with each other lacunae, which have the exit in statocyst cavity. PMID:27119843

  11. Gastrointestinal helminths (Cestoda, Chabertiidae and Heligmonellidae) of Pogonomys loriae and Pogonomys macrourus (Rodentia: Muridae) from Papua Indonesia and Papua New Guinea with the description of a new genus and two new species.

    PubMed

    Smales, L R

    2014-01-01

    Pieces of cestode, not indentified further, and 12 species of nematode including 1 new genus, 3 new species and 7 putative new species from the Families Chabertiidae and Heligmonellidae were collected from the digestive tracts of 16 Pogonomys loriae and 19 P. macrurous (Murinae: Hydromyini) from Papua, Indonesia and Papua New Guinea. The chabertiid Cyclodontostomum purvisi and the heligmonellid Odilia mackerrasae have been described previously from endemic murids. Hasanuddinia pogonomyos n. sp. can be distinguished from its congeners by the number of ridges in the synlophe, length of spicules and having a vagina with a dorsal diverticulum. Odilia dividua n. sp. is larger than its congeners, has a longer oesophagus, relatively shorter spicules and larger eggs. Pogonomystrongylus domaensis n. gen., n. sp. differs from all other genera in the Heligmonellidae in the characters of the synlophe, 7-10 ridges oriented sub frontally with a single left ventral ridge hypertrophied. Species richness of the nematode assemblages of P. loriae and P. macrourus are comparable to those of Abeomelomys sevia, Chiruromys vates and Coccymys rummleri when numbers of hosts examined are considered. Species composition was distinctive with 12, including the 7 putative species, of 14 species presently known only from species of Pogonomys. Similarities between the nematode fauna of endemic rodent hosts from Indonesia and Papua New Guinea were noted. PMID:25544134

  12. Perforated diverticulitis of the sigmoid colon revealed by a perianal fistula

    PubMed Central

    Amor, Imed Ben; Kassir, Radwan; Bachir, Elias; Katharina, Hufschmidt; Debs, Tarek; Gugenheim, Jean

    2015-01-01

    Introduction Diverticular disease of the colon is a frequent pathology; however, perforated diverticulitis with a spontaneous sigmoidocutaneous fistula revealed by a perianal abscess is an uncommon presentation. We present this extremely rare case of a perforated sigmoid diverticulum in the perianal area, which is the first case that we have encountered in our practice and in the literature, along with the accompanying diagnostic and therapeutic issues and a review of the literature. Presentation of case We report the case of a 47-year-old man who was admitted to the emergency room due to a perianal abscess. The patient was taken to the operating room on an emergency basis. In the lithotomy position, the abscess was located at the 4 o’clock position. Incision and drainage was performed. Intraoperatively, the abscess was found to be deep, and considered an ischiorectal abscess. No fistulous tract was identified. An MRI of the pelvis was performed one month postoperatively which revealed a perforated diverticulitis of the sigmoid colon causing a perianal fistula. After the abscess was successfully treated, a sigmoidectomy was performed. Fifteen centimeters of the colon were resected. No postoperative complications occurred. Discussion Perianal fistula is an obvious physical sign but its etiology is complex to determine. The pathophysiological mechanism involved is the emergence of a pressure gradient between the peritoneum and surrounding structures, causing rupture of the perianal tissue, allowing gas from a perforation to diffuse along tissue planes. Conclusion General surgeons should bear in mind this rare presentation of a sigmoid diverticulitis. PMID:25635602

  13. Covered Biodegradable Stent: New Therapeutic Option for the Management of Esophageal Perforation or Anastomotic Leak

    SciTech Connect

    Cerna, Marie; Koecher, Martin Valek, Vlastimil; Aujesky, Rene; Neoral, Cestmir; Andrasina, Tomas; Panek, Jiri; Mahathmakanthi, Shankari

    2011-12-15

    Purpose: This study was designed to evaluate our experience with the treatment of postoperative anastomotic leaks and benign esophageal perforations with covered biodegradable stents. Materials and Methods: From 2008 to 2010, we treated five men with either an anastomotic leak or benign esophageal perforation by implanting of covered biodegradable Ella-BD stents. The average age of the patients was 60 (range, 38-74) years. Postoperative anastomotic leaks were treated in four patients (1 after esophagectomy, 1 after resection of diverticulum, 2 after gastrectomy). In one patient, perforation occurred as a complication of the treatment of an esophageal rupture (which occurred during a balloon dilatation of benign stenosis) with a metallic stent. Results: Seven covered biodegradable stents were implanted in five patients. Primary technical success was 100%. Clinical success (leak sealing) was achieved in four of the five patients (80%). Stent migration occurred in three patients. In two of these patients, the leak had been sealed by the time of stent migration, therefore no reintervention was necessary. In one patient an additional stent had to be implanted. Conclusion: The use of biodegradable covered stents for the treatment of anastomotic leaks or esophageal perforations is technically feasible and safe. The initial results are promising; however, larger number of patients will be required to evaluate the capability of these biodegradable stents in the future. The use of biodegradable material for coverage of the stent is essential.

  14. Reality named endoscopic ultrasound biliary drainage

    PubMed Central

    Guedes, Hugo Gonçalo; Lopes, Roberto Iglesias; de Oliveira, Joel Fernandez; Artifon, Everson Luiz de Almeida

    2015-01-01

    Endoscopic ultrasound (EUS) is used for diagnosis and evaluation of many diseases of the gastrointestinal (GI) tract. In the past, it was used to guide a cholangiography, but nowadays it emerges as a powerful therapeutic tool in biliary drainage. The aims of this review are: outline the rationale for endoscopic ultrasound-guided biliary drainage (EGBD); detail the procedural technique; evaluate the clinical outcomes and limitations of the method; and provide recommendations for the practicing clinician. In cases of failed endoscopic retrograde cholangiopancreatography (ERCP), patients are usually referred for either percutaneous transhepatic biliary drainage (PTBD) or surgical bypass. Both these procedures have high rates of undesirable complications. EGBD is an attractive alternative to PTBD or surgery when ERCP fails. EGBD can be performed at two locations: transhepatic or extrahepatic, and the stent can be inserted in an antegrade or retrograde fashion. The drainage route can be transluminal, duodenal or transpapillary, which, again, can be antegrade or retrograde [rendezvous (EUS-RV)]. Complications of all techniques combined include pneumoperitoneum, bleeding, bile leak/peritonitis and cholangitis. We recommend EGBD when bile duct access is not possible because of failed cannulation, altered upper GI tract anatomy, gastric outlet obstruction, a distorted ampulla or a periampullary diverticulum, as a minimally invasive alternative to surgery or radiology. PMID:26504507

  15. Cytokeratins 8 and 19 in the mouse placental development.

    PubMed

    Tamai, Y; Ishikawa, T; Bösl, M R; Mori, M; Nozaki, M; Baribault, H; Oshima, R G; Taketo, M M

    2000-10-30

    To investigate the expression and biological roles of cytokeratin 19 (K19) in development and in adult tissues, we inactivated the mouse K19 gene (Krt1-19) by inserting a bacterial beta-galactosidase gene (lacZ) by homologous recombination in embryonic stem cells, and established germ line mutant mice. Both heterozygous and homozygous mutant mice were viable, fertile, and appeared normal. By 7.5-8.0 days post coitum (dpc), heterozygous mutant embryos expressed lacZ in the notochordal plate and hindgut diverticulum, reflecting the fact that the notochord and the gut endoderm are derived from the axial mesoderm-originated cells. In the adult mutant, lacZ was expressed mainly in epithelial tissues. To investigate the possible functional cooperation and synergy between K19 and K8, we then constructed compound homozygous mutants, whose embryos died approximately 10 dpc. The lethality resulted from defects in the placenta where both K19 and K8 are normally expressed. As early as 9. 5 dpc, the compound mutant placenta had an excessive number of giant trophoblasts, but lacked proper labyrinthine trophoblast or spongiotrophoblast development, which apparently caused flooding of the maternal blood into the embryonic placenta. These results indicate that K19 and K8 cooperate in ensuring the normal development of placental tissues. PMID:11062258

  16. Sequential transurethral enucleation of the prostate and laparoscopic bladder diverticulectomy.

    PubMed

    Yu, Yang; Guan, Sheng; Shen, Chen; Yang, Bo

    2016-08-01

    Transurethral endoscopic technique and standard laparoscopic technique are surgical options for the management of benign prostatic hyperplasia (BPH) associated with urinary bladder diverticuli (UBD). In this article, we report laparoscopic diverticulectomy (LD) and transurethral plasmakinetic enucleation of the prostate (TUEP) in the same patient sequentially. To the best of our knowledge, this is the first case report of LD combined with TUEP. An 82-year-old patient with benign prostatic hyperplasia and two secondary large bladder diverticuli underwent sequential TUEP and LD. After completion of the TUEP procedure, the detached adenoma was pushed into the bladder as a whole. Then laparoscopic transperitoneal extravesical diverticulectomy assisted by cystoscopic transillumination was performed immediately, and the enucleated prostate was removed via the neck of the diverticulum. The enucleation time and diverticulectomy time was 18 minutes and 108 minutes, respectively. The catheter was removed on the tenth postoperative day. Transurethral endoscopic surgery combined with LD is a good choice in treating BPH and UBD in one session. But the combined procedure is time-consuming, especially for fragmentation of the prostate. TUEP can greatly reduce the operative time of the combined procedure. PMID:27249185

  17. A retrospective and prospective study of megaesophagus in the parma wallaby (Macropus parma) at the San Diego Zoo, California, USA.

    PubMed

    Burgdorf-Moisuk, Anne; Pye, Geoffrey W; Smith, Joseph A; Papendick, Rebecca; Ivy, Jamie A; Hamlin-Andrus, Chris

    2012-03-01

    At the San Diego Zoo (California, USA), 22 cases of megaesophagus were diagnosed in the parma wallaby (Macropus parma); a prevalence of 21.1%. Parma wallabies often have no clinical signs until severe and chronic dilation of the esophagus is present. Clinical signs of advanced disease include weight loss, swelling of the cervical region, regurgitation without reswallowing of ingesta, short flight distance, depression, collapse, dyspnea, and sudden death. Retrospective and prospective studies at the San Diego Zoo and a multi-institutional survey in the United States were used to try to determine the cause of megaesophagus. The retrospective study did not identify an etiology. The prospective study revealed megaesophagus and severely delayed esophageal transit time in eight of eight animals. Myasthenia gravis, lead toxicosis, toxoplasmosis, and thyroid disease were eliminated as possible causes. Of 286 living and dead parma wallabies surveyed at other institutions, three cases of esophageal diverticulum and one case of megaesophagus were reported. The cause of megaesophagus in parma wallabies was not determined. PMID:22448514

  18. A retrospective and prospective study of megaesophagus in the parma wallaby (Macropus parma) at the San Diego Zoo, California, USA.

    PubMed

    Burgdorf-Moisuk, Anne; Pye, Geoffrey W; Smith, Joseph A; Papendick, Rebecca; Ivy, Jamie A; Hamlin-Andrus, Chris

    2012-06-01

    At the San Diego Zoo (California, USA), 22 cases of megaesophagus were diagnosed in the parma wallaby (Macropus parma), yielding a prevalence of 21.1%. Parma wallabies often have no clinical signs until severe and chronic dilation of the esophagus is present. Clinical signs of advanced disease include weight loss, swelling of the cervical region, regurgitation without reswallowing of ingesta, short flight distance, depression, collapse, dyspnea, and sudden death. Retrospective and prospective studies at the San Diego Zoo and a multi-institutional survey in the United States were used to try to determine the cause of megaesophagus. The retrospective study did not identify an etiology. The prospective study revealed megaesophagus and severely delayed esophageal transit time in eight of eight animals. Myasthenia gravis, lead toxicosis, toxoplasmosis, and thyroid disease were eliminated as possible causes. Of 286 living and dead parma wallabies surveyed at other institutions, three cases of esophageal diverticulum and one case of megaesophagus were reported. The cause of megaesophagus in parma wallabies was not determined. PMID:22779236

  19. Morphology and histology of the alimentary canal of Lygus hesperus (Heteroptera: Cimicomoropha: Miridae)

    USGS Publications Warehouse

    Habibi, J.; Coudron, T.A.; Backus, E.A.; Brandt, S.L.; Wagner, R.M.; Wright, M.K.; Huesing, J.E.

    2008-01-01

    Microdissection and transverse semithin sections were used to perform a light microscopy survey of the gross morphology and cellular anatomy of the alimentary canal, respectively, of Lygus hesperus Knight, a key pest of cotton (Gossypium hirsutum L.), alfalfa (Medicago sativa L.), and other crops. The gross morphology of the alimentary canal showed a relatively unadorned tube compared with other hemipterans, with variably shaped compartments and one small diverticulum. However, the epithelial cell anatomy of the gut was relatively complex, with the midgut having the most diverse structure and cell types. The midgut was typical of the "Lygus-type gut" seen in the older literature, i.e., it consisted of three major regions, the first (descending), second (ascending), and third (descending) ventriculi, with different variants of three major epithelial cell types in each region. Our light microscopy (LM) study suggests that the three cell types are nondifferentiated regenerative cells (which sparsely occurred throughout the midgut but were abundant in the anterior region of the first ventriculus), endocrine cells, and columnar cells. Although the Lygus gut cells strongly resemble those cell types seen in other insects, their identification should be confirmed via transmission electron microscopy to be considered definitive. These cell types differed in the size and opacity of vesicles, geometry of cell surface in the gut lumen, and size, shape, and concentration of brush-border microvilli and location within the gut. Comparison of gut structure in L. hesperus with that of other hemipterans, especially in relation to hemipteran phylogeny and feeding strategies, is discussed.

  20. COMPUTED TOMOGRAPHIC ANATOMY AND CHARACTERISTICS OF RESPIRATORY ASPERGILLOSIS IN JUVENILE WHOOPING CRANES

    PubMed Central

    Kelley, Cristin; Pinkerton, Marie E.; Hartup, Barry K.

    2015-01-01

    Respiratory diseases are a leading cause of morbidity and mortality in captivity reared, endangered whooping cranes (Grus americana). Objectives of this retrospective, case series, cross‐sectional study were to describe computed tomography (CT) respiratory anatomy in a juvenile whooping crane without respiratory disease, compare CT characteristics with gross pathologic characteristics in a group of juvenile whooping cranes with respiratory aspergillosis, and test associations between the number of CT tracheal bends and bird sex and age. A total of 10 juvenile whooping cranes (one control, nine affected) were included. Seven affected cranes had CT characteristics of unilateral extrapulmonary bronchial occlusion or wall thickening, and seven cranes had luminal occlusion of the intrapulmonary primary or secondary bronchi. Air sac membrane thickening was observed in three cranes in the cranial and caudal thoracic air sacs, and air sac diverticulum opacification was observed in four cranes. Necropsy lesions consisted of severe, subacute to chronic, focally extensive granulomatous pathology of the trachea, primary bronchi, lungs, or air sacs. No false positive CT scan results were documented. Seven instances of false negative CT scan results occurred; six of these consisted of subtle, mild air sacculitis including membrane opacification or thickening, or the presence of small plaques found at necropsy. The number of CT tracheal bends was associated with bird age but not sex. Findings supported the use of CT as a diagnostic test for avian species with respiratory disease and tracheal coiling or elongated tracheae where endoscopic evaluation is impractical. PMID:26592357

  1. COMPUTED TOMOGRAPHIC ANATOMY AND CHARACTERISTICS OF RESPIRATORY ASPERGILLOSIS IN JUVENILE WHOOPING CRANES.

    PubMed

    Schwarz, Tobias; Kelley, Cristin; Pinkerton, Marie E; Hartup, Barry K

    2016-01-01

    Respiratory diseases are a leading cause of morbidity and mortality in captivity reared, endangered whooping cranes (Grus americana). Objectives of this retrospective, case series, cross-sectional study were to describe computed tomography (CT) respiratory anatomy in a juvenile whooping crane without respiratory disease, compare CT characteristics with gross pathologic characteristics in a group of juvenile whooping cranes with respiratory aspergillosis, and test associations between the number of CT tracheal bends and bird sex and age. A total of 10 juvenile whooping cranes (one control, nine affected) were included. Seven affected cranes had CT characteristics of unilateral extrapulmonary bronchial occlusion or wall thickening, and seven cranes had luminal occlusion of the intrapulmonary primary or secondary bronchi. Air sac membrane thickening was observed in three cranes in the cranial and caudal thoracic air sacs, and air sac diverticulum opacification was observed in four cranes. Necropsy lesions consisted of severe, subacute to chronic, focally extensive granulomatous pathology of the trachea, primary bronchi, lungs, or air sacs. No false positive CT scan results were documented. Seven instances of false negative CT scan results occurred; six of these consisted of subtle, mild air sacculitis including membrane opacification or thickening, or the presence of small plaques found at necropsy. The number of CT tracheal bends was associated with bird age but not sex. Findings supported the use of CT as a diagnostic test for avian species with respiratory disease and tracheal coiling or elongated tracheae where endoscopic evaluation is impractical. PMID:26592357

