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Sample records for meckel diverticulum

  1. 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

  2. Carcinoid Tumor in Accidental, Asymptomatic Meckel's Diverticulum.

    PubMed

    Baranyai, Zsolt; Jósa, Valeria; Merkel, Keresztely; Zolnai, Zsofia

    2013-01-01

    Although Meckel's diverticulum is the most common congenital gastrointestinal disorder, it is controversial whether asymptomatic diverticula in adults should be respected. The authors report the case of a patient who was operated due to ileus caused by adhesions and a Meckel's diverticulum without any sign of inflammation was accidentally noted and removed. As a surprise, the pathological examination of the diverticulum proved carcinoid tumor, a neuroendocrine malignant tumor. The case raises the importance of the removal of asymptomatic Meckel's diverticulum.

  3. Carcinoid Tumor in Accidental, Asymptomatic Meckel's Diverticulum

    PubMed Central

    Baranyai, Zsolt; Jósa, Valeria; Merkel, Keresztely; Zolnai, Zsofia

    2013-01-01

    Although Meckel's diverticulum is the most common congenital gastrointestinal disorder, it is controversial whether asymptomatic diverticula in adults should be respected. The authors report the case of a patient who was operated due to ileus caused by adhesions and a Meckel's diverticulum without any sign of inflammation was accidentally noted and removed. As a surprise, the pathological examination of the diverticulum proved carcinoid tumor, a neuroendocrine malignant tumor. The case raises the importance of the removal of asymptomatic Meckel's diverticulum. PMID:24470856

  4. Perforation of Meckel's diverticulum with enteroliths.

    PubMed

    Nishikawa, Takeshi; Takei, Yoshiki; Tsuno, Nelson H; Maeda, Mamoru

    2012-08-01

    Perforation of Meckel's diverticulum with enteroliths is a rare complication. Here, we report a case of perforation of Meckel's diverticulum with enteroliths, which could be accurately diagnosed by the preoperative computed tomography (CT). A 46-year-old man with acute onset of severe abdominal pain, and a localized muscle guarding in the right hypochondrium, had a solitary stone detected in the right abdomen by the radiography. The abdominal CT revealed a saclike outpouching of the small intestine, containing air/fluid levels and an enterolith, with surrounding free air and mesenteric inflammatory change in the right paraumbilical area. He was diagnosed as the perforation of Meckel's diverticulum with enterolith, and the emergency operation was indicated. The perforated Meckel's diverticulum was identified approximately 90 cm proximal to the ileocecal valve. The diverticulum was transected at the base, and removed. The patient's postoperative course was uneventful. This case strongly suggested the ability of CT enterography to accurately diagnose pathologies involving the small intestine, such as the perforation of Meckel's diverticulum, which open premises for its use in the diagnosis of acute abdomen preoperatively.

  5. [Giant Meckel's diverticulum in an adult].

    PubMed

    Rivas, Tomas Contreras; Gallardo, Nasser Eluzen; Valenzuela, Sebastian King; Pezoa, María Elena Molina; Zúñiga, José Miguel; Muñoz, Carol Bustamante; Saralic, Biserka Spralja

    2014-10-07

    Meckel's diverticulum results from a partial persistence of the omphalomesenteric duct and is the most common congenital anomaly of the gastrointestinal tract, affecting about 2% of the general population. Its presentation as a giant Meckel's diverticulum (>5 cm) is rare and is associated with major complications. We report a case of a 53 year-old woman with constipation for at least ten years. A colonoscopy from eight years ago suggested megacolon. The patient consults in the last month for abdominal pain associated with anorexia. The computed tomography scan image suggested an ileal megadiverticulum. An exploratory laparotomy revealed a saccular dilatation of the distal ileum of 6 x 15.5 cm, located 20 cm away from the ileocecal valve. We resected the involved segment of distal ileum and performed a manual ileo-ascendo anastomosis. The biopsy showed a saccular dilatation of the wall, lined by small intestinal mucosa with areas of gastric metaplasia, supporting the diagnosis of giant Meckel's diverticulum.

  6. Meckel's diverticulitis: a rare entity of Meckel's diverticulum

    PubMed Central

    Wong, Chee S.; Dupley, Leanne; Varia, Haren N.; Golka, Darek; Linn, Thu

    2017-01-01

    Meckel's diverticulum is the most common congenital abnormality of the small intestine that results from incomplete closure of the vitelline (omphalo-mesenteric) duct. This true diverticulum, ~2 ft from the ileocecal valve commonly found on the anti-mesenteric border of the ileum, is benign and majority asymptomatic. Diagnosis challenges arise when it became inflamed or presented in following ways, for example, haemorrhage (caused by ectopic pepsin—and hydrochloric acid—secreting gastric mucosa), intestinal obstruction (secondary to intussusception or volvulus) or the presence of diverticulum in the hernia sac (Littre's hernia). We report a case of a 59-year-old male who was admitted under the surgical service at Blackpool Victoria Hospital with suspected appendicitis that turned out to be a Meckel's diverticulitis, a rare presentation of an acute abdomen. We discuss the issues involved in his investigation and management as well as perform a literature review comparing different surgical approaches. PMID:28064243

  7. Encountering Meckel's diverticulum in emergency surgery for ascaridial intestinal obstruction

    PubMed Central

    2010-01-01

    Background Meckel's diverticulum is the most common congenital anomaly of the gastrointestinal tract. In children with intestinal ascariasis, the diverticulum remains asymptomatic or rarely the Ascaris lumbricoides may lead to its complications in the presence of massive intestinal roundworm load. Given that preoperative diagnosis is seldom carried out, when Meckel's diverticulum is found at laparotomy for obstructive intestinal complications of roundworm, the diverticulum should be removed as complications may occur at any time. The aim of this study was to describe the findings of concomitant presence of Meckel's diverticulum who had surgical intervention in symptomatic intestinal ascariasis in children. Methods A retrospective case review study of 14 children who had surgical intervention for symptomatic intestinal ascariasis having the presence of concomitant Meckel's diverticulum was done. The study was done at SMHS Hospital Srinagar, Kashmir. Results A total of the 14 children who had ascaridial intestinal obstruction with concomitant presence of Meckel's diverticulum were studied. Age of children ranged from 4-12 years, male:female ratio was 1.8:1. Nine patients had asymptomatic Meckel's diverticulum, whereas 5 patients with symptomatic signs were found in the course of emergency surgery for ascaridial intestinal obstruction. Conclusion Meckel's diverticulum in intestinal ascariasis may pursue silent course or may be accompanied with complications of the diverticulitis, perforation or the gangrene. Incidental finding of the Meckel's diverticulum in the intestinal ascariasis should have removal. PMID:20529382

  8. Meckel's diverticulum perforated by a fishbone. An unusual presentation.

    PubMed

    Fonseca Sosa, Fernando Karel

    2017-02-27

    Finding a Meckel's diverticulum during a laparotomy is rare, operating on a patient for a complication of diverticulum is rare, but if this complication is the result of a perforation of the diverticulum by a foreign body, then we are in the presence of a medical curiosity.

  9. Rescue Radioguided Laparoscopy Surgery for Meckel's Diverticulum

    PubMed Central

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

    2015-01-01

    Abstract 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

  10. Meckel Diverticulum Harboring a Rare Gastrointestinal Stromal Tumor

    PubMed Central

    Berry, Andrew C.; Nakshabendi, Rahman; Kanar, Ozdemir; Hamer, Sean

    2017-01-01

    Background: Tumors within a Meckel diverticulum are a rare complication observed in only 0.5%-3.2% of symptomatic cases. The majority of tumors are benign, but some malignant tumors, such as gastrointestinal stromal tumors (GISTs) can occur. Case Report: We report the case of a 48-year-old female who presented with severe abdominal pain and nausea and was found to have a GIST arising from a Meckel diverticulum. Conclusion: The differential diagnosis of a pelvic mass in a middle-aged female presenting with gastrointestinal symptoms must remain broad. With an atypical presentation site, distinguishing benign tumors from malignant tumors such as GISTs is of paramount importance. PMID:28331460

  11. "Pantaloon" phytobezoar: an unusual cause of intestinal obstruction associated with Meckel's diverticulum.

    PubMed

    Mares, A J; Finaly, R; Mordechai, J; Motovic, A

    1993-11-01

    An unusual cause of small bowel obstruction associated with Meckel's diverticulum is described in two boys, aged 10 and 11 years. The causal factor was a phytobezoar lodged in the diverticulum in a Y-shaped "pantaloon" fashion.

  12. Perforation of Meckel's diverticulum by an intact fish bone

    PubMed Central

    Mouawad, Nicolas J; Hammond, Stephen; Kaoutzanis, Christodoulos

    2013-01-01

    Meckel's diverticulum is the most common congenital anomaly of the gastrointestinal tract, with an overall incidence of approximately 2.2%. It is generally noted incidentally during laparotomy for management of other abdominal pathology. Complications are infrequent, developing in 4% of individuals with this abnormality, and are usually seen in childhood. Herein, we discuss the case of a 52-year-old Caucasian man presenting with a 1-day history of worsening central and right-sided abdominal pain. Initial evaluation posed a broad differential however, following conservative measures and unremarkable plain films, the patient developed peritoneal signs necessitating operative intervention. During diagnostic laparoscopy, a Meckel's diverticulum was noted to be inflamed and perforated by an intact fish bone. The patient was treated successfully with a segmental resection and primary anastomosis, and had an uneventful postoperative recovery. PMID:23429021

  13. Incarceration of Meckel's diverticulum through a ventral incisional defect: a rare presentation of Littre's hernia.

    PubMed

    Salemis, N S

    2009-08-01

    Meckel's diverticulum is the most common congenital abnormality of the gastrointestinal tract and is the result of the incomplete obliteration of the omphalomesenteric duct. Herniation of Meckel's diverticulum is called Littre's hernia and is a rare occurrence. Herein is described an extremely rare case of incarcerated and strangulated Meckel's diverticulum through an incisional ventral defect in a 59-year-old female patient, who presented with manifestations of acute surgical abdomen. At emergency laparotomy, a strangulated small-bowel loop containing a Meckel's diverticulum was found, which had migrated through the subcutaneous tissues to the right iliac fossa, where a painful mass was palpated on admission. Segmental resection of the ischemic ileum was performed and the abdomen was closed without the use of a prosthetic mesh. Histopathological findings were suggestive of a true diverticulum containing heterotopic gastric mucosa.