  2. Lethal complications in a case of sigmoid diverticulitis. A case report.

    PubMed

    Oehler, U; Bulatko, A; Jenss, H; Helpap, B

    1997-02-01

    A 61-year-old female complaining of arthralgia was repeatedly treated with antibiotics and also with prednisolone. A chronic polyarthritis was assumed. In hospital, leukocytosis of 21.000 was found one day before death as well as moderate anemia. Colonoscopy was rejected by the patient. A computer tomography revealed destructive arthritis of the symphysis, vertebral osteochondrosis L5/S1, and sigmoid diverticulosis. The patient died with clinical signs of central dysregulation. At autopsy, a covered perforation of a sigmoid diverticulum with purulent peridiverticulitis was found. The 5th lumbal vertebra and the symphysis showed hematogenic abscesses. Microabscedating pneumonia, purulent meningitis and hypophysitis, and mycotic aneurysm of the basilar artery with lethal rupture were further results of hematogenic spread. Death was caused by massive subarachnoidal hemorrhage. This history is not untypical for elder patients with complicated diverticular disease. The intestinal perforation is often clinically occult due to only few and unspecific symptoms which cannot be exactly attributed to the colon. In the last ten years, we have found lethal complications of sigmoid diverticulitis at a frequency of 0.32% (5 cases in 1.557 subsequent autopsies). The clinical differential diagnosis included diverticulitis in none of the cases. This underlines the importance of autopsies for quality control in medicine, because modern diagnostic methods such as computer tomography were not able to give the correct diagnosis in these cases. PMID:9065589

  3. Commented glossary for rheumatic spinal diseases, based on pathology.

    PubMed Central

    François, R J; Eulderink, F; Bywaters, E G

    1995-01-01

    OBJECTIVES--To redefine and comment on terms on a pathological basis, in order to avoid the confusion due to the use of terms with different meanings, to standardise usage among clinicians, radiologists and pathologists, and to facilitate literature searches. METHODS--Within the Committee of Pathology of the European League against Rheumatism, a study group was set up to analyse the medical literature and common practice concerning the nomenclature of rheumatic spinal diseases. The group tried to amalgamate the main trends in the field, to reconcile etymology, historical background, morphology, and common practice. RESULTS--The group warns against use of the terms 'acquired hyperostosis syndrome', '(von) Bechterew's disease', 'Kümmel's disease', 'pseudospondylolisthesis', 'rheumatoid spondylitis', 'spondylarthropathy' in the sense of spondarthritis, and 'spondylosis'. It recommends intercorporal or interapophyseal rather than intervertebral (osteo) chondrosis, zygapophyseal diverticulum rather than cyst, disc hernia rather than prolapse, spondyloarthritis rather than spondyloarthropathy, marginal rather than anterior spondylitis, and discarthrosis. It proposes 'zygarthrosis' to designate zygapophyseal osteoarthrosis. CONCLUSIONS--Knowledge of the pathological basis of diseases and an understanding of the original definitions given by those who coined new terms make it possible to avoid most of the confusion arising from improper use of spinal terms. PMID:7677436

  4. Cervical esophageal dysphagia: indications for and results of cricopharyngeal myotomy.

    PubMed Central

    Ellis, F H; Crozier, R E

    1981-01-01

    Twenty patients with cervical esophageal dysphagia were treated by cricopharyngeal myotomy. Of these 20 patients, ten had pharyngoesophageal diverticula, four had a hypertensive upper esophageal sphincter (UES), four had bulbar palsy, and two has miscellaneous forms of cricopharyngeal dysfunction. Preoperative esophageal manometric examination revealed mean UES pressures of 37.2 mmHg +/- 4.8 SEM in patients with diverticula-markedly lower (p = 0.01) than in normal patients (55.9 mmHg +/- 5.0 SEM). In patients with hypertensive UES the mean pressure was 166.2 mmHg +/- 13.4, significantly higher (p less than 0.001) than normal. Incoordination of the deglutitive response of the UES characterised by premature relaxation and contraction was present in all patients with diverticula and in one other patient. Another patient exhibited incomplete sphincteric relaxation (achalasia). A 4-5 cm myotomy of the cricopharyngeus muscle and adjacent esophageal muscle was performed in all patients. On the patients with diverticula two also had diverticulectomy. No patient with bulbar palsy was benefited. All other patients were relieved of dysphagia by the operation, with the exception of one patient with a diverticulum. A subsequent diverticulectomy was required in this patient. Postoperative manometric examination revealed an average decrease in UES pressure of 63% and an average decreased in length of the high pressure zone of 1.4 cm. Images Fig. 1. Fig. 2. Fig. 3. Fig. 6. Fig. 7. Fig. 8. PMID:6791598

  5. Antigenic homogeneity of male Müllerian gland (MG) secretory proteins of a caecilian amphibian with secretory proteins of the mammalian prostate gland and seminal vesicles: evidence for role of the caecilian MG as a male accessory reproductive gland.

    PubMed

    Radha, Arumugam; Sree, Sreesha; Faisal, Kunnathodi; Kumar, G Pradeep; Oommen, Oommen V; Akbarsha, Mohammad A

    2014-10-01

    Whereas in all other vertebrates the Müllerian ducts of genetic males are aborted during development, under the influence of Müllerian-inhibiting substance, in the caecilian amphibians they are retained as a pair of functional glands. It has long been speculated that the Müllerian gland might be the male accessory reproductive gland but there has been no direct evidence to this effect. The present study was undertaken to determine whether the caecilian Müllerian gland secretory proteins would bear antigenic similarity to secretory proteins of the prostate gland and/or the seminal vesicles of a mammal. The secretory proteins of the Müllerian gland of Ichthyophis tricolor were evaluated for cross-reactivity with antisera raised against rat ventral prostate and seminal vesicle secretory proteins, adopting SDS-PAGE, two-dimensional electrophoresis and immunoblot techniques. Indeed there was a cross-reaction of five Müllerian gland secretory protein fractions with prostatic protein antiserum and of three with seminal vesicle protein antiserum. A potential homology exists because in mammals the middle group of the prostate primordia is derived from a diverticulum of the Müllerian duct. Thus this study, by providing evidence for expression of prostatic and seminal vesicle proteins in the Müllerian gland, substantiates the point that in caecilians the Müllerian glands are the male accessory reproductive glands. PMID:25160003

  6. Laparoscopic urinary stone surgery: an updated evidence-based review.

    PubMed

    Skolarikos, Andreas; Papatsoris, Athanasios G; Albanis, Stefanos; Assimos, Dean

    2010-10-01

    The treatment of urinary lithiasis has been revolutionized during the last three decades. Minimally invasive therapies in the form of endoscopic surgery in companion with the advent of shock wave lithotripsy have diminished the role of open stone surgery. Laparoscopy, another minimally invasive treatment, is continuously gaining place in the treatment of urinary stones, mainly replacing open surgery. We have tried to identify the level of the evidence and grade of recommendation, according to the evidence-based medicine criteria, in studies supporting the laparoscopic approach to stone extraction. The highest level of evidence (IIa) was found for laparoscopic ureterolithotomy. It is technically feasible with the advantage of being minimally invasive and having lower postoperative morbidity compared to open ureterolithotomy. It is mostly recommended (grade B) for large impacted stones or when endoscopic ureterolithotripsy or shock wave stone disintegration have failed. Laparoscopic pyelolithotomy is feasible but rarely indicated in the present era (III/B). Laparoscopic nephrolithotomy may be indicated to remove a stone from an anterior diverticulum or when PNL or flexible ureteroscopy have failed (III/B). PMID:20396871

  7. Ernst Haeckel's ontogenetic recapitulation: irritation and incentive from 1866 to our time.

    PubMed

    Sander, Klaus

    2002-11-01

    Ernst Haeckel (1834-1919) must count among the most widely known biologists of his time. His monographs on radiolarian skeletons, sponges and medusae immediately became standard works, owing partly to lavish illustrations that later on culminated in his "Art Forms in Nature", which markedly influenced the "art nouveau" of the early 20th century. Haeckel's main impact, however, came from his numerous popular books that were crucial in transferring Darwin's ideas to continental Europe. Haeckel's main addition was his claim that ontogeny recapitulates phylogeny. It was partly founded on pre-Darwinian observations by J.F. Meckel and K.E. v. Baer who noticed that vertebrate embryos of different species resemble each other more strongly during early ontogenesis than later on. Wishing to illustrate this clearly, Haeckel clandestinely generalized some figures showing early embryos of animals and Man. This "fraud" provided ammunition for his many adversaries, most of whom felt provoked by his antireligious campaigns. The resulting controversies continued well into the 20th century but then subsided. Quite recently, however, they have flared up again, perhaps in connection with progress in molecular embryology that revealed an amazing evolutionary conservation of genes and their cooperation in signal transduction chains. The scientific publications that triggered this flare, and a selection of "Letters to the Editor" in both international science magazines and the German popular press, serve here to show that Haeckel's idea of recapitulation, while having proven its heuristic value, is still causing considerable irritation. This results from the widespread intuition that the marvels of ontogenesis and other biological phenomena must reflect some "intelligent design" rather than Darwinian evolution. PMID:12489336

  8. A meckelin-filamin A interaction mediates ciliogenesis.

    PubMed

    Adams, Matthew; Simms, Roslyn J; Abdelhamed, Zakia; Dawe, Helen R; Szymanska, Katarzyna; Logan, Clare V; Wheway, Gabrielle; Pitt, Eva; Gull, Keith; Knowles, Margaret A; Blair, Edward; Cross, Sally H; Sayer, John A; Johnson, Colin A

    2012-03-15

    MKS3, encoding the transmembrane receptor meckelin, is mutated in Meckel-Gruber syndrome (MKS), an autosomal-recessive ciliopathy. Meckelin localizes to the primary cilium, basal body and elsewhere within the cell. Here, we found that the cytoplasmic domain of meckelin directly interacts with the actin-binding protein filamin A, potentially at the apical cell surface associated with the basal body. Mutations in FLNA, the gene for filamin A, cause periventricular heterotopias. We identified a single consanguineous patient with an MKS-like ciliopathy that presented with both MKS and cerebellar heterotopia, caused by an unusual in-frame deletion mutation in the meckelin C-terminus at the region of interaction with filamin A. We modelled this mutation and found it to abrogate the meckelin-filamin A interaction. Furthermore, we found that loss of filamin A by siRNA knockdown, in patient cells, and in tissues from Flna(Dilp2) null mouse embryos results in cellular phenotypes identical to those caused by meckelin loss, namely basal body positioning and ciliogenesis defects. In addition, morpholino knockdown of flna in zebrafish embryos significantly increases the frequency of dysmorphology and severity of ciliopathy developmental defects caused by mks3 knockdown. Our results suggest that meckelin forms a functional complex with filamin A that is disrupted in MKS and causes defects in neuronal migration and Wnt signalling. Furthermore, filamin A has a crucial role in the normal processes of ciliogenesis and basal body positioning. Concurrent with these processes, the meckelin-filamin A signalling axis may be a key regulator in maintaining correct, normal levels of Wnt signalling. PMID:22121117

  9. The Umbilical Benz Incision for Reduced Port Surgery in Pediatric Patients

    PubMed Central

    Amano, Hizuru; Kawashima, Hiroshi; Deie, Kyoichi; Murase, Naruhiko; Makita, Satoshi; Yokota, Kazuki; Tanaka, Yujiro

    2015-01-01

    Background and Objectives: For reduced port surgery in pediatric patients, the initial umbilical incision plays an important role in both functional ability and cosmetic impact. Larger umbilical incisions enable better manipulation of forceps, extraction of larger surgical specimens, and easier exteriorization of the intestine for anastomosis. We have pursued an incision of the small pediatric umbilicus that allows for enlargement of the orifice of the abdominal opening with preservation of the natural umbilical profile. This article aims to present a new umbilical incision technique and describe the outcomes. Methods: We devised a new umbilical incision technique for reduced port surgery in pediatric patients. Our incision is made in an inverted Y shape (Benz incision), allowing for access port device insertion. The Benz incision technique was applied between November 2010 and May 2014 and was retrospectively studied. Results: Seventy-five patients underwent Benz incisions. The median age of all patients was 6 years 6 months (range, 26 days to 18 years), and the median body weight was 21.7 kg (range, 3.1–54.3 kg). Benz incisions were applied for various procedures, including reduced port surgery with hepaticojejunostomy for congenital biliary dilatation, portojejunostomy for biliary atresia, Meckel diverticulectomy, tumor resection, varicocelectomy, cholecystectomy, splenectomy, ileus surgery, ileocecal resection, and total colectomy. All patients were successfully treated, without a significant increase in operating time or severe complications. The cosmetic profile of the umbilicus was maintained after surgery. Conclusion: The Benz incision is a feasible, effective, and scarless approach for reduced port surgery in pediatric patients whose umbilical rings are too small for the conventional approach. PMID:25848185

  10. Dural and Arachnoid Membraneous Protection of the Abducens Nerve at the Petroclival Region

    PubMed Central

    Ozveren, M. Faik; Uchida, Koichi; Tekdemir, Ibrahim; Cobanoglu, Bengu; Akdemir, Ismail; Kawase, Takeshi; Deda, Haluk

    2002-01-01

    The goal of this study was to determine the membranous protection of the abducens nerve in the petroclival region. The petroclival portion of the abducens nerve was studied in ten dissections from five cadaveric head specimens. One of the heads was used for histological sections. Four heads were injected with colored latex for microsurgical dissections. The histological sections were prepared from petroclival dura mater, embedded in paraffin blocks, stained, sectioned in the axial, coronal, and sagittal planes, and evaluated by light microscopy. The abducens nerve was covered by a dural sleeve and arachnoidal membrane during its course within the petroclival area. Following the petrous apex, the abducens nerve was fixed by a sympathetic plexus and connective tissue extensions to the lateral wall of the cavernous segment of the internal carotid artery and to the medial wall of Meckel's cave. Fibrous trabeculations inside the venous space were attached to the dural sleeve. The lateral clival artery accompanied the dural sleeve of the abducens nerve and supplied the petroclival dura mater. The arterioles accompanying the abducens nerve through the subarachnoid space supplied the nerve within the dural sleeve. The arachnoid membrane covered the abducens nerve within the dural sleeve to the petrous apex, and arachnoid granulations found on the dural sleeve protruded into the venous space. The extension of the arachnoid membrane to the petrous apex and the presence of arachnoid granulations on the dural sleeve suggest that the subarachnoid space continues in the dural sleeve. ImagesFigure 1Figure 2Figure 3Figure 4Figure 5Figure 6 PMID:17167676

  11. Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling

    PubMed Central

    Bowie, Rachel V.; Li, Chunmei; Kennedy, Julie K.; Ashrafi, Kaveh; Blacque, Oliver E.; Leroux, Michel R.; Reiter, Jeremy F.

    2015-01-01

    Mutations in genes encoding cilia proteins cause human ciliopathies, diverse disorders affecting many tissues. Individual genes can be linked to ciliopathies with dramatically different phenotypes, suggesting that genetic modifiers may participate in their pathogenesis. The ciliary transition zone contains two protein complexes affected in the ciliopathies Meckel syndrome (MKS) and nephronophthisis (NPHP). The BBSome is a third protein complex, affected in the ciliopathy Bardet-Biedl syndrome (BBS). We tested whether mutations in MKS, NPHP and BBS complex genes modify the phenotypic consequences of one another in both C. elegans and mice. To this end, we identified TCTN-1, the C. elegans ortholog of vertebrate MKS complex components called Tectonics, as an evolutionarily conserved transition zone protein. Neither disruption of TCTN-1 alone or together with MKS complex components abrogated ciliary structure in C. elegans. In contrast, disruption of TCTN-1 together with either of two NPHP complex components, NPHP-1 or NPHP-4, compromised ciliary structure. Similarly, disruption of an NPHP complex component and the BBS complex component BBS-5 individually did not compromise ciliary structure, but together did. As in nematodes, disrupting two components of the mouse MKS complex did not cause additive phenotypes compared to single mutants. However, disrupting both Tctn1 and either Nphp1 or Nphp4 exacerbated defects in ciliogenesis and cilia-associated developmental signaling, as did disrupting both Tctn1 and the BBSome component Bbs1. Thus, we demonstrate that ciliary complexes act in parallel to support ciliary function and suggest that human ciliopathy phenotypes are altered by genetic interactions between different ciliary biochemical complexes. PMID:26540106

  12. Fate of the mammalian cranial neural crest during tooth and mandibular morphogenesis.

    PubMed

    Chai, Y; Jiang, X; Ito, Y; Bringas, P; Han, J; Rowitch, D H; Soriano, P; McMahon, A P; Sucov, H M

    2000-04-01

    Neural crest cells are multipotential stem cells that contribute extensively to vertebrate development and give rise to various cell and tissue types. Determination of the fate of mammalian neural crest has been inhibited by the lack of appropriate markers. Here, we make use of a two-component genetic system for indelibly marking the progeny of the cranial neural crest during tooth and mandible development. In the first mouse line, Cre recombinase is expressed under the control of the Wnt1 promoter as a transgene. Significantly, Wnt1 transgene expression is limited to the migrating neural crest cells that are derived from the dorsal CNS. The second mouse line, the ROSA26 conditional reporter (R26R), serves as a substrate for the Cre-mediated recombination. Using this two-component genetic system, we have systematically followed the migration and differentiation of the cranial neural crest (CNC) cells from E9.5 to 6 weeks after birth. Our results demonstrate, for the first time, that CNC cells contribute to the formation of condensed dental mesenchyme, dental papilla, odontoblasts, dentine matrix, pulp, cementum, periodontal ligaments, chondrocytes in Meckel's cartilage, mandible, the articulating disc of temporomandibular joint and branchial arch nerve ganglia. More importantly, there is a dynamic distribution of CNC- and non-CNC-derived cells during tooth and mandibular morphogenesis. These results are a first step towards a comprehensive understanding of neural crest cell migration and differentiation during mammalian craniofacial development. Furthermore, this transgenic model also provides a new tool for cell lineage analysis and genetic manipulation of neural-crest-derived components in normal and abnormal embryogenesis. PMID:10725243

  13. Effects of prolonged exposure to perchlorate on thyroid and reproductive function in zebrafish

    USGS Publications Warehouse

    Mukhi, S.; Patino, R.