  14. Axial Torsion of Gangrenous Meckel's Diverticulum Causing Small Bowel Obstruction

    PubMed Central

    Sasikumar, K.; Noonavath, Ravinder Naik; Sreenath, G. S.; Maroju, Nanda Kishore

    2013-01-01

    Meckel's diverticulum (MD) is a commonly encountered congenital anomaly of the small intestine. We report an extremely unusual case of an axially torted, gangrenous MD presenting as acute intestinal obstruction. A 26-year-old male patient presented to our emergency department with 3 days history of abdominal pain, distention and bilious vomiting. On laparotomy, there was minimal hemorrhagic fluid localized in right iliac fossa and small bowel loops were dilated. A MD was seen attached to the mesentery of nonadjacent small bowel by a peritoneal band. The diverticulum was axially torted and gangrenous. In addition, there was compression of ileum by the peritoneal band resulting in intestinal obstruction, which was relieved on dividing the band. Resection and anastomosis of the small bowel including the MD was performed. We hereby report a rare and unusual complication of a MD. Although treatment outcome is generally good, pre-operative diagnosis is often difficult. PMID:24741431

  15. Pulse granuloma involving Meckel's diverticulum: a case report and literature review.

    PubMed

    Karp, J K; Davis, A; Read, P J; Mashayekh, A; Bombonati, A; Palazzo, F

    2013-04-01

    Pulse granuloma is a rare, benign entity that most likely represents a reaction to vegetable material and is characterized by hyaline rings and foreign-body giant cells. We report a case of a pulse granuloma involving Meckel's diverticulum. The patient presented with abdominal pain and radiological findings consistent with Meckel's diverticulum. Microscopic examination of the resected tissue confirmed diagnosis of Meckel's diverticulum with small bowel mucosa. Peridiverticular foreign-body giant cells, hyaline rings and circular structures containing calcified basophilic granules were also identified, consistent with pulse granuloma. Pulse granulomas have been reported in a variety of locations, most commonly in the oral cavity. To the best of our knowledge, this is the first reported example of pulse granuloma in Meckel's diverticulum. Familiarity with pulse granuloma allows for the timely and accurate diagnosis of this entity, particularly in sites not previously described in the literature.

  16. Computed tomography of complicated Meckel's diverticulum in adults: a pictorial review.

    PubMed

    Platon, Alexandra; Gervaz, Pascal; Becker, Christoph D; Morel, Philippe; Poletti, Pierre-Alexandre

    2010-05-01

    OBJECTIVE: To show various CT aspects of complicated Meckel's diverticulum in adult patients to facilitate the preoperative diagnosis of this rare pathology in emergency settings. METHODS: A computer search of medical records over a 15 year period identified 23 adult patients who underwent surgery for acute abdomen generated by a complicated Meckel's diverticulum. CT images available for review were analyzed, and some specific patterns leading to the diagnosis of complicated Meckel's diverticulum are presented in this review. RESULTS: Complications were related to inflammation (14 patients), bleeding (5 patients), intestinal obstruction (3 patients), and penetrating foreign body (1 patient). The presence of a Meckel's diverticulum was usually suggested at CT scan by an abnormal outpouching, blind-ending digestive structure connected to the terminal ileum by a neck of variable caliber. Depending on the type of complications, the diverticulum was surrounded by mesenteric inflammatory changes, or presented as a localized fluid or air-fluid collection contiguous with the terminal ileum. The diverticulum was also the source of active bleeding or acted as the lead point to intestinal obstruction or intussusception. CONCLUSION: CT findings of complicated Meckel's diverticulum are polymorphic and should be considered in the evaluation of adult patients with acute abdomen.

  17. Acute appendicitis and carcinoid tumor in Meckel's diverticulum. Three pathologies in one: a case report.

    PubMed

    Mudatsakis, N; Paraskakis, S; Lasithiotakis, K; Andreadakis, E; Karatsis, P

    2011-10-01

    Incidental carcinoid tumor of the Meckel's diverticulum is an uncommon event. Herein, a case of a carcinoid tumor in Meckel's diverticulum that was incidentally found in a patient with acute appendicitis is presented. A 42-year-old Caucasian man presented with acute abdomen and clinical signs of acute appendicitis. A typical appendectomy was performed during which further abdominal exploration revealed a Meckel's diverticulum 60 cm proximal to the ileocecal valve, with an irregular and somewhat indurated serosal region on one side. A stapled diverticulectomy was performed. Pathology revealed an incidental carcinoid tumor measuring 1 cm within the Meckel's diverticulum. CT scan of the abdomen and 24-h urine 5-hydroxyindoleacetic acid results were normal. The patient had an uneventful recovery and was discharged at the 5th postoperative day. He is alive and without evidence of disease 23 months after the operation. Coexistence of acute appendicitis along with an incidental Meckel's diverticulum raises controversies in their surgical management. We discuss the issues in managing patients with two or more of these coexistent pathologies.

  18. Torsion of Meckel's diverticulum as a cause of small bowel obstruction: A case report.

    PubMed

    Murruste, Marko; Rajaste, Geidi; Kase, Karri

    2014-10-27

    Axial torsion and necrosis of Meckel's diverticulum causing simultaneous mechanical small bowel obstruction are the rarest complications of this congenital anomaly. This kind of pathology has been reported only eleven times. Our case report presents this very unusual case of Meckel's diverticulum. A 41-year-old man presented at the emergency department with complaints of crampy abdominal pain, nausea and retention of stool and gases. Clinical diagnosis was small bowel obstruction. Because the origin of obstruction was unknown, computer tomography was indicated. Computed tomography (CT)-scan revealed dilated small bowel loops with multiple air-fluid levels; the oral contrast medium had reached the jejunum and proximal parts of the ileum but not the distal small bowel loops or the large bowel; in the right mid-abdomen there was a 11 cm × 6.4 cm × 7.8 cm fluid containing cavity with thickened wall, which was considered a dilated bowel-loop or cyst or diverticulum. Initially the patient was treated conservatively. Because of persistent abdominal pain emergency laparotomy was indicated. Abdominal exploration revealed distended small bowel loops proximal to the obstruction, and a large (12 cm × 14 cm) Meckel's diverticulum at the site of obstruction. Meckel's diverticulum was axially rotated by 720°, which caused small bowel obstruction and diverticular necrosis. About 20 cm of the small bowel with Meckel's diverticulum was resected. The postoperative course was uneventful and the patient was discharged on the fifth postoperative day. We recommend CT-scan as the most useful diagnostic tool in bowel obstruction of unknown origin. In cases of Meckel's diverticulum causing small bowel obstruction, prompt surgical treatment is indicated; delay in diagnosis and in adequate treatment may lead to bowel necrosis and peritonitis.

  19. Laparoscopic Treatment of Bowel Obstruction Due to a Bezoar in a Meckel's Diverticulum

    PubMed Central

    de Moya, Marc A.

    2011-01-01

    Background and Objectives: Meckel's diverticulum is a common anomaly of the gastrointestinal tract that may result in gastrointestinal bleeding, diverticulitis, and small bowel obstruction. This report describes the use of laparoscopy to treat a rare complication of Meckel's diverticulum–small bowel obstruction due to phytobezoar impaction. More generally, it provides an example of the feasibility and utility of a laparoscopic approach to small bowel obstructions of unknown causes. Methods: A 34-year-old male presented to the emergency department complaining of episodic abdominal pain and vomiting. He had no history of abdominal surgery. His vital signs were stable, and his abdomen was distended, but only mildly tender. He had no abdominal wall hernias on examination. Imaging was consistent with small bowel obstruction. He was brought to the operating room where laparoscopy revealed a Meckel's diverticulum with an impacted phytobezoar as the source of obstruction. The diverticulum was resected and the phytobezoar removed laparoscopically. Results: The patient recovered well and was discharged home on the third postoperative day, tolerating a regular diet. Conclusions: Phytobezoar impaction in a Meckel's diverticulum causing small bowel obstruction is a rare event. It can be effectively treated laparoscopically. This case provides an example of the potential utility of laparoscopy in treating small bowel obstructions of unclear etiology. PMID:22643518

  20. Perforated Meckel's diverticulum containing a carcinoid tumor successfully treated by the laparoscopic approach: Case report

    PubMed Central

    Curbelo-Peña, Yuhamy; Dardano-Berriel, Juan; Guedes-De la Puente, Xavier; Saladich-Cubero, Maria; Stickar, Tomas; De Caralt-Mestres, Enric

    2016-01-01

    Mekel's diverticulum is a gastrointestinal malformation. Occurs in one of every 40 patients. It is usually asymptomatic whereas complications can be developed in 2% to 4%. The report is based on a 41-year old male, who attended to emergency, complaining of right lower quadrant abdominal pain. Blood tests showed high level of inflammatory markers. With acute appendicitis as presumptive diagnosis, laparoscopy was performed. The intraoperative findings were: a perforated Mekel's diverticulum with normal cecal appendix. Mechanical diverticular resection was made. The patient was successfully recovered from surgery. Histopathology examination showed: Meckel's diverticulum perforated with acute inflammation and neuroendocrine tumor (G1) pT1. Mekel's diverticulum is rarely affected by inflammatory complications and just few cases are associated with tumors. However, has ever been described before, coexisting both situations, being our patient the first reported with this exceptional clinical presentation, and treated successfully by laparoscopic approach. PMID:27251847

  1. Fishbone perforation through a Meckel's diverticulum: a rare laparoscopic diagnosis in acute abdominal pain.

    PubMed

    Christensen, H

    1999-08-01

    The use of diagnostic laparoscopy in acute abdominal pain, especially when patients have been admitted for acute pain in the lower abdominal quadrants, improves the accuracy of diagnosis and leads to improvements in treatment procedures. A case is reported of a 24-year-old woman admitted under suspicion of appendicitis. The appendix was found to be normal, and a perforation caused by a fishbone was discovered in a Meckel's diverticulum. The diverticulum was resected by a combined laparoscopic and open procedure. Diagnostic laparoscopy should be performed routinely in cases of acute abdominal pain in the lower quadrants of suspected appendiceal origin to avoid overlooking other causes of the symptoms.

  2. Unusual association of Meckel's diverticulum with double appendix – A rare finding

    PubMed Central

    Panda, Sangram Keshari; Prasad, C.; Tirkey, Roshni; Rajesh, V.; Mishra, Jagadananda; Dora, Rajesh Kumar

    2014-01-01

    INTRODUCTION Appendix duplication is an extremely rare congenital anomaly that is seen in 0.004–0.009% of appendectomy specimens. Duplicated appendix may be associated with number of congenital anomalies. PRESENTATION OF CASE In this case report, we are presenting a rare case of duplicated vermiform appendix with a co-existing Meckel's diverticulum. DISCUSSION Anomalies of appendix are rare and duplication of vermiform appendix is extremely rare. In 1936, Cave classified appendiceal duplication for the first time which was modified by Wallbridge in 1963 into three types. Concomitant malformations or duplications of the large intestine or the genitourinary system may be present, especially in types B1 and C probably due to their similar embryological origin. Here we are presenting a very rare case report of type B1 appendix anomaly associated with Meckel's diverticulum. CONCLUSION Surgeons should be aware of these conditions because of the possible clinical implications. PMID:25462057

  3. 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.

  4. A Triad of Congenital Diaphragmatic Hernia, Meckel's Diverticulum, and Heterotopic Pancreas

    PubMed Central

    Mandhan, Parkash; Al Saied, Amer; Ali, Mansour J.

    2014-01-01

    Congenital diaphragmatic hernia is a common developmental anomaly encountered by paediatric surgeons. It is known to be associated with extradiaphragmatic malformations, which include cardiac, renal, genital, and chromosomal abnormalities. Herein, we report a newborn born with concurrent congenital diaphragmatic hernia, Meckel's diverticulum, and heterotopic pancreatic tissue. This is the first case report of such a triad with description of possible mechanisms of the development. PMID:24804135

  5. [Meckel's diverticulum duplication. Case report and literature review].

    PubMed

    Blando-Ramírez, Juan Salvador; Ocádiz-Carrasco, Jesús; Gutiérrez-Padilla, Ruth Alicia; Vicencio-Tovar, Alfredo; Ricardez-García, José Abenamar

    2014-01-01

    Antecedentes: el divertículo de Meckel es la anomalía congénita más común del tubo digestivo. El diagnóstico preoperatorio es difícil de establecer, por su variable presentación clínica. Caso clínico: paciente femenina de 61 años de edad, con antecedente de cuadros de oclusión intestinal repetitivos ocho meses antes de nuestra valoración. En el último internamiento tuvo: desequilibrio hidroelectrolítico, dolor persistente y falta de respuesta al tratamiento médico; por esto se le realizó una laparotomía exploradora que descartó el síndrome adherencial, y como hallazgo dos defectos diverticulares a 40 y 70 cm de la válvula ileocecal, con torsión sobre su eje. El reporte histopatológico confirmó la existencia de dos divertículos de Meckel con cambios de tipo inflamatorio hemorrágico y mucosa gástrica heterotópica de tipo antral. Conclusión: la duplicación del divertículo de Meckel es un hallazgo raro, con solo nueve casos publicados en la bibliografía internacional. El diagnóstico se realiza, frecuentemente, como hallazgo transoperatorio. El tratamiento del divertículo sintomático es quirúrgico; sin embargo, en el asintomático existe controversia y depende del criterio del cirujano y de las características propias de cada paciente.

  6. [Adenocarcinoma mucoproductor in Meckel's diverticulum. Case report and review].

    PubMed

    Ramírez-González, Luis Ricardo; Leonher-Ruezga, Karla Lisseth; Plascencia-Posadas, Francisco Javier; Jiménez-Gómez, José Alfredo; López-Zamudio, José; Fuentes-Orozco, Clotilde

    2014-01-01

    Antecedentes: el divertículo de Meckel es la anomalía congénita más frecuente en el intestino delgado, que resulta de la obliteración incompleta del conducto onfalomesentérico; su diagnóstico suele ser incidental, pocas veces con sangrado, obstrucción, diverticulitis o en casos raros una neoplasia. Caso clínico: paciente femenina de 67 años de edad, que inició su padecimiento con síntomas urinarios (disuria, polaquiuria, pujo y tenesmo vesical). El cistograma demostró: defecto en el domo de la vejiga, bordes irregulares y efecto de compresión. La tomografía computada reportó: vejiga con lesión hipodensa infiltrante en el domo vesical, al resecarla se encontró un divertículo de Meckel con un tumor infiltrante; el estudio histopatológico confirmó el diagnóstico y demostró los bordes libres; todos los estudios de extensión resultaron sin actividad tumoral. Conclusiones: el adenocarcinoma mucoproductor derivado de un divertículo de Meckel es una entidad clínica que debido a sus síntomas inespecíficos y variabilidad de presentación sólo se diagnostica por lo que se aprecia en las imágenes radiológicas. Este adenocarcinoma tiene un alto índice de mortalidad pero baja prevalencia.

  7. 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

  8. Severe acute abdomen caused by symptomatic Meckel's diverticulum in three children with trisomy 18.

    PubMed

    Hayashi, Anri; Kumada, Tomohiro; Furukawa, Oki; Nozaki, Fumihito; Hiejima, Ikuko; Shibata, Minoru; Kusunoki, Takashi; Fujii, Tatsuya

    2015-10-01

    Meckel's diverticulum (MD) is the most prevalent congenital anomaly of the gastrointestinal tract and often presents a diagnostic challenge. Patients with trisomy 18 frequently have MD, but the poor prognosis and lack of consensus regarding management for neonates has meant that precise information on the clinical manifestations in infants and children with MD is lacking. We describe the cases of three children with trisomy 18 who developed symptomatic MD. Intussusception was diagnosed in Patient 1, intestinal volvulus in Patient 2, and gastrointestinal bleeding in Patient 3. All three patients underwent surgical treatment and only the Patient 1 died due to pulmonary hypertensive crisis. The other two patients experienced no further episodes of abdominal symptoms. In patients with trisomy 18, although consideration of postoperative complications and prognosis after surgical treatment is necessary, symptomatic MD should carry a high index of suspicion in patients presenting with acute abdomen.

  9. Gallstone ileus associated with impaction at Meckel's diverticulum: Case report and literature review.

    PubMed

    Lamba, Harveen K; Shi, Yiwen; Prabhu, Ajita

    2016-11-27

    Gallstone ileus due to erosion of one or more gallstones into the gastrointestinal tract is an uncommon cause of small bowel obstruction. The site of impaction is usually distal ileum, and less commonly the jejunum, colon, duodenum, or stomach. We report a rare case of gallstone ileus with impaction at the proximal small bowel and at a Meckel's diverticulum (MD) in a 64-year-old woman managed with laparoscopic converted to open small bowel resections. Patient was discharged home in stable condition and remained asymptomatic at 6-mo follow up. We review the current literature on surgical approaches to MD and gallstone ileus. Diverticulectomy or segmental resection is preferred for complicated MD. For gallstone ileus, simple enterolithotomy or segmental resection are the most the most favored especially in older co-morbid patients due to lower mortality rates and the rarity of recurrent gallstone ileus. In addition, laparoscopy has been increasingly reported as a safe approach to manage gallstone ileus.

  10. Wireless Capsule Endoscopy Detects Meckel's Diverticulum in a Child with Unexplained Intestinal Blood Loss.

    PubMed

    Xinias, I; Mavroudi, A; Fotoulaki, M; Tsikopoulos, G; Kalampakas, A; Imvrios, G

    2012-09-01

    Meckel's diverticulum (MD) is the most common congenital anomaly of the gastrointestinal (GI) tract, affecting about 2% of the population. Most cases of Meckel's diverticula are asymptomatic. The diagnosis of symptomatic MD is often difficult to make. We report the case of an 8-year-old boy who presented with GI bleeding due to MD. The diagnostic difficulties after an initial negative endoscopic evaluation and the diagnostic value of the various endoscopic procedures are discussed. The patient had suffered from bright red stools for 20 h before hospital admission. GI scintigraphy with (99m)Tc-Na-pertechnetate was negative for heterotopic gastric tissue in the small bowel area. Colonoscopy performed in order to exclude Crohn's disease was also negative. He was placed on ranitidine at a dose of 6 mg/kg body weight twice daily. The patient remained asymptomatic over a period of 6 months before he was readmitted due to macroscopic rectal bleeding. Upper endoscopy and colonoscopy used to investigate the source of bleeding showed normal macroscopic findings. Radiolabeling of blood constituents with (99m)Tc on delayed imaging showed radionucleotide concentration in the ascending and transverse colon suggestive of a lesion in the ileocecal area. Further investigation with the use of wireless capsule endoscopy revealed a MD. Wireless capsule endoscopy may thus be indicated for patients with GI blood loss when other diagnostic methods, such as upper and lower endoscopy and colonoscopy, have failed to identify the source of bleeding.