    2007-01-01

    The objectives of this study were to determine the effects of prolonged exposure to perchlorate on (1) thyroid status and reproductive performance of adult zebrafish (Danio rerio) and (2) F1 embryo survival and early larval development. Using a static-renewal procedure, mixed sex populations of adult zebrafish were exposed to 0, 10, and 100 mg/l nominal concentrations of waterborne perchlorate for 10 weeks. Thyroid histology was qualitatively assessed, and females and males were separated and further exposed to their respective treatments for six additional weeks. Eight females in each tank replicate (n = 3) were paired weekly with four males from the same respective treatment, and packed-egg (spawn) volume (PEV) was measured each of the last five weeks. At least once during weeks 14-16 of exposure, other end points measured included fertilization rate, fertilized egg diameter, hatching rate, standard length, and craniofacial development of 4-day-postfertilization larvae and thyroid hormone content of 3.5-h embryos and of exposed mothers. At 10 weeks of exposure, perchlorate at both concentrations caused thyroidal hypertrophy and colloid depletion. A marked reduction in PEV was observed toward the end of the 6-week spawning period, but fertilization and embryo hatching rates were unaffected. Fertilized egg diameter and larval length were increased by parental exposure to perchlorate. Larval head depth was unaffected but the forward protrusion of the lower jaw-associated cartilage complexes, Meckel's and ceratohyal, was decreased. Exposure to both concentrations of perchlorate inhibited whole-body thyroxine content in mothers and embryos, but triiodothyronine content was unchanged. In conclusion, prolonged exposure of adult zebrafish to perchlorate not only disrupts their thyroid endocrine system but also impairs reproduction and influences early F1 development. ?? 2007 Oxford University Press.

  14. The anterior process of the malleus in Cetartiodactyla.

    PubMed

    Maier, Wolfgang; Ruf, Irina

    2016-02-01

    The anterior fixation of the anterior process of the malleus has been studied in a number of Cetartiodactyla. This anterior process, also known as processus gracilis, is provided by the prearticular (gonial), a dermal bone, whereas the cartilage of Meckel becomes resorbed in perinatal ontogenetic stages. Posteriorly, the prearticular fuses with the cartilaginous caput of the malleus; rostrally, the prearticular (= processus gracilis) is always fixed to the anterior crus of the ectotympanic by an extremely thin splint (thickness < 50 μm). From the rostral part of the processus gracilis all studied cetartiodactyls develop a processus internus of considerable size. This process was known as 'ossiculum accessorium mallei' in former times, and its homology has been disputed; from our microscopic-anatomical study we can definitely state that it is always a 'processus internus praearticularis'. This process contacts the fascia of the tensor tympani muscle. In non-ruminants, it articulates dorsally with the tegmen tympani and dorsolaterally with the ectotympanic; whereas the processus gracilis becomes more and more slender, the processus internus may grow to considerable size and normally is fused to the adjacent bones already in juveniles. However, in ruminants, the tegmen tympani tends to disappear and the processus internus praearticularis appears as relatively small bony knob at the floor of the medial cranial cavity, and it seems not to be fused to the surrounding bones; in later age stages, it may become secondarily overgrown by the petrosal. This dorsally exposed processus internus praearticularis seems to be a synapomorphy of the Ruminantia. The functional meaning of this internal process of the prearticular, which is also developed to a minor degree in Carnivora, remains unclear at the moment - but we present some speculations about this. PMID:26510377

  15. Cartilage and bone malformations in the head of zebrafish (Danio rerio) embryos following exposure to disulfiram and acetic acid hydrazide

    SciTech Connect

    Strecker, Ruben; Weigt, Stefan; Braunbeck, Thomas

    2013-04-15

    In order to investigate teratogenic effects, especially on cartilage and bone formation, zebrafish embryos were exposed for 144 h to the dithiocarbamate pesticide disulfiram (20–320 μg/L) and acetic acid hydrazide (0.375–12 g/L), a degradation product of isoniazid. After fixation and full-mount staining, disulfiram could be shown to induce strong cartilage malformations after exposure to ≥ 80 μg/L, whereas acetic acid hydrazide caused cartilage alterations only from 1.5 g/L. Undulating notochords occurred after exposure to disulfiram even at the lowest test concentration of 20 μg/L, whereas at the two lowest concentrations of acetic acid hydrazide (0.375 and 0.75 g/L) mainly fractures of the notochord were observed. Concentrations of acetic acid hydrazide ≥ 1.5 g/L resulted in undulated notochords similar to disulfiram. Cartilages and ossifications of the cranium, including the cleithrum, were individually analyzed assessing the severity of malformation and the degree of ossification in a semi-quantitative approach. Cartilages of the neurocranium such as the ethmoid plate proved to be more stable than cartilages of the pharyngeal skeleton such as Meckel's cartilage. Hence, ossification proved significantly more susceptible than cartilage. The alterations induced in the notochord as well as in the cranium might well be of ecological relevance, since notochord malformation is likely to result in impaired swimming and cranial malformation might compromise regular food uptake. - Highlights: ► Disulfiram and acetic acid hydrazide as notochord, cartilage and bone teratogens ► Zebrafish embryos to model effects on single cartilages and bones in the head ► LC50 calculation and head length measurements after six days post-fertilization ► Lethality, head length and teratogenic effects are dose-dependent. ► Cartilages of the neurocranium are the most stable elements in the head.

  16. Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

    PubMed Central

    Romani, Marta; Isrie, Mala; Rosti, Rasim Ozgur; Micalizzi, Alessia; Musaev, Damir; Mazza, Tommaso; Al-gazali, Lihadh; Altunoglu, Umut; Boltshauser, Eugen; D'Arrigo, Stefano; De Keersmaecker, Bart; Kayserili, Hülya; Brandenberger, Sarah; Kraoua, Ichraf; Mark, Paul R; McKanna, Trudy; Van Keirsbilck, Joachim; Moerman, Philippe; Poretti, Andrea; Puri, Ratna; Van Esch, Hilde; Gleeson, Joseph G; Valente, Enza Maria

    2016-01-01

    Background Ciliopathies are an extensive group of autosomal recessive or X-linked disorders with considerable genetic and clinical overlap, which collectively share multiple organ involvement and may result in lethal or viable phenotypes. In large numbers of cases the genetic defect remains yet to be determined. The aim of this study is to describe the mutational frequency and phenotypic spectrum of the CEP120 gene. Methods Exome sequencing was performed in 145 patients with Joubert syndrome (JS), including 15 children with oral-facial-digital syndrome type VI (OFDVI) and 21 Meckel syndrome (MKS) fetuses. Moreover, exome sequencing was performed in one fetus with tectocerebellar dysraphia with occipital encephalocele (TCDOE), molar tooth sign and additional skeletal abnormalities. As a parallel study, 346 probands with a phenotype consistent with JS or related ciliopathies underwent next-generation sequencing-based targeted sequencing of 120 previously described and candidate ciliopathy genes. Results We present six probands carrying nine distinct mutations (of which eight are novel) in the CEP120 gene, previously found mutated only in Jeune asphyxiating thoracic dystrophy (JATD). The CEP120-associated phenotype ranges from mild classical JS in four patients to more severe conditions in two fetuses, with overlapping features of distinct ciliopathies that include TCDOE, MKS, JATD and OFD syndromes. No obvious correlation is evident between the type or location of identified mutations and the ciliopathy phenotype. Conclusion Our findings broaden the spectrum of phenotypes caused by CEP120 mutations that account for nearly 1% of patients with JS as well as for more complex ciliopathy phenotypes. The lack of clear genotype–phenotype correlation highlights the relevance of comprehensive genetic analyses in the diagnostics of ciliopathies. PMID:27208211

  17. Joubert syndrome: genotyping a Northern European patient cohort.

    PubMed

    Kroes, Hester Y; Monroe, Glen R; van der Zwaag, Bert; Duran, Karen J; de Kovel, Carolien G; van Roosmalen, Mark J; Harakalova, Magdalena; Nijman, Ies J; Kloosterman, Wigard P; Giles, Rachel H; Knoers, Nine V A M; van Haaften, Gijs

    2016-02-01

    Joubert syndrome (JBS) is a rare neurodevelopmental disorder belonging to the group of ciliary diseases. JBS is genetically heterogeneous, with >20 causative genes identified to date. A molecular diagnosis of JBS is essential for prediction of disease progression and genetic counseling. We developed a targeted next-generation sequencing (NGS) approach for parallel sequencing of 22 known JBS genes plus 599 additional ciliary genes. This method was used to genotype a cohort of 51 well-phenotyped Northern European JBS cases (in some of the cases, Sanger sequencing of individual JBS genes had been performed previously). Altogether, 21 of the 51 cases (41%) harbored biallelic pathogenic mutations in known JBS genes, including 14 mutations not previously described. Mutations in C5orf42 (12%), TMEM67 (10%), and AHI1 (8%) were the most prevalent. C5orf42 mutations result in a purely neurological Joubert phenotype, in one case associated with postaxial polydactyly. Our study represents a population-based cohort of JBS patients not enriched for consanguinity, providing insight into the relative importance of the different JBS genes in a Northern European population. Mutations in C5orf42 are relatively frequent (possibly due to a Dutch founder mutation) and mutations in CEP290 are underrepresented compared with international cohorts. Furthermore, we report a case with heterozygous mutations in CC2D2A and B9D1, a gene associated with the more severe Meckel-Gruber syndrome that was recently published as a potential new JBS gene, and discuss the significance of this finding. PMID:25920555

  18. Impaired IGF1-GH axis and new therapeutic options in Alström Syndrome patients: a case series

    PubMed Central

    2009-01-01

    Background Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration. Alström syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction. Because adult growth hormone deficiency and Alström Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alström syndrome. Case presentation The patients were hospitalized and the growth hormone stimulatory tests were made, as well as brain MRI. Insulin provocative test revealed a severe GH deficiency in these patients, defined by a peak response to insulin-induced hypoglycemia less than 3 ng/dl and IGF1 concentrations less than – 2SDS. We didn't find multiple pituitary hormone deficiency and we noticed only a severe GH deficiency in all three patients. The MRI study of the diencephalic and pituitary region was suggestive for the diagnosis of empty sella in one patient. One patient received Recombinant-GH replacement for one year with very good results, one underwent a gastric sleeve with a satisfactory outcome, one patient died due to the progression of the cardiac myopathy. Conclusion Future studies are needed to assses if the substitution therapy with Recombinant Growth hormone is cost-effective and without risk in such patients with Alström Syndrome and severe insulin resistance, despite our good results in one patient. Also, careful clinical and genetic studies can contribute to a better understanding of the evolution after different therapeutical attempt in

  19. Neural crest development in the Xenopus laevis embryo, studied by interspecific transplantation and scanning electron microscopy.

    PubMed

    Sadaghiani, B; Thiébaud, C H

    1987-11-01

    The Xenopus borealis quinacrine marker and scanning electron microscopy have been used to study the appearance, migration, and homing of neural crest cells in the embryo of Xenopus. The analysis shows that the primordium of the neural crest develops from the nervous layer of the ectoderm and consists of three segments at early neurula stages. This primordium is located in the lateral halves of the neural folds behind the prospective eye vesicles. The histological and experimental evidence shows that the neural crest cells also originate from the medial portion of the neural folds. The neural crest segments in the cephalic region start to migrate just before the closure of the neural tube. Isotopic and isochronic unilateral grafts of X. borealis neural crest into X. laevis embryos were performed in order to map the fate of the cranial crest segments and the vagal-truncal neural crest. The analysis of the X. laevis host embryos shows that the mandibular crest segment contributes to the lower jaw (Meckel's cartilage), quadrate, and ethmoid-trabecular cartilages, as well as to the ganglionic and Schwann cells of the trigeminus nerve, the connective tissues, the mesenchymal and choroid layers of the eye, and the cornea. The hyoid crest segment is located in the ceratohyal cartilage and in ganglia VII and VIII. The branchial crest segment migrates from the caudal part of the otic vesicle and divides into two portions which contribute to the cartilages of the gills. The vagal-truncal neural crest starts to migrate later at stage 25. It migrates by means of the vagus complex in a ventral direction and penetrates into the splanchnic layer of the digestive tract. The trunk neural crest cells disperse into three different pathways which differ from those of the avian embryo at this level. PMID:3666314

  20. Teratological Effects of a Panel of Sixty Water-Soluble Toxicants on Zebrafish Development

    PubMed Central

    Ali, Shaukat; Aalders, Jeffrey

    2014-01-01

    Abstract The zebrafish larva is a promising whole-animal model for safety pharmacology, environmental risk assessment, and developmental toxicity. This model has been used for the high-throughput toxicity screening of various compounds. Our aim here is to identify possible phenotypic markers of teratogenicity in zebrafish embryos that could be used for the assaying compounds for reproductive toxicity. We have screened a panel of 60 water-soluble toxicants to examine their effects on zebrafish development. A total of 22,080 wild-type zebrafish larvae were raised in 250 μL defined buffer in 96-well plates at a plating density of one embryo per well. They were exposed for a 96-h period starting at 24 h post-fertilization. A logarithmic concentration series was used for range-finding, followed by a narrower geometric series for developmental toxicity assessment. A total of 9017 survivors were analyzed at 5 days post-fertilization for nine phenotypes, namely, (1) normal, (2) pericardial oedema, (3) yolk sac oedema, (4) melanophores dispersed, (5) bent tail tip, (6) bent body axis, (7) abnormal Meckel's cartilage, (8) abnormal branchial arches, and (9) uninflated swim bladder. For each toxicant, the EC50 (concentration required to produce one or more of these abnormalities in 50% of embryos) was also calculated. For the majority of toxicants (55/60) there was, at the population level, a statistically significant, concentration-dependent increase in the incidence of abnormal phenotypes among survivors. The commonest abnormalities were pericardial oedema, yolk sac oedema, dispersed melanophores, and uninflated swim bladder. It is possible therefore that these could prove to be general indicators of reproductive toxicity in the zebrafish embryo assay. PMID:24650241

  1. Eating with a saw for a jaw: functional morphology of the jaws and tooth-whorl in Helicoprion davisii.

    PubMed

    Ramsay, Jason B; Wilga, Cheryl D; Tapanila, Leif; Pruitt, Jesse; Pradel, Alan; Schlader, Robert; Didier, Dominique A

    2015-01-01

    The recent reexamination of a tooth-whorl fossil of Helicoprion containing intact jaws shows that the symphyseal tooth-whorl occupies the entire length of Meckel's cartilage. Here, we use the morphology of the jaws and tooth-whorl to reconstruct the jaw musculature and develop a biomechanical model of the feeding mechanism in these early Permian predators. The jaw muscles may have generated large bite-forces; however, the mechanics of the jaws and whorl suggest that Helicoprion was better equipped for feeding on soft-bodied prey. Hard shelled prey would tend to slip anteriorly from the closing jaws due to the curvature of the tooth-whorl, lack of cuspate teeth on the palatoquadrate (PQ), and resistance of the prey. When feeding on soft-bodied prey, deformation of the prey traps prey tissue between the two halves of the PQ and the whorl. The curvature of the tooth-whorl and position of the exposed teeth relative to the jaw joint results in multiple tooth functions from anterior to posterior tooth that aid in feeding on soft-bodied prey. Posterior teeth cut and push prey deeper into the oral cavity, while middle teeth pierce and cut, and anterior teeth hook and drag more of the prey into the mouth. Furthermore, the anterior-posterior edges of the teeth facilitate prey cutting with jaw closure and jaw depression. The paths traveled by each tooth during jaw depression are reminiscent of curved pathways used with slashing weaponry such as swords and knifes. Thus, the jaws and tooth-whorl may have formed a multifunctional tool for capturing, processing, and transporting prey by cyclic opening and closing of the lower jaw in a sawing fashion. PMID:25181366

  2. Detection of gelatinolytic activity in developing basement membranes of the mouse embryo head by combining sensitive in situ zymography with immunolabeling.

    PubMed

    Gkantidis, Nikolaos; Katsaros, Christos; Chiquet, Matthias

    2012-10-01

    Genetic evidence indicates that the major gelatinases MMP-2 and MMP-9 are involved in mammalian craniofacial development. Since these matrix metalloproteinases are secreted as proenzymes that require activation, their tissue distribution does not necessarily reflect the sites of enzymatic activity. Information regarding the spatial and temporal expression of gelatinolytic activity in the head of the mammalian embryo is sparse. Sensitive in situ zymography with dye-quenched gelatin (DQ-gelatin) has been introduced recently; gelatinolytic activity results in a local increase in fluorescence. Using frontal sections of wild-type mouse embryo heads from embryonic day 14.5-15.5, we optimized and validated a simple double-labeling in situ technique for combining DQ-gelatin zymography with immunofluorescence staining. MMP inhibitors were tested to confirm the specificity of the reaction in situ, and results were compared to standard SDS-gel zymography of tissue extracts. Double-labeling was used to show the spatial relationship in situ between gelatinolytic activity and immunostaining for gelatinases MMP-2 and MMP-9, collagenase 3 (MMP-13) and MT1-MMP (MMP-14), a major activator of pro-gelatinases. Strong gelatinolytic activity, which partially overlapped with MMP proteins, was confirmed for Meckel's cartilage and developing mandibular bone. In addition, we combined in situ zymography with immunostaining for extracellular matrix proteins that are potential gelatinase substrates. Interestingly, gelatinolytic activity colocalized precisely with laminin-positive basement membranes at specific sites around growing epithelia in the developing mouse head, such as the ducts of salivary glands or the epithelial fold between tongue and lower jaw region. Thus, this sensitive method allows to associate, with high spatial resolution, gelatinolytic activity with epithelial morphogenesis in the embryo. PMID:22688677

  3. [PEDIATRIC GASTROENTEROLOGY: ORIGINS, PROBLEMS, AND PROSPECTS OF THE RESEARCH].

    PubMed

    Zaprudnov, A M; Kharitonova, L A; Grigoriev, K I; Bogomaz, L V

    2015-01-01

    The nomenclature of digestive diseases in children was supplemented by the "new" diseases: of esophagus--gastroesophageal reflux disease (GERD), Barrett's esophagus, Zenker's diverticulum; of stomach and duodenum--gastroduodenitis, peptic ulcer disease, polyps, ectopic pancreas in the stomach wall; of the intestine--jejunitis, ileocolitis, Crohn's disease, celiac disease, bacterial overgrowth syndrome in the small intestine; of biliary tract--cholelithiasis, gallbladder cholesterosis, anomalies of the biliary tract; of pancreas--acute and chronic pancreatitis, annular pancreas (2). The features of gastrointestinal diseases in children experiencing the action of factors, not always positively affecting the growing organism, were established. These features include: presence of allergic background; high level of neuro-autonomous and psycho-emotional changes in modern children, not only in schoolchildren, but even in preschoolers; polymorbidity or a combination (syntropy) of lesions of the digestive system; adverse outcomes of certain diseases as chronization, complications development, and as a consequence--a high risk of disability in children; "rejuvenation" of certain diseases of the digestive system (cholelithiasis, gallbladder cholesterosis, Crohn's disease), typical for adults. It is important to emphasize the clinical and social importance of gastroenterological diseases in childhood. Axiomatic is that the origins of many diseases of the digestive organs in adults lie in childhood. Early manifestation of certain diseases such as peptic ulcer disease, gluten enteropathy, Crohn's disease, and others, significantly impact the quality of life of sick children and their parents. It is worth to emphasize high costs of medical and prophylactic (tertiary prevention) activities using the drugs of latest generations. All this causes problems in both applied and scientific pediatric gastroenterology. PMID:26281153

  4. Appendiceal Adenocarcinoma Presenting as a Rectal Polyp

    PubMed Central

    Fitzgerald, Erin; Chen, Lilian; Guelrud, Moises; Allison, Harmony; Zuo, Tao; Suarez, Yvelisse; Yoo, James

    2016-01-01

    Appendiceal adenocarcinoma typically presents as an incidentally noted appendiceal mass, or with symptoms of right lower quadrant pain that can mimic appendicitis, but local involvement of adjacent organs is uncommon, particularly as the presenting sign. We report on a case of a primary appendiceal cancer initially diagnosed as a rectal polyp based on its appearance in the rectal lumen. The management of the patient was in keeping with standard practice for a rectal polyp, and the diagnosis of appendiceal adenocarcinoma was made intraoperatively. The operative strategy had to be adjusted due to this unexpected finding. Although there are published cases of appendiceal adenocarcinoma inducing intussusception and thus mimicking a cecal polyp, there are no reports in the literature describing invasion of the appendix through the rectal wall and thus mimicking a rectal polyp. The patient is a 75-year-old female who presented with spontaneous hematochezia and, on colonoscopy, was noted to have a rectal polyp that appeared to be located within a diverticulum. When endoscopic mucosal resection was not successful, she was referred to colorectal surgery for a low anterior resection. Preoperative imaging was notable for an enlarged appendix adjacent to the rectum. Intraoperatively, the appendix was found to be densely adherent to the right lateral rectal wall. An en bloc resection of the distal sigmoid colon, proximal rectum and appendix was performed, with pathology demonstrating appendiceal adenocarcinoma that invaded through the rectal wall. The prognosis in this type of malignancy weighs heavily on whether or not perforation and spread throughout the peritoneal cavity have occurred. In this unusual presentation, an en bloc resection is required for a complete resection and to minimize the risk of peritoneal spread. Unusual appearing polyps do not always originate from the bowel wall. Abnormal radiographic findings adjacent to an area of gastrointestinal pathology may

  5. Predictors of re-bleeding after endoscopic hemostasis for delayed post-endoscopic sphincterotomy bleeding

    PubMed Central

    Lee, Mu-Hsien; Tsou, Yung-Kuan; Lin, Cheng-Hui; Lee, Ching-Song; Liu, Nai-Jen; Sung, Kai-Feng; Cheng, Hao-Tsai

    2016-01-01

    AIM: To predict the re-bleeding after endoscopic hemostasis for delayed post-endoscopic sphincterotomy (ES) bleeding. METHODS: Over a 15-year period, data from 161 patients with delayed post-ES bleeding were retrospectively collected from a single medical center. To identify risk factors for re-bleeding after initial successful endoscopic hemostasis, parameters before, during and after the procedure of endoscopic retrograde cholangiopancreatography were analyzed. These included age, gender, blood biochemistry, co-morbidities, endoscopic diagnosis, presence of peri-ampullary diverticulum, occurrence of immediate post-ES bleeding, use of needle knife precut sphincterotomy, severity of delayed bleeding, endoscopic features on delayed bleeding, and type of endoscopic therapy. RESULTS: A total of 35 patients (21.7%) had re-bleeding after initial successful endoscopic hemostasis for delayed post-ES bleeding. Univariate analysis revealed that malignant biliary stricture, serum bilirubin level of greater than 10 mg/dL, initial bleeding severity, and bleeding diathesis were significant predictors of re-bleeding. By multivariate analysis, serum bilirubin level of greater than 10 mg/dL and initial bleeding severity remained significant predictors. Re-bleeding was controlled by endoscopic therapy in a single (n = 23) or multiple (range, 2-7; n = 6) sessions in 29 of the 35 patients (82.9%). Four patients required transarterial embolization and one went for surgery. These five patients had severe bleeding when delayed post-ES bleeding occurred. One patient with decompensated liver cirrhosis died from re-bleeding. CONCLUSION: Re-bleeding occurs in approximately one-fifth of patients after initial successful endoscopic hemostasis for delayed post-ES bleeding. Severity of initial bleeding and serum bilirubin level of greater than 10 mg/dL are predictors of re-bleeding. PMID:27003996

  6. Is Endoscopic Papillary Large Balloon Dilation Safe for Treating Large CBD Stones?

    PubMed Central

    Shim, Chan Sup; Kim, Ji Wan; Lee, Tae Yoon; Cheon, Young Koog

    2016-01-01

    In recent years, endoscopic papillary large balloon dilation (EPLBD) with endoscopic sphincterotomy (EST) has been shown to be an effective technique for the removal of large or difficult common bile duct (CBD) stones, as an alternative to EST. Reviewing the literature published since 2003, it is understood that EPLBD has fewer associated overall complications than EST. Bleeding occurred less frequently with EPLBD than with EST. There was no significant difference in postendoscopic retrograde cholangiopancreatography pancreatitis or perforation. Recent accumulated results of EPLBD with or even without EST suggest that it is a safe and effective procedure for the removal of large or difficult bile duct stones without any additional risk of severe adverse events, when performed under appropriate guidelines. Since use of a larger balloon can tear the sphincter as well as the bile duct, possibly resulting in bleeding and perforation, a balloon size that is equal to or smaller in diameter than the diameter of the native distal bile duct is recommended. The maximum transverse diameter of the stone and the balloon-stone diameter ratio have a tendency to affect the success or failure of complete removal of stones by large balloon dilation to prevent adverse effects such as perforation and bleeding. One should take into account the size of the native bile duct, the size and burden of stones, the presence of stricture of distal bile duct, and the presence of the papilla in or adjacent to a diverticulum. Even though the results of EPLBD indicate that it is a relatively safe procedure in patients with common duct stones with a dilated CBD, the recommended guidelines should be followed strictly for the prevention of major adverse events such as bleeding and perforation. PMID:27488319

  7. Late prevertebral abscess with sinus following anterior cervical corpectomy and fusion.

    PubMed

    Bhise, Swapnil D; Mathesul, Ambarish A; Deokate, Pravin; Chandanwale, Ajay S; Bartakke, Girish D

    2015-01-01

    Anterior cervical discectomy/corpectomy and fusion is performed in degenerative, traumatic and neoplastic etiologies of the cervical spine. This procedure is highly successful and associated with fewer complications. The rates of early and late postoperative infection have been reported to be between 0.1% and 1.6%, the late infections are being very rare. We report a rare case of a 30-year-old HIV negative, non-diabetic male who developed a late prevertebral cervical abscess with discharging sinus over posterior triangle of neck 3 years after an anterior cervical C6 corpectomy with fibular grafting and buttress screw fixation performed elsewhere for traumatic fracture C6 vertebra. The abscess was drained using radical neck dissection approach with complete excision of sinus track and removal of the infected implant. On culture, the organism was found to be beta-hemolytic streptococci, for which appropriate antibiotics were administered postoperatively. The sinus tract completely healed in 3 months time. Late infection as a complication of anterior cervical spine surgeries is rare and is associated with esophageal perforation, implant migration, seeding of the deep prevertebral space with oropharyngeal flora, or from surgical site/bacteremia or with Zenker's diverticulum. Few cases have been reported till date, but none have presented with a sinus tract. We present a case of delayed prevertebral abscess after cervical spine instrumentation that followed abnormal path causing sinus track to be developed in the site (the posterior triangle of the neck) other than previous incision site. Exploring both triangles of the neck using radical neck dissection approach was essential for complete excision of sinus track, removal of screw and debridement. PMID:26396628

  8. Systematics of the family Plectopylidae in Vietnam with additional information on Chinese taxa (Gastropoda, Pulmonata, Stylommatophora)

    PubMed Central

    Páll-Gergely, Barna; Hunyadi, András; Ablett, Jonathan; Lương, Hào Văn; Fred Naggs; Asami, Takahiro

    2015-01-01

    Abstract Vietnamese species from the family Plectopylidae are revised based on the type specimens of all known taxa, more than 600 historical non-type museum lots, and almost 200 newly-collected samples. Altogether more than 7000 specimens were investigated. The revision has revealed that species diversity of the Vietnamese Plectopylidae was previously overestimated. Overall, thirteen species names (anterides Gude, 1909, bavayi Gude, 1901, congesta Gude, 1898, fallax Gude, 1909, gouldingi Gude, 1909, hirsuta Möllendorff, 1901, jovia Mabille, 1887, moellendorffi Gude, 1901, persimilis Gude, 1901, pilsbryana Gude, 1901, soror Gude, 1908, tenuis Gude, 1901, verecunda Gude, 1909) were synonymised with other species. In addition to these, Gudeodiscus hemmeni sp. n. and Gudeodiscus messageri raheemi ssp. n. are described from north-western Vietnam. Sixteen species and two subspecies are recognized from Vietnam. The reproductive anatomy of eight taxa is described. Based on anatomical information, Halongella gen. n. is erected to include Plectopylis schlumbergeri and Plectopylis fruhstorferi. Additionally, the genus Gudeodiscus is subdivided into two subgenera (Gudeodiscus and Veludiscus subgen. n.) on the basis of the morphology of the reproductive anatomy and the radula. The Chinese Gudeodiscus phlyarius werneri Páll-Gergely, 2013 is moved to synonymy of Gudeodiscus phlyarius. A spermatophore was found in the organ situated next to the gametolytic sac in one specimen. This suggests that this organ in the Plectopylidae is a diverticulum. Statistically significant evidence is presented for the presence of calcareous hook-like granules inside the penis being associated with the absence of embryos in the uterus in four genera. This suggests that these probably play a role in mating periods before disappearing when embryos develop. Sicradiscus mansuyi is reported from China for the first time. PMID:25632253

  9. Management of delayed intrathoracic esophageal perforation with modified intraluminal esophageal stent.

    PubMed

    Zhou, J-H; Gong, T-Q; Jiang, Y-G; Wang, R-W; Zhao, Y-P; Tan, Q-Y; Ma, Z; Lin, Y-D; Deng, B

    2009-01-01

    In this article, we reviewed our experience of treatment of the delayed intrathoracic nonmalignant esophageal perforation employing modified intraluminal esophageal stent. Between February 1990 and August 2006, eight patients were included in this study. Five patients experienced sepsis. The interval time between perforation and stent placement ranged from 36 h to 27 days (average, 8.6 days). Esophageal stenting and throracotomy for foreign body removal were performed in four patients. The remaining four patients underwent stent placement and thoracostomy. Nutrition was initiated through gastrostomy after 7 to 10 days after the stenting. The stent was removed after the patients resumed oral intake of food and the esophagogram showed that perforation was closed. There was no death in this group. Signs of sepsis remitted 1 week after stent placement. Complications included stress ulcer, stimulative cough, and pneumonia each. Stent removal ranged 32 to 120 days (average 66.7) after its placement. The stent was kept in place for 4 months to prevent formation of esophageal stricture in one patient with caustic esophageal burns. The follow-up was completed in all the patients. The mean follow-up period was 59 months (range 12-180). One patient with caustic esophageal burn underwent cicatricial esophagectomy and gastric transposition 3 years later due to the esophageal stricture. Barium swallow demonstrated that there was a diverticulum-like outpouching in one patient and slight esophageal stricture at T2 and T3 level in another. One patient developed reflux esophagitis 5 years after stent removal. All the patients finally had a normal intake of food. Modified esophageal stenting is an effective method to manage the delayed intrathoracic esophageal perforation. Prevention of stent migration and its convenient adjustment might be the major advantages of this method. PMID:19191858

  10. Endoscopically Assisted Water Perfusion Esophageal Manometry with Minimal Sedation: Technique, Indications and Implication on the Clinical Management

    PubMed Central

    Brun, Rita; Staller, Kyle; Viner, Sofia; Kuo, Braden

    2015-01-01

    Goals To demonstrate feasibility and clinical utility of endoscopically-assisted manometry (EAM). Background Esophageal manometry performed without sedation is the standard for assessment of esophageal motility. However, some patients can not tolerate the procedure with intranasal intubation. We have accumulated experience performing EAM with minimal sedation on patients that can not tolerate standard esophageal manometry. Study We report our single center experience of EAM in adult patients. Patient records were analyzed retrospectively. Procedure protocol: Upper endoscopy is performed with minimal sedation to place a guide wire, over which a water perfusion manometry catheter is introduced and standard manometry protocol performed. Results From 2007-2009, 51 patients underwent EAM, 41 (80.4%) for failed transnasal esophageal manometry and 10 (19.6%) for Zencker diverticulum, achalasia, or neurologic disease. Five patients could not tolerate the procedure despite sedation. No early or late complications were recorded and 100% of the completed procedures were diagnostic: 15 (32.6%) patients had a normal study, 13 (28.3%) were diagnosed with achalasia, 12 (26.1%) patients had low LES pressure, 10 (21.7%) patients demonstrated Ineffective Esophageal Motility, 3 (6.5%) patients had hypertensive LES, and one (2.2%) patient had Nutcracker esophagus. Completed procedures resulted in treatment for achalasia (33.3%), medication changes (33.3%), completion of pre-operative assessment for antireflux surgery (27.7%), or no impact clinical management (11.1%). EAM had a direct clinical impact on 89% of patients. Conclusions EAM is a safe, reliable, and feasible technique providing objective diagnostic information that directly impacted clinical management in many problematic patients where the standard procedure failed. PMID:21602703

  11. Expression and immunohistochemical localization of the cytochrome P450 isoform 356A1 (CYP356A1) in oyster Crassostrea gigas.