  11. Unusual presentation of obscure Meckel diverticulum treated with robot-assisted diverticulectomy

    PubMed Central

    Pandey, Sagar; Fan, Miao; Xu, Zhe; Yan, Chaogui; Zhu, Junfeng; Li, Xiuhong

    2016-01-01

    Abstract Introduction: Meckel diverticulum (MD) is the most common congenital abnormality of gastrointestinal tract. Tough believed to occur in 2% of population, most of them remain veiled because majority are clinically asymptomatic and remain obscure in radiological examination. Clinical Findings and Diagnosis: A 26-year-old male with episodic black colored stool since last 10 years. Tough symptomatic, diagnosis of pathological lesion, and the bleeding site could not be established with any of the sophisticated diagnostic technique. After 10 years, it was finally diagnosed as MD with careful observation of bowel loops on computed tomography enterography (CTE) where remnant of vitelline vessel and hyper-enhancing nodule are seen along the wall of diverticular loop. Interventions and outcomes: The patient underwent robot assisted laparoscopic surgery with excision of diverticular loop. To the best of our knowledge, this robot-assistant Meckel diverculectomy is probably the first reported surgical procedure in PubMed. Follow-up for 3 month showed no complication or recurrence. Conclusion: Every case is unique and we must be aware and remain alert in tracing the possible morphological variation of the case. Here, we present one unique but rare feature of MD, which helped us in making diagnosis. PMID:27741148

  12. Acute symptomatic Meckel diverticulum management. Our experience on seven consecutive cases.

    PubMed

    Robustelli, Umberto; Manguso, Francesco; Armellino, Mariano Fortunato; Mannelli, Maria Pia; Massa, Maria Rosaria; Forner, Anna Lucia; Bellotti, Roberto; Ambrosino, Francesco; Severino, Beatrice Ulloa

    2014-01-01

    Meckel's diverticulum (MD ) is the most common congenital anomaly of the gastrointestinal tract. We revalued clinical records of patients discharged from Unit of Urgent and General Surgery of Highly Specialized Hospital "A.O.R.N. Antonio Cardarelli" of Naples with diagnosis of acute pathology associated to complicated MD from 1(st) January 2011 to 30(th) November 2012. Seven consecutive cases have been chosen: five males (71,4%) and two females (28,6%). The age ranges over from 13 to 50 years with a 28 years average. Four of them were submitted to emergency surgical intervention for hemorrhage from gastro-enteric tract (57%), two for bowel obstruction (29%) and one for acute appendicitis (14%). In all cases sample was send to histological examination. Two samples showed normal epithelial mucosa. Four of them showed ectopic mucosa inside the diverticulum: three gastric and one pancreatic ectopic mucosa focal areas. The last case showed normal epithelial cells but with ulcerated and hemorrhagic areas. Four samples of patients with hemorrhage from gastroenteric tract showed at histological examination: a case of normal mucosa, a case of gastric mucosa areas, one of pancreatic ectopic tissue and the last with normal mucosa but ulcerated and with bleeding areas.In our experience we never speculated that acute symptomatology depended on complicated MD and diagnosis was always done during laparotomy. We think that MD removal is always the correct choice, so that future complications such as neoplasm can be avoided. MD simple resection by Stapler at the base of diverticulum is the correct choice.

  13. Meckel's diverticulum

    MedlinePlus

    ... series References Kahn E, Daum F. Anatomy, histology, embryology, and developmental anomalies of the small and large ... M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health ...

  14. Meckel's Diverticulum

    MedlinePlus

    ... Birth Control Family HealthInfants and Toddlers Kids and Teens Pregnancy and Childbirth Women Men SeniorsIn The NewsYour Health ... Birth Control Family HealthInfants and Toddlers Kids and Teens Pregnancy and Childbirth Women Men SeniorsIn The NewsYour Health ...

  15. Incidental finding of carcinoid tumor on Meckel's diverticulum: case report and literature review, should prophylactic resection be recommended?

    PubMed

    Caracappa, Daniela; Gullà, Nino; Lombardo, Francesco; Burini, Gloria; Castellani, Elisa; Boselli, Carlo; Gemini, Alessandro; Burattini, Maria Federica; Covarelli, Piero; Noya, Giuseppe

    2014-05-08

    Meckel's diverticulum (MD) is the most common congenital anomaly of the gastrointestinal tract and is caused by incomplete obliteration of the vitelline duct during intrauterine life. MD affects less than 2% of the population. In most cases, MD is asymptomatic and the estimated average complication risk of MD carriers, which is inversely proportional to age, ranges between 2% and 4%. The most common MD-related complications are gastrointestinal bleeding, intestinal obstruction and acute phlogosis. Excision is mandatory in the case of symptomatic diverticula regardless of age, while surgical treatment for asymptomatic diverticula remains controversial. According to the majority of studies, the incidental finding of MD in children is an indication for surgical resection, while the management of adults is not yet unanimous. In this case report, we describe the prophylactic resection of an incidentally detected MD, which led to the removal of an occult mucosal carcinoid tumor. In literature, the association of MD and carcinoid tumor is reported as a rare finding. Even though the strategy for adult patients of an incidental finding of MD during surgery performed for other reasons divides the experts, we recommend prophylactic excision in order to avoid any further risk.

  16. [Johann Friedrich Meckel the Younger (1781-1833), an extremely important naturalist and scholar].

    PubMed

    Schultka, Rüdiger; Göbbel, Luminita

    2002-11-01

    Johann Friedrich Meckel the Younger (1781-1833) belongs to the famous scientists of the 19th century. His research work is enormous. Important termini e.g. diverticulum Meckelii, cartilago Meckelii, Meckel syndrome and Meckel Serres law reflect the scientific results obtained by Meckel. He worked as a professor of anatomy, pathology and zoology at the University of Halle, a town in the Central Germany. Meckel founded the scientific teratology. In the literature he is also referred to the German Cuvier. On 8 April 1802, J. F. Meckel defended his doctoral thesis "De cordis conditionibus abnormibus". On occasion of the 200th anniversary of this event, we like to honor J. F. Meckel the famous German anatomist. Therefore, during the 97th session of the Anatomische Gesellschaft at Halle, a satellite symposium "From Meck el to genom" was held.

  17. [Johann Friedrich Meckel, Jr. as founder of scientific teratology].

    PubMed

    Schierhorn, H

    1984-01-01

    n the occasion of the 150th anniversary of his death, the scientific work of the famous German anatomist Johann Friedrich Meckel (1781 to 1833) in Halle is appreciated. The Younger Meckel is counted to the most outstanding figures in the history of anatomy and medicine in the first third of 19th century. According to his founded knowledges in the normal, comparative, and pathologic anatomy and embryology he was able to give a scientific argument of malformations first of all in the history of medicine and biology. The edition of Meckel's Handbook of Pathologic Anatomy (in German language; 1st vol. 1812) is the birth of scientific teratology. Through his contributions to teratology Meckel directly participated in the raising of general pathology and pathologic anatomy to scientific disciplines. Meckel's interceding for C. F. Wolff's theory of epigenesis, not at last by translation of Wolff's paper "De formatione intestinorum" (1768 to 1769) into the German language, accelerated the development of the general and special embryology during the 19th century. In the contemporary medicine the succeeding eponyms are reminding of the imposing German physician and anatomist: the Meckel's diverticulum of ileum (1809), the Meckel's cartilage of the mandibular arch (1820) and the so-called Meckel syndrome (1822).

  18. Meckel's diverticulectomy - slideshow

    MedlinePlus

    ... anatomy URL of this page: //medlineplus.gov/ency/presentations/100092.htm Meckel's diverticulectomy - series—Normal anatomy To use the sharing features on this page, please enable JavaScript. Go to slide 1 out of 5 Go to slide 2 ...

  19. The legacy of Johann Friedrich Meckel the Elder (1724-1774): a 4-generation dynasty of anatomists.

    PubMed

    Janjua, Rashid M; Schultka, Rüdiger; Goebbel, Luminita; Pait, T Glenn; Shields, Christopher B

    2010-04-01

    Few families have had an impact on medicine to equal that of the Meckel family. Johann Friedrich Meckel the Elder is of special interest to the neurosciences, given that his dissertation on the fifth cranial nerve included the first description of the arachnoid space investing the trigeminal nerve into the middle fossa. He was interested in neuroanatomy, along with botany and pathology of the inguinal hernia and the lymphatic system. His mentors included the eminent Albrecht von Haller (1708-1777) and August Buddaeus (1695-1753), and he extended his own influence on the work of Giovanni Morgagni and Alexander Monro II. He spent the latter part of his life in Berlin as professor of anatomy, botany, and obstetrics. His son, Philipp Friedrich Theodor Meckel (1755-1803), was one of the founders of the current collection of anatomic specimens at the University of Halle and provided important groundwork for the practice of obstetrics. Meckel the Elder's grandson, Johann Friedrich Meckel the Younger (1781-1833), was a more prolific investigator and founder of the science of teratology. Many anatomic structures, such as Meckel's diverticulum, bear his name, and he vastly expanded the university's anatomic collection. August Albrecht Meckel (1789-1829), Meckel the Younger's brother, practiced legal medicine and investigated avian anatomy but died prematurely from tuberculosis. August's son, Johann Heinrich Meckel (1821-1856), took the instructor's position in pathologic anatomy at the University of Berlin that his great-grandfather had held at the Charité. After his untimely death from pulmonary disease, his position was filled by Rudolf Virchow. The history of this family is discussed in detail.

  20. Bony anomaly of Meckel's cave.

    PubMed

    Tubbs, R Shane; Salter, E George; Oakes, W Jerry

    2006-01-01

    This study describes the seemingly rare occurrence of bone formation within the proximal superior aspect of Meckel's cave thus forming a bony foramen for the proximal trigeminal nerve to traverse. The anatomy of Meckel's cave is reviewed and the clinical potential for nerve compression from this bony anomaly discussed.

  1. Meningiomas of Meckel's cave.

    PubMed

    Delfini, R; Innocenzi, G; Ciappetta, P; Domenicucci, M; Cantore, G

    1992-12-01

    A series of 16 patients with meningiomas of Meckel's cave is reported. Trigeminal neuralgia, typical or atypical, was the initial symptom in 10 patients (62.5%). At admission, trigeminal signs and symptoms were present in 15 patients (93.7%); in 7 patients (43.7%), trigeminal dysfunction was combined with the impairment of other cranial nerves. On retrospective analysis, these patients fall into two clinical groups that differ also in prognosis. Group 1 comprises eight patients with trigeminal signs and symptoms only. These patients had small meningiomas strictly affecting Meckel's cave. Total removal of the tumor was achieved in seven of eight patients, without adjunctive postoperative neurological deficits. In this group, there were no tumor recurrences. Group 2 comprises the other eight patients in whom trigeminal dysfunction was combined with impairment of other cranial nerves. These patients had large tumors arising from Meckel's cave and secondarily invading the cavernous sinus (five patients) or extending into the posterior fossa (two patients) or largely growing into the middle fossa (one patient). Total removal was achieved in only one patient, and a worsening of the preoperative neurological status was observed in four patients; there were three cases of tumor progression. A subtemporal intradural approach (used in the past in every case) is still used for the small tumors of Group 1 with good results. Since 1985, for tumors involving the cavernous sinus, we have employed a frontotemporal craniotomy with extradural clinoidectomy and superior and lateral approach to the cavernous sinus. When the tumor extends toward the posterior fossa, we use a combined temporosuboccipital-transpetrosal approach.(ABSTRACT TRUNCATED AT 250 WORDS)

  2. Meningiomas of Meckel's cave.

    PubMed

    Nijensohn, D E; Araujo, J C; MacCarty, C S

    1975-08-01

    A retrospective review of 12 cases of meningioma of Meckel's cave involving the Gasserian ganglion or the trigeminal posterior root (or both) seen at the Mayo Clinic during a 20-year period suggested three clearly defined clinical groups. One group (the largest) had typical trigeminal neuralgia and an excellent prognosis after the removal of the easily detachable mass that was impinging on the ganglion. A second group, with meningiomas en plaque embedded in the ganglion, had a history of atypical trigeminal face pain without neurological deficit, but the prognosis for pain relief was not as good as in the previous group. A third group had a history of face dysesthesias and pain, objective trigeminal sensory loss, and multiple cranial nerve deficit; these patients had meningiomas with histological signs of mitotic activity and a poor prognosis, with return of intractable pain and recurrence of the tumor.

  3. A review on gastric diverticulum

    PubMed Central

    2012-01-01

    The gastric fundal diverticulae are rare. They can present with variable symptoms. We are enclosing a literature review on gastric fundal diverticulum. Lessons have emerged which may help in the management of this rare condition in future. PMID:22257431

  4. [Anatomic variants of Meckel's cave on MRI].

    PubMed

    Benoudiba, F; Hadj-Rabia, M; Iffenecker, C; Fuerxer, F; Bekkali, F; Francke, J P; Doyon, D

    1998-10-01

    Magnetic resonance imaging (MRI) gives an accurate analysis of Meckel's cave variability. Images were acquired in 50 patients with several sections for anatomical comparison. Using several sections, MRI is a suitable method for better analysis of the trigeminal cistern. The most frequent findings are symmetrical trigeminal cisterns. Expansion of Meckel's cave or its disappearance has pathological significance.

  5. Cavernous hemangioma of Meckel's cave. Case report.

    PubMed

    Fehlings, M G; Tucker, W S

    1988-04-01

    A case of a cavernous hemangioma located within Meckel's cave and involving the gasserian ganglion is described in a patient presenting with facial pain and a trigeminal nerve deficit. Although these lesions have been reported to occur in the middle fossa, this is believed to be the first case of such a vascular malformation arising solely from within Meckel's cave.

  6. 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

  7. 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.

  8. Transcervical diverticulectomy for Killian-Jamieson diverticulum.

    PubMed

    Siow, Sze Li; Mahendran, Hans Alexander; Hardin, Mark

    2015-03-13

    Surgery for Killian-Jamieson diverticulum of the esophagus is scarcely reported in the literature owing to the rarity of this entity. This is a case report of such a diverticulum and a description of the transcervical diverticulectomy that we performed on a 49-year-old lady. The patient was investigated for symptoms of gastroesophageal reflux disease and was diagnosed with a left-sided Killian-Jamieson diverticulum.

  9. Adult peripheral neuroepithelioma in Meckel's cave.

    PubMed

    Midroni, G; Dhanani, A N; Gray, T; Tucker, W S; Bilbao, J M

    1991-02-01

    A case of peripheral neuroepithelioma arising from the trigeminal nerve in Meckel's cave is presented. The discussion emphasizes the pathological criteria for the diagnosis of a peripheral neuroepithelioma and the current controversy about the classification of this and related tumors.

  10. Perforation of jejunal diverticulum with ectopic pancreas.

    PubMed

    Shiratori, Hiroshi; Nishikawa, Takeshi; Shintani, Yukako; Murono, Koji; Sasaki, Kazuhito; Yasuda, Koji; Otani, Kensuke; Tanaka, Toshiaki; Kiyomatsu, Tomomichi; Hata, Keisuke; Kawai, Kazushige; Nozawa, Hiroaki; Ishihara, Soichiro; Fukayama, Masashi; Watanabe, Toshiaki

    2017-04-01

    Perforation of jejunal diverticulum is a rare complication. Here, we report a case of jejunal diverticulum penetration with surrounding ectopic pancreas. An 83-year-old female patient was admitted to our department with acute onset of severe abdominal pain lasting for half a day. Abdominal computed tomography showed outpouching of the small intestine that contained air/fluid, with multiple surrounding air bubbles in the mesentery of the small intestine. She was diagnosed with penetration of the small intestine, and an emergency laparotomy was indicated. The penetrated jejunal diverticulum was identified ~20-cm distal to the ligament of Treitz. Partial resection of the jejunum was performed, and her postoperative course was uneventful. The pathological findings confirmed diverticulum penetration into the mesentery and severe inflammation at the site, with surrounding ectopic pancreas. Furthermore, the pancreatic ducts were opened through the penetrated diverticulum. This rare case shows that the ectopic pancreas might have caused penetration of jejunal diverticulum owing to the pancreatic duct opening through the diverticulum.

  11. High resolution CT of Meckel's cave.

    PubMed

    Chui, M; Tucker, W; Hudson, A; Bayer, N

    1985-01-01

    High resolution CT of the parasellar region was carried out in 50 patients studied for suspected pituitary microadenoma, but who showed normal pituitary gland or microadenoma on CT. This control group of patients all showed an ellipsoid low-density area in the posterior parasellar region. Knowledge of the gross anatomy and correlation with metrizamide cisternography suggest that the low density region represents Meckel's cave, rather than just the trigeminal ganglion alone. Though there is considerable variation in the size of Meckel's cave in different patients as well as the two sides of the same patient, the rather constant ellipsoid configuration of the cave in normal subjects will aid in diagnosing small pathological lesions, thereby obviating more invasive cisternography via the transovale or lumbar route. Patients with "idiopathic" tic douloureux do not show a Meckel's cave significantly different from the control group.

  12. Meckel's cave meningiomas with subarachnoid hemorrhage.

    PubMed

    Rosenberg, G A; Herz, D A; Leeds, N; Strully, K

    1975-06-01

    Two patients with Meckel's Cave meningiomas were initially hospitalized as a result of subarachnoid hemorrhage. Four-vessel angiography was necessary to exclude other causes of bleeding while demonstrating these lesions. Apoplectic presentation in both cases led to early diagnosis and successful surgical therapy. A review of the literature reveals subarachnoid hemorrhage to be a rarity in association with meningiomas. The two patients currently reported are believed to be the only examples on record of hemorrhagic meningiomas arising from the region of Meckel's Cave.

  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. Meckel's cave tuberculoma with unusual infratemporal extension.

    PubMed

    Kesavadas, Chandrasekharan; Somasundaram, S; Rao, Ravi M; Radhakrishnan, V V

    2007-07-01

    The authors describe a rare case of intracranial tuberculoma of the Meckel's cave and cavernous sinus with extension into the infratemporal fossa causing widening of the foramen ovale and adjacent bone destruction. The rarity of the lesion and the unusual extension of the lesion are presented with a brief review of literature.

  15. Xanthoma in Meckel's cave. A case report.

    PubMed

    Kimura, H; Oka, K; Nakayama, Y; Tomonaga, M

    1991-04-01

    A case of xanthoma located within Meckel's cave and the semilunar ganglion is described in a patient with a trigeminal nerve deficit. This is the first case of xanthoma in such a location. The distinctive morphological appearance is illustrated and the possible histogenesis is discussed.

  16. Male urethral diverticulum uncommon entity: Our experience

    PubMed Central

    Thakur, Naveen; Sabale, Vilas Pandurang; Mane, Deepak; Mullay, Abhirudra

    2016-01-01

    Out pouching of the urethral wall could be congenital or acquired. Male urethral diverticulum (UD) is a rare entity. We present 2 cases of acquired and 1 case of congenital male UD. Case 1A: 40 year male presented with SPC and dribbling urine. Clinically he had hard perineal swelling. RGU revealed large diverticulum in proximal bulbar, irregular narrow distal urethra and stricture just beyond diverticulum. Managed with perineal exploration, stone removal, diverticulum repair and urethroplasty using excess diverticular wall. Case 2A: 30 year male with obstructive lower urinary tract symptoms (LUTS). Retrograde urethrogram (RGU) revealed bulbar urethral diverticulum akin to anterior urethral valve, managed endoscopically. 1 year follow up urine stream satisfactory. Case 3A: 27 year male previously operated large proximal bulbar urethral stone with incontinence. RGU large proximal bulbar UD with wide open sphincter. Treated with excision of excess diverticular wall and penile clamp with pelvic exercises for incontinence. Congenital UD develops due to imperfect closure of urethral fold, Acquired UDs occurs secondary to stricture, infection, trauma, long standing impacted urethral stones or scrotal / skin flap urethroplasties. RGU and MCU are the best diagnostic technique to confirm and characterize the UD. Urethral diverticulectomy with urethral reconstruction is the recommended treatment for UD. UD is a rare entity. Especially in males, congenital are even more rare. Management should be individualized. Surgery can involve innovation and/or surgical modifications. We used excess diverticular flap for stricture urethroplasty in one case. PMID:28057997

  17. The jugular bulb diverticulum. A radioanatomic investigation.

    PubMed

    Wadin, K; Wilbrand, H

    1986-01-01

    Two hundred and forty-five temporal bone specimens were examined radiographically. Subsequently the topographic relationship between the jugular fossa and surrounding structures was evaluated in plastic casts of the specimens. Fifty-eight casts showed a high jugular fossa and in 17 a jugular bulb diverticulum was found. A diverticulum is regarded as an anomaly of the high jugular bulb and presumably has a potential for expansion. Most frequently a diverticulum was directed medially into the space between the internal acoustic meatus, the vestibular aqueduct and the posterior cranial fossa. Seven diverticula reached the level of the internal acoustic meatus. Encroachment upon the vestibular aqueduct was seen in 4 casts and both the internal acoustic meatus and the cochlear aqueduct were very close to the diverticulum. A few diverticula were directed postero-laterally close to the facial canal and the stapedius muscle. The investigation was supplemented with a selected clinical material of radiographs of temporal bones with high fossae. The results corresponded to those of the experimental investigation. The jugular bulb diverticulum is a relatively common feature and should be regarded as an anomaly with a potential to give rise to clinical symptoms consequent to its intrusion upon surrounding structures.