    PubMed

    Rodrigues-Silva, Christielly; Flores-Nunes, Fabrício; Vernal, Javier I; Cargnin-Ferreira, Eduardo; Bainy, Afonso C D

    2015-02-01

    Cytochrome P450 family (CYP) is a group of proteins virtually found in all living organisms. The main role of most CYPs is to metabolize endo and xenobiotics. Most of the studies on CYP have been carried out in mammals and other vertebrates, however recently a growing interest has been devoted to the identification of CYP isoforms in invertebrates. A gene belonging to the CYP sub-family, CYP356A1, was identified in sanitary sewage-exposed Pacific oysters, Crassostrea gigas. Through heterologous expression, we produced CYP356A1 purified protein and raised a mouse polyclonal antibody. Dot blot tests showed that oysters exposed in situ for 14 days to untreated urban effluent discharges had significantly higher levels of CYP356A1 in digestive gland. Using immunohistochemical techniques we observed that the lining epithelial cells of mantle, stomach and intestine showed a strong CYP356A1 staining, but the mucus and secretory cells were negative. Digestive diverticulum parenchyma and gills lining cells showed strong CYP356A1 reaction, while the filamentary rod (connective tissue) was negative. Free cells, as hemocytes and brown cells also showed CYP356A1 immunoreactions indicating the presence of biotransformation activity in these cells. Male germ cells at early stages expressed CYP356A1 but not sperm mature cells, suggesting that this protein could be involved in the male gonadal development. This study shows the use of a specific antibody to a mollusk CYP isoform and that this protein is inducible in oysters environmentally exposed to urban sewage effluents. PMID:25569847

  12. Prostatic abscess: Objective assessment of the treatment approach in the absence of guidelines

    PubMed Central

    Elshal, Ahmed M.; Abdelhalim, Ahmed; Barakat, Tamer S.; Shaaban, Atallah A.; Nabeeh, Adel; Ibrahiem, El-Housseiny

    2014-01-01

    Objective To assess the outcome of the drainage procedure used for treating a prostatic abscess, and to propose a treatment algorithm to reduce the morbidity and the need for re-treatment. Patients and methods We retrospectively reviewed patients who were admitted and received an interventional treatment for a prostatic abscess. All baseline relevant variables were reviewed. Details of the intervention, laboratory data, duration of hospital stay, follow-up data and re-admissions were recorded. Results A prostatic abscess was diagnosed in 42 patients; 30 were treated by transurethral deroofing and 12 by transrectal needle aspiration. The median (range) size of the abscess was 4.5 (2–23) mL and 2.7 (1.5–7.1) mL in the deroofing and aspiration groups, respectively (P = 0.2). In half of the cases multiple abscesses were evident on imaging before the intervention. The median (range) hospital stay after deroofing and aspiration was 2 (1–11) and 1 (1–19) days, respectively (P = 0.04). Perioperative complications occurred only in the deroofing group, in which two patients developed septic shock requiring intensive care (Clavien 4) and one developed epididymo-orchitis (Clavien 2). There were two late complications in the deroofing group, in which one patient developed a urethral stricture that required endoscopic urethrotomy (Clavien 3a) and one developed a urethral diverticulum and urinary incontinence that required diverticulectomy and a bulbo-urethral sling procedure (Clavien 3b). A urethro-rectal fistula developed after aspiration in one patient. Re-treatment for the abscess was indicated in two (7%) patients in the deroofing group, which was treated by aspiration. Conclusion Transrectal needle aspiration for a prostatic abscess, when done for properly selected cases, could minimise the morbidity of the drainage procedure. PMID:26019960

  13. Late prevertebral abscess with sinus following anterior cervical corpectomy and fusion

    PubMed Central

    Bhise, Swapnil D.; Mathesul, Ambarish A.; Deokate, Pravin; Chandanwale, Ajay S.; Bartakke, Girish D.

    2015-01-01

    Anterior cervical discectomy/corpectomy and fusion is performed in degenerative, traumatic and neoplastic etiologies of the cervical spine. This procedure is highly successful and associated with fewer complications. The rates of early and late postoperative infection have been reported to be between 0.1% and 1.6%, the late infections are being very rare. We report a rare case of a 30-year-old HIV negative, non-diabetic male who developed a late prevertebral cervical abscess with discharging sinus over posterior triangle of neck 3 years after an anterior cervical C6 corpectomy with fibular grafting and buttress screw fixation performed elsewhere for traumatic fracture C6 vertebra. The abscess was drained using radical neck dissection approach with complete excision of sinus track and removal of the infected implant. On culture, the organism was found to be beta-hemolytic streptococci, for which appropriate antibiotics were administered postoperatively. The sinus tract completely healed in 3 months time. Late infection as a complication of anterior cervical spine surgeries is rare and is associated with esophageal perforation, implant migration, seeding of the deep prevertebral space with oropharyngeal flora, or from surgical site/bacteremia or with Zenker's diverticulum. Few cases have been reported till date, but none have presented with a sinus tract. We present a case of delayed prevertebral abscess after cervical spine instrumentation that followed abnormal path causing sinus track to be developed in the site (the posterior triangle of the neck) other than previous incision site. Exploring both triangles of the neck using radical neck dissection approach was essential for complete excision of sinus track, removal of screw and debridement. PMID:26396628

  14. Difficulty in differentiating two cases of sigmoid stenosis by diverticulitis from cancer.

    PubMed

    Nishiyama, Noriko; Mori, Hirohito; Kobara, Hideki; Rafiq, Kazi; Fujihara, Shintarou; Kobayashi, Mitsuyoshi; Masaki, Tsutomu

    2012-07-21

    The incidence of colonic diverticulosis with or without diverticulitis has increased in the Japanese population due to the modernization of food and aging. The rate of diverticulitis in colon diverticulosis ranges from 8.1% to 9.6%. However, few cases of stenosis due to diverticulitis have been reported. These reports suggest that the differentiation between sigmoid diverticulitis and colon cancer is difficult. This report describes two cases of colon stenosis due to diverticulitis that were difficult to differentiate from colon cancer. Case 1 was a 70-year-old woman with narrowed stools for 1 month who underwent colonofiberscopy (CFS). CFS revealed a diverticulum and circumferential stenosis in the sigmoid colon. Barium enema revealed a marked, hourglass-shaped, 2-cm circumferential stenosis in the sigmoid colon. Fluorodeoxyglucose (FDG)-positron emission tomography computed tomography (CT) revealed an increased FDG uptake at the affected portion of the sigmoid colon. Sigmoid colon cancer was suspected, and laparoscopic sigmoidectomy was performed. Pathological examination demonstrated active inflammation with no evidence of malignancy. Case 2 was a 50-year-old man who presented to a nearby clinic with reduced stool output despite the urge to defecate. CFS detected severe stenosis in the sigmoid colon approximately 25 cm from the dentate line. Contrast-enhanced abdominal CT revealed multiple diverticula, wall thickening, and swelling of the lymph nodes around the peritoneal aorta and the inferior mesenteric artery. A partial sigmoidectomy was performed. Pathological examination of the resected specimen revealed no changes in the mucosal epithelial surface, but a marked infiltration of inflammatory cells was observed. PMID:22826630

  15. Difficulty in differentiating two cases of sigmoid stenosis by diverticulitis from cancer

    PubMed Central

    Nishiyama, Noriko; Mori, Hirohito; Kobara, Hideki; Rafiq, Kazi; Fujihara, Shintarou; Kobayashi, Mitsuyoshi; Masaki, Tsutomu

    2012-01-01

    The incidence of colonic diverticulosis with or without diverticulitis has increased in the Japanese population due to the modernization of food and aging. The rate of diverticulitis in colon diverticulosis ranges from 8.1% to 9.6%. However, few cases of stenosis due to diverticulitis have been reported. These reports suggest that the differentiation between sigmoid diverticulitis and colon cancer is difficult. This report describes two cases of colon stenosis due to diverticulitis that were difficult to differentiate from colon cancer. Case 1 was a 70-year-old woman with narrowed stools for 1 month who underwent colonofiberscopy (CFS). CFS revealed a diverticulum and circumferential stenosis in the sigmoid colon. Barium enema revealed a marked, hourglass-shaped, 2-cm circumferential stenosis in the sigmoid colon. Fluorodeoxyglucose (FDG)-positron emission tomography computed tomography (CT) revealed an increased FDG uptake at the affected portion of the sigmoid colon. Sigmoid colon cancer was suspected, and laparoscopic sigmoidectomy was performed. Pathological examination demonstrated active inflammation with no evidence of malignancy. Case 2 was a 50-year-old man who presented to a nearby clinic with reduced stool output despite the urge to defecate. CFS detected severe stenosis in the sigmoid colon approximately 25 cm from the dentate line. Contrast-enhanced abdominal CT revealed multiple diverticula, wall thickening, and swelling of the lymph nodes around the peritoneal aorta and the inferior mesenteric artery. A partial sigmoidectomy was performed. Pathological examination of the resected specimen revealed no changes in the mucosal epithelial surface, but a marked infiltration of inflammatory cells was observed. PMID:22826630

  16. A review of the surgical management of right-sided aortic arch aneurysms.

    PubMed

    Barr, James G; Sepehripour, Amir H; Jarral, Omar A; Tsipas, Pantelis; Kokotsakis, John; Kourliouros, Antonios; Athanasiou, Thanos

    2016-07-01

    Aneurysms and dissections of the right-sided aortic arch are rare and published data are limited to a few case reports and small series. The optimal treatment strategy of this entity and the challenges associated with their management are not yet fully investigated and conclusive. We performed a systematic review of the literature to identify all patients who underwent surgical or endovascular intervention for right aortic arch aneurysms or dissections. The search was limited to the articles published only in English. We focused on presentation and critically assessed different management strategies and outcomes. We identified 74 studies that reported 99 patients undergoing surgical or endovascular intervention for a right aortic arch aneurysm or dissection. The median age was 61 years. The commonest presenting symptoms were chest or back pain and dysphagia. Eighty-eight patients had an aberrant left subclavian artery with only 11 patients having the mirror image variant of a right aortic arch. The commonest pathology was aneurysm arising from a Kommerell's diverticulum occurring in over 50% of the patients. Twenty-eight patients had dissections, 19 of these were Type B and 9 were Type A. Eighty-one patients had elective operations while 18 had emergency procedures. Sixty-seven patients underwent surgical treatment, 20 patients had hybrid surgical and endovascular procedures and 12 had totally endovascular procedure. There were 5 deaths, 4 of which were in patients undergoing emergency surgery and none in the endovascular repair group. Aneurysms and dissections of a right-sided aortic arch are rare. Advances in endovascular treatment and hybrid surgical and endovascular management are making this rare pathology amenable to these approaches and may confer improved outcomes compared with conventional extensive repair techniques. PMID:27001673

  17. Calyceal Diverticula: A Comprehensive Review

    PubMed Central

    Waingankar, Nikhil; Hayek, Samih; Smith, Arthur D; Okeke, Zeph

    2014-01-01

    Calyceal diverticula are rare outpouchings of the upper collecting system that likely have a congenital origin. Stones can be found in up to 50% of calyceal diverticula, although, over the combined reported series, 96% of patients presented with stones. Diagnosis is best made by intravenous urography or computed tomography urogram. Shock wave lithotripsy (SWL) is an option for first-line therapy in patients with stone-bearing diverticula that have radiologically patent necks in mid- to upper-pole diverticula and small stone burdens. Stone-free rates are the lowest with SWL, although patients report being asymptomatic following therapy in up to 75% of cases with extended follow-up. Ureteroscopy (URS) is best suited for management of anteriorly located mid- to upperpole diverticular stones. Drawbacks to URS include difficulty in identifying the ostium and low rate of obliteration. Percutaneous management is best used in posteriorly located mid- to lower-pole stones, and offers the ability to directly ablate the diverticulum. Percutaneous nephrolithotomy remains effective in the management of upperpole diverticula, but carries the risk of pulmonary complications unless subcostal access strategies such as triangulation or renal displacement are used. Laparoscopic surgery provides definitive management, but should be reserved for cases with large stones in anteriorly located diverticula with thin overlying parenchyma, and cases that are refractory to other treatment. This article reviews the current theories on the pathogenesis of calyceal diverticula. The current classification is examined in addition to the current diagnostic methods. Here we summarize an extensive review of the literature on the outcomes of the different treatment approaches. PMID:24791153

  18. Spontaneous intracranial hypotension following epidural anesthesia: a case report.

    PubMed

    An, X; Wu, S; He, F; Li, C; Fang, X

    2016-05-01

    We report a case of refractory spontaneous intracranial hypotension (SIH) following epidural anesthesia. In this case, typical clinical symptoms and concomitant use of regional anesthesia led to the misdiagnosis of SIH as post-dural puncture headache (PDPH). A 56-year-old man received a successful appendectomy under epidural anesthesia performed at a T11-T12 intravertebral space. About 20 h later, the patient started complaining about orthostatic headache when getting up from his lying position, then a PDPH was diagnosed. However, the patient did not respond well to conservative treatment. Three months later, the first epidural blood patch was performed at the L3-L4 level, however, the patient still had an orthostatic headache. Five days later, spine magnetic resonance imaging showed multiple meningeal diverticulum in the cervicothoracic junction, and computerized tomography myelography demonstrated a C5-C6 spinal dural tear suggesting cerebrospinal fluid leaks. Finally, the patient was diagnosed as SIH and received a second epidural blood patch at the T2-T3 level and responded with improvements in symptomatology. The patient was then discharged, and at a 2-year follow-up, he had fully recovered except for some remaining neck stiffness. This case illustrates that SIH was misdiagnosed as PDPH because of the common clinical symptoms and potentially confounding events (epidural/spinal anesthesia and assumption that it was a case of PDPH). It is important to carefully observe patients in such conditions and promptly conduct suitable diagnostic tests. For a successful treatment of SIH, a timely epidural blood patch should be considered as soon as the diagnosis is established. PMID:26939569

  19. Outcome and Safety of Anterograde and Retrograde Single-Balloon Enteroscopy: Clinical Experience at a Tertiary Medical Center in Taiwan

    PubMed Central

    Lin, Meng-Chiung; Chen, Peng-Jen; Shih, Yu-Lueng; Huang, Hsin-Hung; Chang, Wei-Kuo; Hsieh, Tsai-Yuan; Huang, Tien-Yu

    2016-01-01

    Single-balloon enteroscopy (SBE) is designed for identifying possible small bowel lesions with balloon-assisted enteroscopy that allows deep intubation of the intestine. However, data regarding the outcome and safety of SBE remain limited. We conducted this study to evaluate the outcome and safety of anterograde and retrograde SBE approaches. This retrospective review from a tertiary medical center in Taiwan included endoscopic reports and chart data from 128 patients with 200 anterograde and retrograde procedures from September 2009 to November 2014. In this study, the most common indication for both anterograde and retrograde SBE was obscure gastrointestinal bleeding (64.4% vs. 60.6%). There were no significant differences between anterograde and retrograde approaches in terms of the diagnostic yield (69.3% vs. 52.5%) and intervention rate (23.8% vs. 17.2%). The procedure time was shorter for anterograde SBE than for retrograde SBE (68.1 ± 23.9 vs. 76.8 ± 27.7 min, P = 0.018). In addition, among the subgroup of patients with obscure gastrointestinal bleeding, the most common etiologies for those in different age-groups were angiodysplasia (≥ 65 years), non-specific ulcers (30–64 years), and Meckel’s diverticulum (< 30 years). The major complication rate during the study was 1.5%; the rate of asymptomatic hyperamylasemia was higher for patients who underwent anterograde SBE than for those who underwent retrograde SBE (13.9% vs. 2%, P = 0.005). The outcome and safety of anterograde and retrograde SBE are similar. However, anterograde SBE has a shorter procedural time and a higher rate of asymptomatic hyperamylasemia. PMID:27548619

  20. Prevalence of left atrial abnormalities in atrial fibrillation versus normal sinus patients

    PubMed Central

    Ketai, Loren H; Teague, Shawn D; Rissing, Stacy M

    2016-01-01

    Background Atrial fibrillation (AF) may be the cause or sequela of left atrial abnormalities and variants. Purpose To determine the prevalence of left atrial (LA) abnormalities in AF patients compared to normal sinus rhythm (NSR) patients. Material and Methods We retrospectively reviewed 281 cardiac CT examinations from 2010 to 2012, excluding patients with prior pulmonary vein ablation, known coronary artery disease, prior coronary stent placement, or coronary artery bypass grafts. The first group consisted of 159 AF patients undergoing cardiac CT prior to pulmonary vein ablation and the second group consisted of 122 NSR patients evaluated with coronary CT angiography. Demographic data were collected. LA abnormalities were analyzed. Left atrial diameter was measured on an axial view. Results A total of 281 patients were included. The male gender has significantly higher prevalence of AF than female gender, P value <0.001. Patients with AF were significantly older (mean age, 57.4 years; standard deviation [SD], 11.8 years) than NSR patients (mean age, 53.4 years; SD, 13.6 years), P value, 0.01. The left atrial diameter was greater in the AF patients (mean diameter, 4.3 cm; SD, 0.82 cm) versus the NSR patients (3.4 cm; SD, 0.58 cm), P value, <0.0001. LA diverticulum was the most prevalent variant, occurring in 28.4% of the entire patient population followed by LA pouch, occurring in 24%. There was no significant between group differences in the prevalence of these or the remainder of the LA variants. Conclusion AF patients differed significantly from NSR patients in LA size, gender, and mean age. There was no statistical significance between the two groups with regard to the LA morphologic abnormalities other than size. PMID:27358747

  1. Spinal perineurial and meningeal cysts.

    PubMed

    Tarlov, I M

    1970-12-01

    Perineurial cysts may be responsible for clinical symptoms and a cure effected by their removal. They do not fill on initial myelography but may fill with Pantopaque some time, days or weeks, after Pantopaque has been instilled into the subarachnoid space. Perineurial cysts arise at the site of the posterior root ganglion. The cyst wall is composed of neural tissue. When initial myelography fails to reveal an adequate cause for the patient's symptoms and signs referable to the caudal nerve roots, then about a millilitre of Pantopaque should be left in the canal for delayed myelography which may later reveal a sacral perineurial cyst or, occasionally, a meningeal cyst. Meningeal diverticula occur proximal to the posterior root ganglia and usually fill on initial myelography. They are in free communication with the subarachnoid space and are rarely in my experience responsible for clinical symptoms. Meningeal diverticula and meningeal cysts appear to represent a continuum. Pantopaque left in the subarachnoid space may convert a meningeal diverticulum into an expanding symptomatic meningeal cyst, as in the case described. Many cases described as perineurial cysts represent abnormally long arachnoidal prolongations over nerve roots or meningeal diverticula. In general, neither of the latter is of pathological significance. Perineurial, like meningeal cysts and diverticula, may be asymptomatic. They should be operated upon only if they produce progressive or disabling symptoms or signs clearly attributable to them. When myelography must be done, and this should be done only as a preliminary to a probable necessary operation, then patient effort should be made to remove the Pantopaque. PMID:5531903

  2. MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

    PubMed Central

    Li, Chunmei; Kennedy, Julie; Garcia-Gonzalo, Francesc R.; Romani, Marta; De Mori, Roberta; Bruel, Ange-Line; Gaillard, Dominique; Doray, Bérénice; Lopez, Estelle; Rivière, Jean-Baptiste; Faivre, Laurence; Thauvin-Robinet, Christel; Reiter, Jeremy F.; Blacque, Oliver E.; Valente, Enza Maria; Leroux, Michel R.

    2016-01-01

    Cilia have a unique diffusion barrier (“gate”) within their proximal region, termed transition zone (TZ), that compartmentalises signalling proteins within the organelle. The TZ is known to harbour two functional modules/complexes (Meckel syndrome [MKS] and Nephronophthisis [NPHP]) defined by genetic interaction, interdependent protein localisation (hierarchy), and proteomic studies. However, the composition and molecular organisation of these modules and their links to human ciliary disease are not completely understood. Here, we reveal Caenorhabditis elegans CEP-290 (mammalian Cep290/Mks4/Nphp6 orthologue) as a central assembly factor that is specific for established MKS module components and depends on the coiled coil region of MKS-5 (Rpgrip1L/Rpgrip1) for TZ localisation. Consistent with a critical role in ciliary gate function, CEP-290 prevents inappropriate entry of membrane-associated proteins into cilia and keeps ARL-13 (Arl13b) from leaking out of cilia via the TZ. We identify a novel MKS module component, TMEM-218 (Tmem218), that requires CEP-290 and other MKS module components for TZ localisation and functions together with the NPHP module to facilitate ciliogenesis. We show that TZ localisation of TMEM-138 (Tmem138) and CDKL-1 (Cdkl1/Cdkl2/Cdkl3/Cdlk4 related), not previously linked to a specific TZ module, similarly depends on CEP-290; surprisingly, neither TMEM-138 or CDKL-1 exhibit interdependent localisation or genetic interactions with core MKS or NPHP module components, suggesting they are part of a distinct, CEP-290-associated module. Lastly, we show that families presenting with Oral-Facial-Digital syndrome type 6 (OFD6) have likely pathogenic mutations in CEP-290-dependent TZ proteins, namely Tmem17, Tmem138, and Tmem231. Notably, patient fibroblasts harbouring mutated Tmem17, a protein not yet ciliopathy-associated, display ciliogenesis defects. Together, our findings expand the repertoire of MKS module-associated proteins—including the

  3. The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking

    PubMed Central

    Hetterschijt, Lisette; Tonnaer, Edith; Peters, Theo; de Vrieze, Erik; Mans, Dorus A.; van Beersum, Sylvia E. C.; Phelps, Ian G.; Arts, Heleen H.; Keunen, Jan E.; Ueffing, Marius; Roepman, Ronald; Boldt, Karsten; Doherty, Dan; Moens, Cecilia B.; Neuhauss, Stephan C. F.; Kremer, Hannie; van Wijk, Erwin

    2015-01-01

    Ciliopathies are a group of human disorders caused by dysfunction of primary cilia, ubiquitous microtubule-based organelles involved in transduction of extra-cellular signals to the cell. This function requires the concentration of receptors and channels in the ciliary membrane, which is achieved by complex trafficking mechanisms, in part controlled by the small GTPase RAB8, and by sorting at the transition zone located at the entrance of the ciliary compartment. Mutations in the transition zone gene CC2D2A cause the related Joubert and Meckel syndromes, two typical ciliopathies characterized by central nervous system malformations, and result in loss of ciliary localization of multiple proteins in various models. The precise mechanisms by which CC2D2A and other transition zone proteins control protein entrance into the cilium and how they are linked to vesicular trafficking of incoming cargo remain largely unknown. In this work, we identify the centrosomal protein NINL as a physical interaction partner of CC2D2A. NINL partially co-localizes with CC2D2A at the base of cilia and ninl knockdown in zebrafish leads to photoreceptor outer segment loss, mislocalization of opsins and vesicle accumulation, similar to cc2d2a-/- phenotypes. Moreover, partial ninl knockdown in cc2d2a-/- embryos enhances the retinal phenotype of the mutants, indicating a genetic interaction in vivo, for which an illustration is found in patients from a Joubert Syndrome cohort. Similar to zebrafish cc2d2a mutants, ninl morphants display altered Rab8a localization. Further exploration of the NINL-associated interactome identifies MICAL3, a protein known to interact with Rab8 and to play an important role in vesicle docking and fusion. Together, these data support a model where CC2D2A associates with NINL to provide a docking point for cilia-directed cargo vesicles, suggesting a mechanism by which transition zone proteins can control the protein content of the ciliary compartment. PMID:26485645

  4. Active Transport and Diffusion Barriers Restrict Joubert Syndrome-Associated ARL13B/ARL-13 to an Inv-like Ciliary Membrane Subdomain

    PubMed Central

    Cevik, Sebiha; Clarke, Lara; van Reeuwijk, Jeroen; Hori, Yuji; Horn, Nicola; Hetterschijt, Lisette; Wdowicz, Anita; Mullins, Andrea; Kida, Katarzyna; Kaplan, Oktay I.; van Beersum, Sylvia E. C.; Man Wu, Ka; Letteboer, Stef J. F.; Mans, Dorus A.; Katada, Toshiaki; Kontani, Kenji; Ueffing, Marius; Roepman, Ronald; Kremer, Hannie; Blacque, Oliver E.

    2013-01-01

    Cilia are microtubule-based cell appendages, serving motility, chemo-/mechano-/photo- sensation, and developmental signaling functions. Cilia are comprised of distinct structural and functional subregions including the basal body, transition zone (TZ) and inversin (Inv) compartments, and defects in this organelle are associated with an expanding spectrum of inherited disorders including Bardet-Biedl syndrome (BBS), Meckel-Gruber Syndrome (MKS), Joubert Syndrome (JS) and Nephronophthisis (NPHP). Despite major advances in understanding ciliary trafficking pathways such as intraflagellar transport (IFT), how proteins are transported to subciliary membranes remains poorly understood. Using Caenorhabditis elegans and mammalian cells, we investigated the transport mechanisms underlying compartmentalization of JS-associated ARL13B/ARL-13, which we previously found is restricted at proximal ciliary membranes. We now show evolutionary conservation of ARL13B/ARL-13 localisation to an Inv-like subciliary membrane compartment, excluding the TZ, in many C. elegans ciliated neurons and in a subset of mammalian ciliary subtypes. Compartmentalisation of C. elegans ARL-13 requires a C-terminal RVVP motif and membrane anchoring to prevent distal cilium and nuclear targeting, respectively. Quantitative imaging in more than 20 mutants revealed differential contributions for IFT and ciliopathy modules in defining the ARL-13 compartment; IFT-A/B, IFT-dynein and BBS genes prevent ARL-13 accumulation at periciliary membranes, whereas MKS/NPHP modules additionally inhibit ARL-13 association with TZ membranes. Furthermore, in vivo FRAP analyses revealed distinct roles for IFT and MKS/NPHP genes in regulating a TZ barrier to ARL-13 diffusion, and intraciliary ARL-13 diffusion. Finally, C. elegans ARL-13 undergoes IFT-like motility and quantitative protein complex analysis of human ARL13B identified functional associations with IFT-B complexes, mapped to IFT46 and IFT74 interactions. Together

  5. Reduction of meckelin leads to general loss of cilia, ciliary microtubule misalignment and distorted cell surface organization

    PubMed Central

    2014-01-01

    Background Meckelin (MKS3), a conserved protein linked to Meckel Syndrome, assists in the migration of centrioles to the cell surface for ciliogenesis. We explored for additional functions of MKS3p using RNA interference (RNAi) and expression of FLAG epitope tagged protein in the ciliated protozoan Paramecium tetraurelia. This cell has a highly organized cell surface with thousands of cilia and basal bodies that are grouped into one or two basal body units delineated by ridges. The highly systematized nature of the P. tetraurelia cell surface provides a research model of MKS and other ciliopathies where changes in ciliary structure, subcellular organization and overall arrangement of the cell surface can be easily observed. We used cells reduced in IFT88 for comparison, as the involvement of this gene’s product with cilia maintenance and growth is well understood. Results FLAG-MKS3p was found above the plane of the distal basal body in the transition zone. Approximately 95% of those basal bodies observed had staining for FLAG-MKS3. The RNAi phenotype for MKS3 depleted cells included global shortening and loss of cilia. Basal body structure appeared unaffected. On the dorsal surface, the basal bodies and their associated rootlets appeared rotated out of alignment from the normal anterior-posterior rows. Likewise, cortical units were abnormal in shape and out of alignment from normal rows. A GST pull down using the MKS3 coiled-coil domain suggests previously unidentified interacting partners. Conclusions Reduction of MKS3p shows that this protein affects development and maintenance of cilia over the entire cell surface. Reduction of MKS3p is most visible on the dorsal surface. The anterior basal body is attached to and moves along the striated rootlet of the posterior basal body in preparation for duplication. We propose that with reduced MKS3p, this attachment and guidance of the basal body is lost. The basal body veers off course, causing basal body rows to be

  6. Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment

    PubMed Central

    Zhang, Dapeng

    2012-01-01

    In addition to their role in motility, eukaryotic cilia serve as a distinct compartment for signal transduction and regulatory sequestration of biomolecules. Recent genetic and biochemical studies have revealed an extraordinary diversity of protein complexes involved in the biogenesis of cilia during each cell cycle. Mutations in components of these complexes are at the heart of human ciliopathies such as Nephronophthisis (NPHP), Meckel-Gruber syndrome (MKS), Bardet-Biedl syndrome (BBS) and Joubert syndrome (JBTS). Despite intense studies, proteins in some of these complexes, such as the NPHP1-4-8 and the MKS, remain poorly understood. Using a combination of computational analyses we studied these complexes to identify novel domains in them which might throw new light on their functions and evolutionary origins. First, we identified both catalytically active and inactive versions of transglutaminase-like (TGL) peptidase domains in key ciliary/centrosomal proteins CC2D2A/MKS6, CC2D2B, CEP76 and CCDC135. These ciliary TGL domains appear to have originated from prokaryotic TGL domains that act as peptidases, either in a prokaryotic protein degradation system with the MoxR AAA+ ATPase, the precursor of eukaryotic dyneins and midasins, or in a peptide-ligase system with an ATP-grasp enzyme comparable to tubulin-modifying TTL proteins. We suggest that active ciliary TGL proteins are part of a cilia-specific peptidase system that might remove tubulin modifications or cleave cilia- localized proteins, while the inactive versions are likely to bind peptides and mediate key interactions during ciliogenesis. Second, we observe a vast radiation of C2 domains, which are key membrane-localization modules, in multiple ciliary proteins, including those from the NPHP1-4-8 and the MKS complexes, such as CC2D2A/MKS6, RPGRIP1, RPGRIP1L, NPHP1, NPHP4, C2CD3, AHI1/Jouberin and CEP76, most of which can be traced back to the last eukaryotic ancestor. Identification of these TGL and C2

  7. The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.

    PubMed

    Bachmann-Gagescu, Ruxandra; Dona, Margo; Hetterschijt, Lisette; Tonnaer, Edith; Peters, Theo; de Vrieze, Erik; Mans, Dorus A; van Beersum, Sylvia E C; Phelps, Ian G; Arts, Heleen H; Keunen, Jan E; Ueffing, Marius; Roepman, Ronald; Boldt, Karsten; Doherty, Dan; Moens, Cecilia B; Neuhauss, Stephan C F; Kremer, Hannie; van Wijk, Erwin

    2015-10-01

    Ciliopathies are a group of human disorders caused by dysfunction of primary cilia, ubiquitous microtubule-based organelles involved in transduction of extra-cellular signals to the cell. This function requires the concentration of receptors and channels in the ciliary membrane, which is achieved by complex trafficking mechanisms, in part controlled by the small GTPase RAB8, and by sorting at the transition zone located at the entrance of the ciliary compartment. Mutations in the transition zone gene CC2D2A cause the related Joubert and Meckel syndromes, two typical ciliopathies characterized by central nervous system malformations, and result in loss of ciliary localization of multiple proteins in various models. The precise mechanisms by which CC2D2A and other transition zone proteins control protein entrance into the cilium and how they are linked to vesicular trafficking of incoming cargo remain largely unknown. In this work, we identify the centrosomal protein NINL as a physical interaction partner of CC2D2A. NINL partially co-localizes with CC2D2A at the base of cilia and ninl knockdown in zebrafish leads to photoreceptor outer segment loss, mislocalization of opsins and vesicle accumulation, similar to cc2d2a-/- phenotypes. Moreover, partial ninl knockdown in cc2d2a-/- embryos enhances the retinal phenotype of the mutants, indicating a genetic interaction in vivo, for which an illustration is found in patients from a Joubert Syndrome cohort. Similar to zebrafish cc2d2a mutants, ninl morphants display altered Rab8a localization. Further exploration of the NINL-associated interactome identifies MICAL3, a protein known to interact with Rab8 and to play an important role in vesicle docking and fusion. Together, these data support a model where CC2D2A associates with NINL to provide a docking point for cilia-directed cargo vesicles, suggesting a mechanism by which transition zone proteins can control the protein content of the ciliary compartment. PMID:26485645

  8. Historical perspective on developmental concepts and terminology.

    PubMed

    Opitz, John M; Neri, Giovanni

    2013-11-01

    In their ontogeny and phylogeny all living beings are historical entities. The revolution in biology of the 18th and 19th centuries that did away with the scala naturae according to which we humans, the acme of creation, "made a little lower than the angels," also led to the gradual realization that a humble one-celled protist ("protoctist"), such as Entamoeba histolytica of ill repute [Margulis and Chapman, ] has the same 4-billion-year phylogeny as that of Homo sapiens, vivid testimony to common ancestry and the relatedness of all living beings on earth. The group of medical geneticists who assembled at the NIH, Bethesda, MD this January to address terms pertaining to human ontogeny, did so in the long tradition of Sydenham, Linnaeus, Meckel, Geoffroy St-Hilaire père et fils, Wilhelm His and so many others before who had over the previous two centuries wrestled as earnestly as they could with concepts of "classification" and nomenclature of developmental anomalies. The prior massive need for classification per se in medical morphology has diminished over the years in favor of ever more sophisticated understanding of pathogenesis and cause through experimental biology and genetics; however, in the winter of 2013 it was still found prudent to respect terminological precedent on general terms while recognizing recent advances in developmental pathology requiring clarification and definition of special terms. Efforts along similar lines instigated by the German Society of Anatomists at their first meeting in Leipzig in 1887 culminated, after intense years of work by hundreds of experts and consultants under the goad of Wilhelm His, in the Basel Nomina Anatomica [BNA, His (1895)]. His, himself, stated prefatorily that the BNA had no legislative weight, only an evanescent consensus of many to be amended in the future as needed and indicated. Without hubris, no one before or after will do the same. The more substantial the consensus the more permanent the structure

  9. A gene expression map of the larval Xenopus laevis head reveals developmental changes underlying the evolution of new skeletal elements.