  18. Female urethral diverticulum presenting with acute urinary retention: Reporting the largest diverticulum with review of literature.

    PubMed

    Pradhan, Manas Ranjan; Ranjan, Priyadarshi; Kapoor, Rakesh

    2012-04-01

    Female urethral diverticulum is a rare entity with diverse spectrum of clinical manifestations. It is a very rare cause of bladder outlet obstruction and should be considered as a differential diagnosis in females presenting with acute urinary retention associated with a vaginal mass. Strong clinical suspicion combined with thorough physical examination and focused radiological investigations are vital for its diagnosis. Herein we report a case of giant urethral diverticulum presenting with acute urinary retention in a young female. It was managed by excision and urethral closure, and is the largest urethral diverticulum reported till date in the literature.

  19. Synchronous Perforation of the Ileum and Meckel’s Diverticulum Due to Tuberculosis

    PubMed Central

    Zachariah, Sanoop K.

    2010-01-01

    Perforation of the Meckel’s diverticulum due to tuberculosis is a rare phenomenon. A 45 years old male who presented with perforation peritonitis was found to have a synchronous dual perforation involving the ileum and the Meckel’s diverticulum, due to intestinal tuberculosis. In addition to this, the Meckel’s diverticulum was found to have a daughter diverticulum (diverticulum within diverticulum), which was probably pulsion or traction diverticulum as it did not have all layers of the intestinal wall. Such daughter diverticulum associated with a Meckel’s diverticulum is very unusual. All these factors make this a unique case which is hence reported here. PMID:27956994

  20. Meckel-Gruber syndrome (dysencephalia splanchnocystica).

    PubMed

    Shetty, B Prasanna; Alva, Nandakishore; Patil, Shankargouda; Shetty, Rohit

    2012-09-01

    Meckel-Gruber syndrome is a rare lethal autosomal recessive condition which was first described by Johann Friedrich Meckel in 1822 and GB Gruber in 1934. More than 200 cases have been reported worldwide with an incidence ranging from 1:13,250 to 1:140,000 live births. A 21-year-old female with G3 A2 L0, presented with twin pregnancy with history of previous two anencephalic pregnancies. The present pregnancy was a preterm vaginal delivery of female twins by face presentation at 35 weeks of gestation (diamniotic dichorionic twin gestation). Neonatal autopsy revealed classical triad of occipital encephalocele, polycystic kidneys and lungs with postaxial polydactyly. This case is presented for its rarity and its documented occurrence in Gujarati Indians.

  1. Primary melanoma of Meckel's cave: case report.

    PubMed

    Falavigna, Asdrubal; Borba, Luis A B; Ferraz, Fernando Antonio Patriani; Almeida, Giovana Camargo de; Krindges Júnior, José Valentim

    2004-06-01

    We present a case of trigeminal neuralgia with cranial normal magnetic resonance image (MRI) and computed tomography. The pain was not relieved by carbamazepine and microvascular decompression surgery was done. After two months the pain was similar to the condition before surgery. At this time, MRI showed an expansive lesion in Meckel's cave that was treated with radical resection by extra-dural approach. The pathologic examination revealed a primary melanoma. The follow-up after six months did not show abnormalities.

  2. Giant congenital diverticulum of the right atrium.

    PubMed

    Tomar, Munesh; Radhakrishnan, Sitaraman; Iyer, Krishna Subramony; Shrivastava, Savitri

    2008-01-01

    Congenital diverticulum of heart is a rare entity, which may arise from the atria, atrial appendages, coronary sinus or the ventricles. A 3-year-old child presented with history of early fatigability for 6 months and recent upper respiratory tract infection. Chest X-ray and echocardiogram revealed marked right atrial enlargement. At surgery, a right atrial diverticulum was excised under cardiopulmonary bypass. Pathology revealed thickened endocardium with edema and myocardial fiber hypertrophy. Our experience with this rare congenital disease is presented along with a review of the literature.

  3. Aspergillosis of the Petrous Apex and Meckel's Cave.

    PubMed

    Ederies, Ash; Chen, Joseph; Aviv, Richard I; Pirouzmand, Farhad; Bilbao, Juan M; Thompson, Andrew L; Symons, Sean P

    2010-05-01

    Cranial cerebral aspergillosis is a rare entity in immunocompetent patients. Invasive disease involving the petrous apex and Meckel's cave has rarely been described. We present a case of localized invasive petrous apical and Meckel's cave disease in an immunocompetent patient who presented with hemicranial neuralgic pain.

  4. Intratentorial lipomas with Meckel's cave and cerebellopontine angle extension.

    PubMed

    Ruocco, M J; Robles, H A; Rao, K C; Armonda, R A; Ondra, S L

    1995-08-01

    An unusual case of bilateral intratentorial lipomas with extension into Meckel's caves and the cerebellopontine angle is described. Surgical and histopathologic correlation demonstrate that the lipoma encased the trigeminal nerve in Meckel's caves. The origin of the lipoma from the anteromedial margins of the tentorium is discussed and correlated with a recently proposed theory for the development of intracranial lipomas.

  5. 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.

  6. The Meckel's cartilage in human embryonic and early fetal periods.

    PubMed

    Wyganowska-Świątkowska, Marzena; Przystańska, Agnieszka

    2011-06-01

    The Meckel's cartilage itself and the mandible are derived from the first branchial arch, and their development depends upon the contribution of the cranial neural crest cells. The prenatal development of the Meckel's cartilage, along with its relationship to the developing mandible and the related structures, were studied histologically in human embryos and fetuses. The material was obtained from a collection of the Department of Anatomy, and laboratory procedures were used to prepare sections, which were stained according to standard light-microscopy methods. The formation of the Meckel's cartilage and its related structures was observed and documented. Some critical moments in the development of the Meckel's cartilage are suggested. The sequential development of the Meckel's cartilage started as early as stage 13 (32 days) with the appearance of condensation of mesenchymal cells within the mandibular prominence. During stage 17 (41 days), the primary ossification center of the mandible appeared on the inferior margin of the Meckel's cartilage. The muscular attachments to the Meckel's cartilage in embryos were observed at stage 18 (44 days). Their subsequent movement into the developing mandible during the 10th week seemed to diminish the role of the Meckel's cartilage as the supportive core; simultaneously, the process of regression within the cartilage was induced. During the embryonic period, the bilateral Meckel's cartilages were in closest contact at the posterior surface of their superior margins, preceding formation of the symphyseal cartilage at this site. The event sequence in the development of the Meckel's cartilage is finally discussed.

  7. Female urethral diverticulum: cases report and literature

    PubMed Central

    2014-01-01

    Introduction A female urethral diverticulum is an uncommon pathologic entity. It can manifest with a variety of symptoms involving the lower urinary tract. Our objective is to describe the various aspects of the diverticulum of the female urethra such as etiology, diagnosis and treatment. Cases presentation We report five female patients, without prior medical history. They had different symptoms: dysuria in four cases, recurrent urinary tract infection in three cases, stress incontinence in two cases and hematuria in two cases. All patients had dyspareunia. The physical exams found renitent mass located in the endovaginal side of urethra which drained pus in two cases. Urethrocystography found a diverticulum of urethra in all cases. Our five patients underwent diverticulotomy by endovaginal approach. The course after surgical treatment was favorable. The urinary catheter was withdrawn after ten days. Some recurrent symptoms were reported. Conclusion Evaluation of recurrent urinary complaints in young women can lead to the finding of a diverticulum of urethra. Urethrocystography can reveal this entity. Diverticulectomy by endovaginal approach is the best choice for treatment. PMID:24528809

  8. Adenocarcinoma of Meckel's cave: case report.

    PubMed

    Tacconi, L; Arulampalam, T; Johnston, F; Symon, L

    1995-12-01

    A rare localization of adenocarcinoma in Meckel's cave is reported in a 58-year-old woman, who had a 5-month history of pain and altered sensation in the second division of the left trigeminal nerve. Removal of the lesion was achieved by a subtemporal route. Histology showed this to be an adenocarcinoma. The patient underwent investigations for a primary tumor; the investigations were all negative, and the patient was subsequently treated with a course of radiotherapy. At 4-month follow-up, there was no evidence of recurrence, and she remains symptomatically well. The various mechanisms of secondary localization are discussed.

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

    PubMed Central

    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

  10. [Pathophysiology, diagnosis and treatment of Zenker's diverticulum].

    PubMed

    Hussain, T; Maurer, J T; Lang, S; Stuck, B A

    2017-02-01

    Zenker's diverticulum occurs at the dorsal pharyngoesophageal junction through Killian's dehiscence and is caused by increased intrabolus pressure. Symptomatic disease most frequently affects male elderly patients. Primary symptom is oropharyngeal dysphagia, as well as regurgitation of undigested food, halitosis, and chronic aspiration. A barium swallow study is performed to confirm diagnosis. Treatment options for symptomatic patients include open surgery, as well as transoral rigid or flexible endoscopic procedures. Transoral procedures have become the main treatment approach over the past year thanks to reduced intraoperative complication rates compared to open surgery. The septum dividing the diverticulum from the esophagus is most commonly divided by a stapler device, papillotome, or laser. For high-risk patients who are poor candidates for general anesthesia, the procedure can be performed via flexible endoscopy in awake patients, albeit at an increased risk of recurrence.