    PubMed

    Square, Tyler; Jandzik, David; Cattell, Maria; Coe, Alex; Doherty, Jacob; Medeiros, Daniel Meulemans

    2015-01-15

    The morphology of the vertebrate head skeleton is highly plastic, with the number, size, shape, and position of its components varying dramatically between groups. While this evolutionary flexibility has been key to vertebrate success, its developmental and genetic bases are poorly understood. The larval head skeleton of the frog Xenopus laevis possesses a unique combination of ancestral tetrapod features and anuran-specific novelties. We built a detailed gene expression map of the head mesenchyme in X. laevis during early larval development, focusing on transcription factor families with known functions in vertebrate head skeleton development. This map was then compared to homologous gene expression in zebrafish, mouse, and shark embryos to identify conserved and evolutionarily flexible aspects of vertebrate head skeleton development. While we observed broad conservation of gene expression between X. laevis and other gnathostomes, we also identified several divergent features that correlate to lineage-specific novelties. We noted a conspicuous change in dlx1/2 and emx2 expression in the second pharyngeal arch, presaging the differentiation of the reduced dorsal hyoid arch skeletal element typical of modern anamniote tetrapods. In the first pharyngeal arch we observed a shift in the expression of the joint inhibitor barx1, and new expression of the joint marker gdf5, shortly before skeletal differentiation. This suggests that the anuran-specific infrarostral cartilage evolved by partitioning of Meckel's cartilage with a new paired joint. Taken together, these comparisons support a model in which early patterning mechanisms divide the vertebrate head mesenchyme into a highly conserved set of skeletal precursor populations. While subtle changes in this early patterning system can affect skeletal element size, they do not appear to underlie the evolution of new joints or cartilages. In contrast, later expression of the genes that regulate skeletal element

  10. Pediatric Intussusception in Northern Iran: Comparison of Recurrent With Non-Recurrent Cases

    PubMed Central

    Esmaeili-Dooki, Mohammad Reza; Moslemi, Leila; Hadipoor, Abbas; Osia, Soheil; Fatemi, Seyed-Abbas

    2016-01-01

    Background: Intussusception represents as the invagination of a part of the intestine into itself and is the most common cause of intestinal obstruction in infants and children between 6 months to 3-years-old. Objectives: The objective of this study was to determine the recurrence rate and predisposing factors of recurrent intussusception. Patients and Methods: The medical records of children aged less than 13-years-old with confirmed intussusception who underwent reduction at a tertiary academic care in northern Iran (Mazandran), from 2001 to 2013 were reviewed. Data were extracted and recurrence rate was determined. The two groups were compared by chi square, Fisher, Mann-Whitney and t-test. Diagnosed cases of intussusception consisted of 237 children. Results: Average age of the patients was 19.57 ± 19.43 months with a peak of 3 to 30 months. Male to female ratio was 1.65 and this increased by aging. Recurrence rate was 16% (38 cases). 87 (36.7%) underwent surgery. These were mainly children under one year old. In 71% (40) of episodes recurrence occurred 1 to 7 times within 6 months. The recurrence occurred in 29 (23.5%) children in whom a first reduction was achieved with barium enema (BE) and 5 (5.7%) children who had an operative reduction (P < 0.001) in the first episode. Pathological leading points (PLPs) were observed in 5 cases; 2.6% in recurrence group versus 2% in non-recurrence group (P = 0.91). Three patients had intestinal polyp, 2 patient’s lymphoma and Mackle’s diverticulum. Age (P = 0.77) and sex (P = 0.38) showed no difference between the two groups. PLPs were observed in 1.4% of children aged 3 months to 5 years. This was 13.3%, in older children (P = 0.02). Conclusions: The recurrence of intussusception was related to the method of treatment in the first episode and it was 5-fold higher in children with BE than in operative reduction. Recurrent intussusceptions were not associated with PLPs, they were more idiopathic. PMID:27307967

  11. [Etiological factors of acute pancreatitis].

    PubMed

    Spicák, J

    2002-09-01

    Acute pancreatitis develops immediately after the causative impulse, while chronic pancreatitis develops after the long-term action of the noxious agent. A typical representative of acute pancreatitis is biliary pancreatitis, chronic pancreatitis develops in alcoholism and has a long latency. As alcoholic pancreatitis is manifested at first as a rule by a potent attack, it is classified in this stage as acute pancreatitis. The most frequent etiological factors in our civilization are thus cholelithiasis and alcoholism (both account for 20-50% in different studies). The assumed pathogenetic principles in acute biliary pancreatitis are the common canal of both efferent ducts above the obturated papilla, duodenopancreatic reflux and intrapancreatic hypertension. A detailed interpretation is however lacking. The pathogenesis of alcoholic pancreatitis is more complicated. Among others some part is played by changes in the calcium concentration and fusion of cellular membranes. Idiopathic pancreatitis occurs in up to 10%, part of the are due to undiagnosed alcoholism and cholelithiasis. Other etiologies are exceptional. Similarly as in cholelithiasis pancreatitis develops also during other pathological processes in the area of the papilla of Vater such as dysfunction of the sphincter of Oddi, ampulloma and juxtapapillary diverticulum, it is however usually mild. The incidence of postoperative pancreatitis is declining. Its lethality is 30% and the diagnosis is difficult. In the pathogenesis changes of the ion concentration are involved, hypoxia and mechanical disorders of the integrity of the gland. Pancreatitis develops in association with other infections--frequently in mumps, rarely in hepatitis, tuberculosis, typhoid and mycoses. Viral pancreatitis is usually mild. In parasitoses pancreatitis develops due to a block of the papilla Vateri. In hyperparathyroidism chronic pancreatitis is more likely to develop, recent data are lacking. As to dyslipoproteinaemias

  12. Ultrastructure and molecular characterization of the microsporidium, Nosema chrysoperlae sp. nov., from the green lacewing, Chrysoperla carnea (Stephens) (Neuroptera: Chrysopidae) used for biological pest control.

    PubMed

    Bjørnson, S; Steele, T; Hu, Q; Ellis, B; Saito, T

    2013-09-01

    Lacewing larvae are generalist predators that are commercially available for aphid control on a variety of crops in both Europe and North America. Although lacewings are known for their symbiotic association with yeasts and bacteria, there are few reports of microsporidia in these natural enemies. An undescribed microsporidium was found in Chrysoperla carnea (Stephens) during the routine examination of specimens that were obtained from a commercial insectary for biological pest control. The objective of this study was to describe the pathogen by means of ultrastructure, molecular characterization and tissue pathology. All stages of the microsporidium were diplokaryotic and developed in direct contact with the host cell cytoplasm. Merogony and sporogony were not observed. Mature spores measured 3.49±0.10×1.52±0.05μm and had an isofilar polar filament with 8-10 coils that were frequently arranged in a single row, although double rows were also observed. Spores contained a lamellar polaroplast and a relatively small and inconspicuous polar vacuole was observed in the posterior region of about half of the spores that were examined. Tubular structures, similar in appearance to those in Nosema granulosis were observed in both sporonts and in spores. A cluster of small tubules was also observed in the posterior region of some spores. Microsporidian spores were observed in cells of the proventriculus, diverticulum and in epithelial cells of the posterior midgut. The Malpighian tubules, ileum, and rectum were heavily infected. Spores were also observed in the fat body, peripheral region of the ganglia, within and between the flight muscles, and beneath the cuticle. Although the tissues adjacent to the ovaries were heavily infected, microsporidian spores were not observed within the developing eggs. Pathogen transmission was not studied directly because it was difficult to maintain microsporidia-infected C. carnea in the laboratory. The presence of microsporidian spores

  13. Three-dimensional computer-assisted reconstruction of ductal plate in the rat embryo (Carnegie stages 19-23).

    PubMed

    Godlewski, G; Gaubert, J; Gaubert-Cristol, R; Dauzat, M; Aldréa, F; Prudhomme, M

    2004-10-01

    In bile duct morphogenesis it has been established that the extrahepatic bile ducts in human originate from hepatic diverticulum while intrahepatic bile ducts arise from the ductal plate (DP), a network of primitive biliary epithelium that develops in the periportal connective tissue. The aim of this work was to reconstruct in rat embryos, stages 19-23, the three-dimensional (3D) distribution of the DP by means of a computer-assisted method. Six specimens, stages 19-23, fixed, dehydrated and paraffin-embedded, were submitted to serial histological sections and stained by hematoxylin-eosin and Heidenhain techniques. The images were directly digitalized with a CCD camera. The serial views were aligned anatomically by software and the data were analyzed following segmentation and thresholding. At stage 19, the DP was not yet organized. The periportal mesoderm (M) was gaining ground with some cords of cubic cells evoking primitive ductal cells. At stage 20, a row of ductal cubic cells went around the transverse portal sinus at the junction between M and liver cells. At stage 21, the DP developed at the periphery of periportal connective tissue and appeared in direct continuity with the hepatic duct (HDu). Four evaginations emerged from the DP and were growing up in the hepatic parenchyma. At stage 23, the DP appeared as a large network in continuity with the HDu located at the periphery of periportal M and presenting several evaginations radiating in the liver parenchyma. This work in the rat embryo permits the clear visualization of the development of the junctional zone in the hepatic hilum. Three phenomena are observed: (1) proximal left and right hepatic ducts and their segmental branches are derived from DP and not from the HDu; (2) the extrahepatic biliary system is in contact with the developing hilar ducts; (3) ductal maturation begins at the hilum and proceeds centrifugally. These observations are of great relevance in explaining pathological changes appearing

  14. Cardiac troponin T is necessary for normal development in the embryonic chick heart.

    PubMed

    England, Jennifer; Pang, Kar Lai; Parnall, Matthew; Haig, Maria Isabel; Loughna, Siobhan

    2016-09-01

    The heart is the first functioning organ to develop during embryogenesis. The formation of the heart is a tightly regulated and complex process, and alterations to its development can result in congenital heart defects. Mutations in sarcomeric proteins, such as alpha myosin heavy chain and cardiac alpha actin, have now been associated with congenital heart defects in humans, often with atrial septal defects. However, cardiac troponin T (cTNT encoded by gene TNNT2) has not. Using gene-specific antisense oligonucleotides, we have investigated the role of cTNT in chick cardiogenesis. TNNT2 is expressed throughout heart development and in the postnatal heart. TNNT2-morpholino treatment resulted in abnormal atrial septal growth and a reduction in the number of trabeculae in the developing primitive ventricular chamber. External analysis revealed the development of diverticula from the ventricular myocardial wall which showed no evidence of fibrosis and still retained a myocardial phenotype. Sarcomeric assembly appeared normal in these treated hearts. In humans, congenital ventricular diverticulum is a rare condition, which has not yet been genetically associated. However, abnormal haemodynamics is known to cause structural defects in the heart. Further, structural defects, including atrial septal defects and congenital diverticula, have previously been associated with conduction anomalies. Therefore, to provide mechanistic insights into the effect that cTNT knockdown has on the developing heart, quantitative PCR was performed to determine the expression of the shear stress responsive gene NOS3 and the conduction gene TBX3. Both genes were differentially expressed compared to controls. Therefore, a reduction in cTNT in the developing heart results in abnormal atrial septal formation and aberrant ventricular morphogenesis. We hypothesize that alterations to the haemodynamics, indicated by differential NOS3 expression, causes these abnormalities in growth in cTNT knockdown

  15. Oesophageal tuberculosis: a review of eleven cases.

    PubMed Central

    Mokoena, T.; Shama, D. M.; Ngakane, H.; Bryer, J. V.

    1992-01-01

    Tuberculous infection of the oesophagus is rare. This is confirmed by our present review of cases managed in our teaching hospitals over a period of 18 years which uncovered only 11 patients. The main presentation is that of dysphagia whose algorithm of investigation should seek to differentiate tuberculosis from carcinoma, the more common cause of this symptom. Of the 11 patients, 9 presented with dysphagia while 2 had haemorrhage; 7 had an abnormal plain chest radiograph, of whom 4 had a mediastinal mass lesion (3 were lymphadenopathy and one an abscess). All but one had an abnormal radio-contrast oesophagogram, including a mediastinal sinus in two and a traction diverticulum in another two. The mainstay of investigation was oesophagoscopy through which diagnostic biopsy material was obtained in half of the patients. In the other half diagnosis was by either biopsy of associated mediastinal (3) or cervical (1) lymph node masses or by acid fast bacilli positive sputum (1). The diagnosis was established post-mortem in one patient. Treatment was primarily non-operative with standard anti-tuberculosis drug therapy. Two patients underwent a diagnostic thoracotomy and one a drainage of mediastinal abscess together with resection and repair of oesophago-mediastinal sinus during the early part of the series. Outcome of management was very rewarding in 9 patients and death occurred in 2 patients, one of whom had his anti-tuberculosis drug therapy interrupted by severe hepatitis B virus infection. The other death occurred in a patient whose haemorrhage from an aorta-oesophageal fistula was not established ante-mortem. It is recommended that when biopsy material of the oesophagus is unobtainable or non-diagnostic in patients with dysphagia, especially with an abnormal chest radiograph or human immunodeficiency virus infection, effort should be made to obtain biopsy material from associated lymph nodes, even by thoracotomy if necessary, or culture of biopsy from the

  16. Dysphagia among adult patients who underwent surgery for esophageal atresia at birth

    PubMed Central

    Huynh-Trudeau, Valérie; Maynard, Stéphanie; Terzic, Tatjana; Soucy, Geneviève; Bouin, Mickael

    2015-01-01

    BACKGROUND: Clinical experiences of adults who underwent surgery for esophageal atresia at birth is limited. There is some evidence that suggests considerable long-term morbidity, partly because of dysphagia, which has been reported in up to 85% of adult patients who undergo surgery for esophageal atresia. The authors hypothesized that dysphagia in this population is caused by dysmotility and/or anatomical anomalies. OBJECTIVE: To determine the motor and anatomical causes of dysphagia. METHODS: A total of 41 adults, followed at the Esophageal Atresia Clinic at Hôpital Saint-Luc (Montreal, Quebec), were approached to particpate in the present prospective study. Evaluation was completed using upper endoscopy, manometry and barium swallow for the participants who consented. The medical charts of respondents were systematically reviewed from the neonatal period to 18 years of age to assess medical and surgical history. RESULTS: All 41 patients followed at the clinic consented and were included in the study. Dysphagia was present in 73% of patients. Esophagogastroduodenoscopy was performed in 32 patients: hiatal hernia was present in 62% (n=20); esophageal diverticulum in 13% (n=4); macroscopic Barrett esophagus in 31% (n=10); and esophagitis in 19% (n=6). Histological esophagitis was present in 20% and intestinal metaplasia in 10%. There were no cases of dysplagia or adenocarcinoma. Esophageal manometry was performed on 56% of the patients (n=23). Manometry revealed hypomotility in 100% of patients and included an insufficient number of peristaltic waves in 96%, non-propagating peristalsis in 78% and low-wave amplitude in 95%. Complete aperistalsis was present in 78%. The lower esophageal sphincter was abnormal in 12 (52%) patients, with incomplete relaxation the most common anomaly. Of the 41 patients, 29 (71%) consented to a barium swallow, which was abnormal in 13 (45%). The anomalies found were short esophageal dilation in 28%, delay in esophageal emptying in 14

  17. [IVU: a test of the past without future?].