  11. Severe halitosis as presentation of epiphrenic diverticulum.

    PubMed

    Montes de Oca Megías, Elizabeth; Noa Pedroso, Guillermo; Martínez Alfonso, Miguel Ángel; Pérez Triana, Frank; Seijas Cabrera, Osvaldo; Garcia Jordá, Elsy

    2016-11-01

    Halitosis is a common condition, whose main etiology does not respond to diseases of the gastrointestinal system. Epiphrenic diverticula are a rare cause of this manifestation, thus they are not frequent and they are usually asymptomatic. However, they may produce symptoms with inability for patient. A patient with severe halitosis is presented. In his study, an epiphrenic diverticulum is diagnosed and the laparoscopic abdominal diverticulectomy is performed with a complete resolution of symptomatology.

  12. 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

  13. Killian-Jamieson diverticulum: real-time sonographic findings.

    PubMed

    Bonacchi, Giovanni; Seghieri, Marta; Becciolini, Marco

    2016-12-01

    Killian-Jamieson diverticulum (KJD) is a pharyngoesophageal diverticulum that can be observed during a neck ultrasound examination. Because of its position, it is frequently misinterpreted as a thyroid nodule. We present a case of an incidental finding of KJD, where changes in shape during dynamic scanning led to the correct diagnosis, preventing from invasive procedures such as fine needle aspiration.

  14. Congenital enlargement of the suburethral diverticulum in a Holstein calf

    PubMed Central

    Vogel, Susan R.; Doré, Elizabeth; Breteau, Gaëlle; Desrochers, André; Babkine, Marie; Nichols, Sylvain

    2011-01-01

    A 3-month-old, female Holstein calf was examined because of marked perineal swelling and tenesmus of 4-days duration. A congenitally enlarged urethral diverticulum was diagnosed using fluoroscopic and ultrasonographic imaging techniques. The urethral diverticulum was surgically resected and the perineal area was reconstructed. PMID:21532825

  15. Simple closure of a perforated duodenal diverticulum: "a case report".

    PubMed

    Yokomuro, Shigeki; Uchida, Eiji; Arima, Yasuo; Mizuguchi, Yoshiaki; Shimizu, Tetsuya; Kawahigashi, Yutaka; Kawamoto, Masao; Takahashi, Ken; Arai, Masao; Arima, Yasuo; Tajiri, Takashi

    2004-10-01

    Spontaneous perforation of a duodenal diverticulum is a rare but serious complication with significant mortality rates. Just over 100 cases have been reported in the world literature. One case of perforated duodenal diverticulum treated by simple closure is reported. An elderly female was admitted to our hospital with an acute abdomen. Computed tomography of the abdomen showed retroperitoneal air around the duodenum and right kidney. Laparotomy with a Kocher maneuver disclosed a perforated diverticulum in the second portion of the duodenum. Although diverticulectomy is the most common treatment, simple closure of the perforated duodenal diverticulum with drainage was performed to avoid injury to the distal common bile duct and ampulla of Vater, which were close to the diverticulum. The patient has fully recovered and has been asymptomatic with no signs of recurrence for 25 months.

  16. Johann Friedrich Meckel the Younger (1781-1833).

    PubMed

    Seidler, E

    1984-08-01

    On the occasion of the 200th anniversary of the birthday of Johann Friedrich Meckel the Younger (1781-1833) it is appropriate to examine his contributions to the field of clinical genetics. Special emphasis is given to his laws of "diversity" and "reduction." These deal respectively with the evolutionary and developmental differences between organisms and the reasons for similarities in development of parts of an organism and the parts of different organisms. Meckel is an important pioneer of modern clinical teratology because he did not restrict his studies to normal development, but rather concentrated on its aberrations in his reflections on the history of development.

  17. Rare cause of trigeminal neuralgia: Meckel's cave meningocele.

    PubMed

    Alobaid, Abdullah; Schaeffer, Todd; Virojanapa, Justin; Dehdashti, Amir R

    2015-07-01

    The most common etiology of classic trigeminal neuralgia is vascular compression. However, other causes must be excluded. It is very unlikely that a meningocele presents with symptomatic trigeminal neuralgia. We present a rare case of a patient presenting with left trigeminal neuralgia. Thin-slice CT and MRI showed a transclival Meckel's cave meningocele. The patient underwent endoscopic repair of the meningocele, which resulted in complete resolution of her symptoms. Meckel's cave meningocele or encephalocele should be considered among the differential diagnoses of trigeminal neuralgia. Meningocele repair should be suggested as the first treatment option in this rare situation.

  18. Gastric Diverticulum of the Prepyloric Region: A Rare Presentation of Gastric Diverticulum

    PubMed Central

    Tsitsias, T.; Finch, J.G.

    2012-01-01

    Gastric diverticula are the least common diverticula of the gastrointestinal tract. The two main categories identified are congenital and acquired ones. Diverticula of the antrum, prepyloric or pyloric, are extremely rare and usually asymptomatic. We report a diverticulum of the prepyloric region in a patient with a background of peptic ulcer disease and antiplatelet treatment who became symptomatic and was treated successfully with proton pump inhibitors. PMID:22679402

  19. An unusual case of cardiac tamponade: ruptured subaortic diverticulum.

    PubMed

    Salemi, Arash; Lee, Ben; Ivascu, Natalia; Webber, Geoffrey; Paul, Subroto

    2010-05-01

    Cardiac diverticula are rare congenital anomalies found as outpouchings from various chambers of the heart. We present a case of a diverticulum arising from the membranous septum with free rupture into the pericardial space and tamponade.

  20. Rare Mesenteric Location of Meckel’s Diverticulum, A Forgotten Entity: A Case Study Aboard USS Kitty Hawk

    DTIC Science & Technology

    2004-11-01

    or freqttcncy. His past medical history was significant only for long standing nodular acne treated chronically with 100 inu oral doxycycline twice...whorled gray-tan mass with some cystic spaces that appeared to surface beneath the submucosa but did not appear to communicate with the mueosal surface...The remaining nodule was notable for an area of light brown to tan whorled tissue that revealed cystic yel- low-green material. There was also a

  1. Esophageal epiphrenic diverticulum associated with diffuse esophageal spasm

    PubMed Central

    Matsumoto, Hideo; Kubota, Hisako; Higashida, Masaharu; Manabe, Noriaki; Haruma, Ken; Hirai, Toshihiro

    2015-01-01

    Introduction Esophageal diverticulum, a relatively rare condition, has been considered to be associated with motor abnormalities such as conditions that cause a lack of coordination between the distal esophagus and lower esophageal sphincter. Presentation of case We herein report a case of esophageal epiphrenic diverticulum associated with diffuse esophageal spasm. A 73-year-old woman presented with dysphagia and regurgitation. Imaging examinations revealed a right-sided esophageal diverticulum located about 10 cm above the esophagogastric junction. High-resolution manometry revealed normal esophageal motility. However, 24-h pH monitoring revealed continuous acidity due to pooling of residue in the diverticulum. An esophageal epiphrenic diverticulum was diagnosed and resected thoracoscopically. Her dysphagia recurred 2 years later. High-resolution manometry revealed diffuse esophageal spasm. Discussion The diverticulum in the present case was considered to have been associated with diffuse esophageal spasm. The motility disorder was likely not identified at the first evaluation. Conclusion In this case, the patient’s symptoms spontaneously resolved without any treatment; however, longer-term follow-up is needed. PMID:26143577

  2. Left Ventricle Diverticulum with Partial Cantrell's Syndrome

    PubMed Central

    El Kouache, Mustapha; Labib, S.; El Madi, A.; Babakhoya, A.; Atmani, S.; Abouabdilah, Y.; Harandou, M.

    2012-01-01

    Cantrell syndrome is a very rare congenital disease associating five features: a midline, upper abdominal wall disorder, lower sternal abnormality, anterior diaphragmatic defect, diaphragmatic pericardial abnormality, and congenital abnormalities of the heart. In this paper, we report a case of partial Cantrell's syndrome with left ventricular diverticulum, triatrial situs solitus, ventricular septal defect, dextrorotation of the heart, an anterior pericardial diaphragmatic defect, and a midline supraumbilical abdominal wall defect with umbilical hernia. The 5-month-old patient underwent a successful cardiac surgical procedure. A PTFE membrane was placed on the apex of the heart to facilitate reopening of the patient's chest. Postoperative course was uneventful. The patient was discharged with good clinical condition and with a normal cardiac function. PMID:24826242

  3. Johann Friedrich Meckel, the Younger (1781-1833).

    PubMed

    Gluecklich, B

    1976-09-01

    Meckel's name is well known in the medical world because of the intestinal abnormality that carries his eponym. We are less familiar with his personal life and his far-reaching achievement as a prominent anatomist. Also described is his complex personality as well as the indelible impression he made on his contemporaries.

  4. [A case of epidermoid tumor inside the Meckel's cave].

    PubMed

    Ohta, H; Ottomo, M; Nakamura, T; Yokota, A

    1997-10-01

    An epidermoid tumor inside the Meckel's cave is rare. The symptoms caused by this tumor include trigeminal neuralgia, facial hypesthesia and paresis of the 3rd, 4th and 6th nerves. A case of epidermoid tumor inside Meckel's cave was presented. A 54-year-old female who had complained of 3rd nerve palsy with right facial hypesthesia since 3 years before was referred to our clinic. Magnetic resonance imaging (MRI) showed the tumor at Meckel's cave. The tumor removal was performed using the orbito-zygomatic approach. To avoid injury of the internal carotid artery and nerves inside the cavernous sinus, removal of the tumor inside the capsule was carried out leaving the capsule. Postoperatively, the tumor removal was confirmed by MRI and improvement of the 3rd and the 5th nerve palsy was obtained three months after surgery. This case suggests that the capsule of the tumor inside the Meckel's cave should be allowed to remain to avoid injury of the adjacent 4th, 5th and 6th nerves and of the internal carotid artery.

  5. Perforated Meckel’s Diverticulum in a 3-day-old Neonate; A Case Report

    PubMed Central

    Frooghi, Mehdi; Bahador, Ali; Golchini, Alireza; Haghighat, Mahmood; Ataollahi, Maryam; Javaherizadeh, Hazhir

    2016-01-01

    Perforation of Meckel’s diverticulum is a rare complication in neonatal period. A 3-dayold term male neonate was transferred to our emergency room due to bowel perforation. Surgical exploration was done and perforated Meckel’s diverticulum was detected. Pathological report of the tissue showed inflamed diverticulum with heterotopic gastric mucosa. This is the first report of Meckel’s diverticulum perforation in a neonate in our country PMID:27957297

  6. [Genealogy of the Meckel anatomy family (from Hem[b]sbach)].