    PubMed

    Laissy, J P; Abecidan, E; Karila-Cohen, P; Ravery, V; Schouman-Claeys, E

    2001-06-01

    IVU has been gradually replaced over recent years as the "gold standard" investigation for the renal parenchyma and urinary tract by two new modalities: ultrasound and computed tomography. Some authors still advocate IVU for the assessment of renal colic, for the following reasons: the excess cost of CT (which is not true for plain CT) and the absence of functional data (there are specific CT signs for increased pressure). However, the advantages of CT are clearly established: contrast resolution allowing the detection of almost all stones except for certain complications of triple combination therapy in HIV seropositive patients, extensive cover facilitating identification of differential diagnoses, rapidity and greater efficacy, and finally the absence of risk related to the injection of iodinated contrast agents in this indication. However, the performance of CT may be more limited in certain situations: thin patients, or when the female genital tract also needs to be investigated, but IVU is not more contributive in this context. The current place of IVU in renal colic is therefore to establish a definitive diagnosis and to guide an urgent procedure (removal of an obstruction in a context of infection) when CT is either unavailable (maintenance...) or really excessively irradiating, as in pregnant women, when ultrasound, or even MRI and MR urography have not been sufficiently contributive. The essential indication remains detailed visualization of the urinary tract (assessment of haematuria, detection of an urothelial tumour), detailed visualization of the entire urinary tract (assessment of certain malformations), or even a gross assessment of renal function in a patient with multiple injuries, which cannot be investigated by CT and in whom the surgeon rightly hesitates before opening the retroperitoneum. However, in the absence of IVU, we may fail to diagnose papillary necrosis or a small caliceal diverticulum, but is that really important in the final

  18. The ultrastructure of the muscle coat of human gastro-oesophageal junction, with special reference to “interstitial cells of Cajal”†

    PubMed Central

    Faussone-Pellegrini, Maria-Simonetta; Cortesini, Camillo; Romagnoli, Paolo

    2013-01-01

    The muscle coat of the human lower oesophageal sphincter and stomach was studied 5 cm above and 4 cm below the gastro-oesophageal junction. Four subjects were operated on for motility disorders of the esophagus, two for a hypertensive lower oesophageal sphincter and two for an epiphrenic diverticulum; six subjects were operated on for oesophageal or gastric carcinomas. Specimens were fixed in phosphate-buffered OsO4, embedded in Epon, contrasted with uranyl acetate and lead citrate and observed under a Siemens Elmiskop Ia electron microscope. Both the oesophageal and gastric muscle cells, which showed features typical of this cell type, were innervated by multiple varicosities that were rich in synaptic vesicles; these varicosities were generally rarely encountered at distances less than 1000 Å from muscle cells. Only a very few, close neuromuscular junctions were detected. Special cells, which correspond to the “interstitial cells of Cajal” as reported by other authors, were discerned at the periphery of muscle cell bundles. These cells were characterized by an elongated cell body with many thin branches and an oval, sometimes indented nucleus. Some pinocytotic vesicles were located at the cell periphery. These cells were surrounded by a discontinuous basal lamina and were seen in close contact with each other and with muscle cells; the close contact areas were often very wide. The cytoplasm contained variable amounts of mitochondria, a well-developed smooth endoplasmic reticulum and a Golgi complex. As a characteristic feature, bundles of thin filaments were located at the cell periphery and were attached to electron-dense areas of the cell membrane. Morphologically, these filaments resembled myofilaments; they were present in variable amounts and were sometimes very numerous. The observation that the cytoplasmic organelles and filaments varied in number, is probably related to the different functional properties of these cells. Interstitial cells were

  19. Anterior Urethral Valves: Not Such a Benign Condition…

    PubMed Central

    Cruz-Diaz, Omar; Salomon, Anahi; Rosenberg, Eran; Moldes, Juan Manuel; de Badiola, Francisco; Labbie, Andrew Scott; Gosalbez, Rafael; Castellan, Miguel Alfredo

    2013-01-01

    laser ablation and three patients (27.2%) had primary vesicostomies. One boy (9.1%) had penile urethrostomy with excision of urethral diverticulum. Two (18.2%) patients developed end-stage renal disease. Conclusion: Anterior urethral valve is a rare congenital entity affecting the genitourinary system in males. Early urinary tract obstruction resulted in end-stage renal disease in 18% of our patient population. In our series, the complication rate and the evolution to renal failure are high and similar to patients with PUV. In patients with AUVs we recommend long-term follow up and close evaluation of patient’s bladder and renal function. PMID:24400281

  20. Presentation, management, and outcome of posterior urethral valves in a Nigerian tertiary hospital

    PubMed Central

    Orumuah, Agbugui Jude; Oduagbon, Obarisiagbon Edwin

    2015-01-01

    Background: Posterior urethral valves (PUV) remain the most common cause of bladder outlet obstruction and renal insufficiency in male children. The aim of this study was to evaluate the presentation, management, challenges, and outcome of the disease in a Nigerian tertiary health institution. Patients and Methods: Retrospectively, medical records of male children with a diagnosis of PUVs over a 10 year period (2003-2012) were retrieved. All data in relation to the study objectives were recorded and analyzed. Results: A total of 44 patients was managed for PUV within the period. The mean age of presentation was 3.95 years with 56.8% of the patients presenting after the age of 1 year. Voiding dysfunction noted in 40 (91.0%) patients was the most common mode of presentation. The most common finding on physical examination was a palpable bladder while urinary tract infection noted in 23 (52.3%) patients was the most common complication noted. Abdominal ultrasonography revealed dilated posterior urethra in 16 (36.4%) cases, while micturating cystourethrogram revealed a dilated proximal urethra in all 35 cases in which it was done, diverticulum in 6 and vesicoureteric reflux in 9. The creatinine value at presentation ranged between 0.4 mg/dl and 4.0 mg/dl with a mean of 1.02 ± 0.93 mg/dl. Urethroscopy in 37 patients confirmed type I and type III PUV in 35 and 2 patients, respectively. Valve ablation with a diathermy bugbee electrode provided relief of obstructions in the 37 patients who underwent the procedure without any significant immediate complication. The period of follow-up ranged between 2 weeks and 3 years with a mean of 10.2 months. There was sustained improvement in urine stream, reduction in the mean creatinine concentration and incidence of UTI during follow-up. However, patients with significantly impaired renal function had a poorer outcome. Conclusion: Many patients with PUV presented late within the reviewed period. Valve ablation provided relief of

  1. Characterization and developmental expression of the amphioxus homolog of Notch (AmphiNotch): evolutionary conservation of multiple expression domains in amphioxus and vertebrates.

    PubMed

    Holland, L Z; Rached, L A; Tamme, R; Holland, N D; Kortschak, D; Inoko, H; Shiina, T; Burgtorf, C; Lardelli, M

    2001-04-15

    Notch encodes a transmembrane protein that functions in intercellular signaling. Although there is one Notch gene in Drosophila, vertebrates have three or more with overlapping patterns of embryonic expression. We cloned the entire 7575-bp coding region of an amphioxus Notch gene (AmphiNotch), encoding 2524 amino acids, and obtained the exon/intron organization from a genomic cosmid clone. Southern blot and PCR data indicate that AmphiNotch is the only Notch gene in amphioxus. AmphiNotch, like Drosophila Notch and vertebrate Notch1 and Notch2, has 36 EGF repeats, 3 Notch/lin-12 repeats, a transmembrane region, and 6 ankyrin repeats. Phylogenetic analysis places it at the base of all the vertebrate genes, suggesting it is similar to the ancestral gene from which the vertebrate Notch family genes evolved. AmphiNotch is expressed in all three embryonic germ layers in spatiotemporal patterns strikingly similar to those of all the vertebrate homologs combined. In the developing nerve cord, AmphiNotch is first expressed in the posteriormost part of the neural plate, then it becomes more broadly expressed and later is localized dorsally in the anteriormost part of the nerve cord corresponding to the diencephalon. In late embryos and larvae, AmphiNotch is also expressed in parts of the pharyngeal endoderm, in the anterior gut diverticulum, and, like AmphiPax2/5/8, in the rudiment of Hatschek's kidney. A comparison with Notch1 and Pax5 and Pax8 expression in the embryonic mouse kidney helps support homology of the amphioxus and vertebrate kidneys. AmphiNotch is also an early marker for presumptive mesoderm, transcripts first being detectable at the gastrula stage in a ring of mesendoderm just inside the blastopore and subsequently in the posterior mesoderm, notochord, and somites. As in sea urchins and vertebrates, these domains of AmphiNotch expression overlap with those of several Wnt genes and brachyury. These relationships suggest that amphioxus shares with other

  2. Prognosis and Survival in Patients With Gastrointestinal Tract Carcinoid Tumors

    PubMed Central

    Shebani, Khaled O.; Souba, Wiley W.; Finkelstein, Dianne M.; Stark, Paul C.; Elgadi, Khaled M.; Tanabe, Kenneth K.; Ott, Mark J.

    1999-01-01

    Objective To determine the impact of clinical presentation variables on the management and survival of patients with gastrointestinal (GI) tract carcinoid tumors. Methods A 20-year (1975–1995) retrospective analysis of 150 patients with GI tract carcinoid tumors at the Massachusetts General Hospital was conducted. Median follow-up was 66 months (range 1–378). Survival estimates for prognostic factors were calculated using Kaplan-Meier product limit estimators, with death from carcinoid as the outcome. Univariate analyses for each factor were obtained using a log-rank test, and multivariate survival analysis was performed. Results All but two patients underwent surgical intervention with the intent to cure (90%) or debulk the tumor (9%). Mean age at presentation was 55 ± 18 years (range 11–90). There was a slight female/male predominance (80:70). Symptoms were nonspecific; the most common were abdominal pain (40%), nausea and vomiting (29%), weight loss (19%), and GI blood loss (15%). Incidental carcinoids, discovered at the time of another procedure, occurred in 40% of patients and were noted at multiple sites throughout the GI tract. The distribution of tumors was ileojejunum (37%), appendix (31%), colon (13%), rectum (12%), stomach (4%), duodenum (1.3%), and Meckel’s diverticulum (1.3%). Of the 27 patients with documented liver metastases, carcinoid syndrome developed in only 13 patients (48%), manifested by watery diarrhea (100%), upper body flushing (70%), asthma (38%), and tricuspid regurgitation (23%). All 13 patients with carcinoid syndrome had elevated levels of 5-HIAA, but the absolute levels did not correlate with the severity of symptoms. An additional 11 patients, 3 without liver metastases, had elevated levels of 5-HIAA without any evidence of carcinoid syndrome. Multicentric carcinoid tumors occurred in 15 patients (10%), and all but one of these tumors were centered around the ileocecal valve. There was no difference in the incidence of

  3. Embryologic and anatomic basis of duodenal surgery.

    PubMed

    Androulakis, J; Colborn, G L; Skandalakis, P N; Skandalakis, L J; Skandalakis, J E

    2000-02-01

    the duct is catastrophic. With the Kocher maneuver, surgeons reconstruct the primitive mesoduodenum and achieve mobilization of the duodenum, which is useful for some surgical procedures. Surgeons should not skeletonize more than 2 cm of the first part of the duodenum. If more than 2 cm of skeletonization is done, a duodenostomy using a Foley catheter may be necessary to avoid blow-up of the stump secondary to poor blood supply. Proximal duodenojejunostomy is advised for the safe management of patients with difficult duodenal stumps. Roux-en-Y choledochojejunostomy and duodenojejunostomy divert bile and food in the treatment of the complicated duodenal diverticulum. The suspensory ligament may be transected with impunity. It should be ligated before being sectioned so that bleeding from small vessels contained within can be avoided. Failure to sever the suspensory muscle completely, which is possible if the insertion is multiple, fails to relieve the symptoms of vascular compression of the duodenum (Fig. 18). Mobilization, resection, and end-to-end anastomosis of the duodenal flexure have been performed as a uniform surgical procedure, avoiding the conventional gastrojejunostomy. With a large, penetrating posterior duodenal or pyloric ulcer, surgeons should remember that The proximal duodenum shortens because of the inflammatory process (duodenal shortening) The anatomic topography of the distal common bile duct and the opening of the duct of Santorini and the ampulla of Vater is distorted Leaving the ulcer in situ is wise Careful palpation for or visualization of the location of the ampulla of Vater or common bile duct exploration with a catheter insertion into the common bile duct and the duodenum are useful procedures In most cases, the common bile duct is located to the right of the gastroduodenal artery at the posterior wall of the first part of the duodenum. (ABSTRACT TRUNCATED) PMID:10685148

  4. Papillary cannulation and sphincterotomy techniques at ERCP: European Society of Gastrointestinal Endoscopy (ESGE) Clinical Guideline.

    PubMed

    Testoni, Pier Alberto; Mariani, Alberto; Aabakken, Lars; Arvanitakis, Marianna; Bories, Erwan; Costamagna, Guido; Devière, Jacques; Dinis-Ribeiro, Mario; Dumonceau, Jean-Marc; Giovannini, Marc; Gyokeres, Tibor; Hafner, Michael; Halttunen, Jorma; Hassan, Cesare; Lopes, Luis; Papanikolaou, Ioannis S; Tham, Tony C; Tringali, Andrea; van Hooft, Jeanin; Williams, Earl J

    2016-07-01

    that is difficult to cannulate, transpancreatic biliary sphincterotomy should be considered if unintentional insertion of a guidewire into the pancreatic duct occurs (moderate quality evidence, strong recommendation).In patients who have had transpancreatic sphincterotomy, ESGE suggests prophylactic pancreatic stenting (moderate quality evidence, strong recommendation). 6 ESGE recommends that mixed current is used for sphincterotomy rather than pure cut current alone, as there is a decreased risk of mild bleeding with the former (moderate quality evidence, strong recommendation). 7 ESGE suggests endoscopic papillary balloon dilation (EPBD) as an alternative to endoscopic sphincterotomy (EST) for extracting CBD stones < 8 mm in patients without anatomical or clinical contraindications, especially in the presence of coagulopathy or altered anatomy (moderate quality evidence, strong recommendation). 8 ESGE does not recommend routine biliary sphincterotomy for patients undergoing pancreatic sphincterotomy, and suggests that it is reserved for patients in whom there is evidence of coexisting bile duct obstruction or biliary sphincter of Oddi dysfunction (moderate quality evidence, weak recommendation). 9 In patients with periampullary diverticulum (PAD) and difficult cannulation, ESGE suggests that pancreatic duct stent placement followed by precut sphincterotomy or needle-knife fistulotomy are suitable options to achieve cannulation (low quality evidence, weak recommendation).ESGE suggests that EST is safe in patients with PAD. In cases where EST is technically difficult to complete as a result of a PAD, large stone removal can be facilitated by a small EST combined with EPBD or use of EPBD alone (low quality evidence, weak recommendation). 10 For cannulation of the minor papilla, ESGE suggests using wire-guided cannulation, with or without contrast, and sphincterotomy with a pull-type sphincterotome or a needle-knife over a plastic stent (low quality evidence, weak

  5. [Ultrasonography in acute pelvic pain].

    PubMed

    Kupesić, Sanja; Aksamija, Alenka; Vucić, Niksa; Tripalo, Ana; Kurjak, Asim

    2002-01-01

    Acute pelvic pain may be the manifestation of various gynecologic and non-gynecologic disorders from less alarming rupture of the follicular cyst to life threatening conditions such as rupture of ectopic pregnancy or perforation of inflamed appendix. In order to construct an algorithm for differential diagnosis we divide acute pelvic pain into gynecologic and non-gynecologic etiology, which is than subdivided into gastrointestinal and urinary causes. Appendicitis is the most common surgical emergency and should always be considered in differential diagnosis if appendix has not been removed. Apart of clinical examination and laboratory tests, an ultrasound examination is sensitive up to 90% and specific up to 95% if graded compression technique is used. Still it is user-depended and requires considerable experience in order to perform it reliably. Meckel's diverticulitis, acute terminal ileitis, mesenteric lymphadenitis and functional bowel disease are conditions that should be differentiated from other causes of low abdominal pain by clinical presentation, laboratory and imaging tests. Dilatation of renal pelvis and ureter are typical signs of obstructive uropathy and may be efficiently detected by ultrasound. Additional thinning of renal parenchyma suggests long-term obstructive uropathy. Ruptured ectopic pregnancy, salpingitis and hemorrhagic ovarian cysts are three most commonly diagnosed gynecologic conditions presenting as an acute abdomen. Degenerating leiomyomas and adnexal torsion occur less frequently. For better systematization, gynecologic causes of acute pelvic pain could be divided into conditions with negative pregnancy test and conditions with positive pregnancy test. Pelvic inflammatory disease may be ultrasonically presented with numerous signs such as thickening of the tubal wall, incomplete septa within the dilated tube, demonstration of hyperechoic mural nodules, free fluid in the "cul-de-sac" etc. Color Doppler ultrasound contributes to more