    PubMed

    Viebig, Michael; Schultka, Rüdiger

    2002-11-01

    The main goal of our investigations is to complete the genealogy of the famous Meckel dynasty. It is important to answer a lot of questions which have remained unanswered until now. During the investigations we were able to find the names of three children who died early and were dissected by their father Philipp Friedrich Theodor Meckel (1755-1803). Besides, it was possible to extend distinctly our knowledge of the various genealogical lines of the Meckel family.

  7. Spontaneous Rupture of Adenocarcinoma of Meckel’s Diverticulum- A Rare Entity

    PubMed Central

    2015-01-01

    Meckel’s diverticulum is a true diverticulum from remnant of vitelline duct. It is most common congenital anomaly of intestine. It is associated with intestinal atresia and anorectal anomalies. It contains heterotrophic epithelium. Most common heterotrophic mucosa is gastric followed by pancreatic tissue. Adenocarcinoma arising from Meckel’s diverticulum is very rare. Spontaneous perforation of adenocarcinoma rarely reported. Most of perforation reported in Meckel’s diverticulum diagnosed during intraoperative period. This is a case report of spontaneous rupture of adenocarcinoma of Meckel’s diverticulum, which was managed with primary resection and ileostomy. PMID:26672729

  8. Huge uterine-cervical diverticulum mimicking as a cyst.

    PubMed

    Chufal, S; Thapliyal, Naveen; Gupta, Manoj; Pangtey, Nirmal

    2012-01-01

    Here we report an incidental huge uterine-cervical diverticulum from a total abdominal hysterectomy specimen in a perimenopausal woman who presented with acute abdominal pain. The diverticulum was mimicking with various cysts present in the lateral side of the female genital tract. Histopathological examination confirmed this to be a cervical diverticulum with communication to uterine cavity through two different openings. They can attain huge size if left ignored for long duration and present a diagnostic challenge to clinicians, radiologists, as well as pathologists because of its extreme rarity. Therefore, diverticula should also be included as a differential diagnosis. Its histopathological confirmation also highlights that diverticula can present as an acute abdomen, requiring early diagnosis with appropriate timely intervention. Immunohistochemistry CD 10 has also been used to differentiate it from a mesonephric cyst.

  9. Urinary bladder diverticulum and its association with malignancy: an anatomical study on cadavers.

    PubMed

    Prakash; Rajini, T; Kumar Bhardwaj, Ajay; V, Jayanthi; Kalyani Rao, P; Singh, Gajendra

    2010-01-01

    Present work was directed to study the prevalence and anatomical basis of diverticulum formation and its association with malignancy inside the urinary bladder on cadavers. Urinary bladder diverticulum and its complications including malignancy has been reported by different authors based on their study on radiological findings and endoscopy. Present study was undertaken on cadavers to meet the aforementioned objectives. Thirty properly embalmed cadavers (19 males and 11 females) of different ages were dissected. Sagittal section of pelvis was studied. Urinary bladder was incised to expose the interior and it was examined for the presence of diverticulum (including number and location). Detailed history of the cause of death of cadavers with diverticulum was studied to determine how many of them suffered from urinary bladder diverticular carcinoma. 23.4% cadavers (31.6% males and 9.1% females) showed presence of urinary bladder diverticulum. The location of the diverticulum in all the cadavers was on superior and lateral side of the ureteric opening on the posterior surface of the urinary bladder. Diverticulum of one male cadaver aged 74 years was complicated by malignancy. Our study observed greater prevalence of diverticulum formation as compared to previous reports. In the present work, 14.3% diverticulum of the urinary bladder showed malignant change, which is more than earlier reports in the literature. Urinary bladder diverticulum should neither be neglected nor ignored. Appropriate early treatment (including the cause) of the diverticulum should be undertaken to avoid complications like malignancy which will finally ensure longevity.

  10. Iatrogenic Uterine Diverticulum in Pregnancy After Robotic-assisted Myomectomy.

    PubMed

    DeStephano, Christopher C; Jernigan, Amelia M; Szymanski, Linda M

    2015-01-01

    Uterine diverticula are rare outpouchings of the uterus associated with abnormal uterine bleeding, pelvic pain, dysmenorrhea, and adverse obstetric events. At the time of cesarean delivery at 36 5/7 weeks' gestation during the patient's first pregnancy and 36 6/7 weeks during the second pregnancy, a fundal iatrogenic uterine diverticulum at the site of a prior robotic-assisted myomectomy was noted. The outpouching communicated with the endometrial cavity and was extremely attenuated, palpably 2 to 3 mm thick. Further research is needed to determine the incidence of iatrogenic uterine diverticulum after robotic myomectomy and whether these malformations increase the risk of adverse obstetric outcomes.

  11. 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

  12. Epidermoid tumor within Meckel's cave--case report.

    PubMed

    Nadkarni, T; Dindorkar, K; Muzumdar, D; Goel, A

    2000-01-01

    A rare case of an epidermoid tumor lying within Meckel's cave is reported. A 27-year-old housewife presented with complaints of right facial hypesthesia for two and a half years. On examination she had partial loss of touch sensation in the right trigeminal nerve distribution. Magnetic resonance imaging revealed a tumor located at the right petrous apex and cavernous sinus. The epidermoid tumor was excised through a lateral basal subtemporal approach. The symptoms resolved following surgery.

  13. Tuberculoma in the Meckel's cave: a case report.

    PubMed

    Goel, A; Nadkarni, T; Desai, A P

    1999-09-01

    A case of an intracranial tuberculoma located within the confines of the Meckel's cave is presented. The patient was young, non-immunocompromised and otherwise in good health. The granuloma mingled with the fibres of the trigeminal nerve. The lesion mimicked a trigeminal neurinoma in its clinical presentation, preoperative investigations and intraoperative consistency and vascularity. The rarity of the location and possible mode of transmission of infection to this site is discussed. The literature on this subject is briefly reviewed.

  14. Lesions in Meckel's cave: variable presentation and pathology.

    PubMed

    Beck, D W; Menezes, A H

    1987-11-01

    A series of 12 patients with mass lesions arising from Meckel's cave is presented. Patients' age on presentation ranged from 13 months to 71 years. Nine of the 12 patients had symptoms referable to the fifth cranial nerve, but only three complained of facial pain. The 12 patients presented eight different pathological entities, including meningioma, lipoma, schwannoma, malignant melanotic schwannoma, arachnoid cyst, neurofibroma, epidermoid tumor, and chordoma. Computerized tomography and magnetic resonance imaging were most useful in localizing the lesion to Meckel's cave. All 12 patients underwent a subtemporal approach to the lesion, and gross total removal was achieved in 11. Postoperative results were excellent with no increased neurological deficits seen 3 months postoperatively. Most patients had resolution of the cranial nerve deficits except for fifth nerve function, which was impaired in nine patients postoperatively. This series demonstrates that lesions in Meckel's cave can have a varied and unusual presentation, as well as an assortment of pathology. Total removal of lesions in this area resulted in relief of symptoms in most patients, with minimum morbidity.

  15. Tuberculoma of the Cavernous Sinus and Meckel's Cave in a Child.

    PubMed

    Kumar, V R Roopesh; Madhugiri, Venkatesh S; Verma, Surendra Kumar; Barathi, S Deepak; Yadav, Awdhesh Kumar; Bidkar, Prasanna

    2013-01-01

    Tuberculous infection of the cavernous sinus and Meckel's cave is extremely rare. In this report, we describe a patient with tuberculoma of the cavernous sinus and Meckel's cave, extending to the petrous apex. The patient underwent microsurgical excision of the lesion and antitubercular chemotherapy resulting in a good outcome. We describe the diagnostic difficulties and review the relevant literature.

  16. Extra-axial ependymoma of posterior fossa extending to the Meckel's cave.

    PubMed

    Torun, Fuat; Tuna, Hakan; Bozkurt, Melih; Deda, Haluk

    2005-06-01

    An extra-axial ependymoma extending from the left cerebellopontine corner to the Meckel's cave is reported. This lesion's clinical, radiological, and histological characteristics are presented. This tumor's infrequent extra-axial location, extension to the Meckel's cave and possible origin are discussed.

  17. 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.

  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. Meckel's cave access: anatomic study comparing the endoscopic transantral and endonasal approaches.

    PubMed

    Van Rompaey, Jason; Suruliraj, Anand; Carrau, Ricardo; Panizza, Benedict; Solares, C Arturo

    2014-04-01

    Recent advances in endonasal endoscopy have facilitated the surgical access to the lateral skull base including areas such as Meckel's cave. This approach has been well documented, however, few studies have outlined transantral specific access to Meckel's. A transantral approach provides a direct pathway to this region obviating the need for extensive endonasal and transsphenoidal resection. Our aim in this study is to compare the anatomical perspectives obtained in endonasal and transantral approaches. We prepared 14 cadaveric specimens with intravascular injections of colored latex. Eight cadavers underwent endoscopic endonasal transpterygoid approaches to Meckel's cave. Six additional specimens underwent an endoscopic transantral approach to the same region. Photographic evidence was obtained for review. 30 CT scans were analyzed to measure comparative distances to Meckel's cave for both approaches. The endoscopic approaches provided a direct access to the anterior and inferior portions of Meckel's cave. However, the transantral approach required shorter instrumentation, and did not require clearing of the endonasal corridor. This approach gave an anterior view of Meckel's cave making posterior dissection more difficult. A transantral approach to Meckel's cave provides access similar to the endonasal approach with minimal invasiveness. Some of the morbidity associated with extensive endonasal resection could possibly be avoided. Better understanding of the complex skull base anatomy, from different perspectives, helps to improve current endoscopic skull base surgery and to develop new alternatives, consequently, leading to improvements in safety and efficacy.

  20. A Case of Symptomatic Tracheal Diverticulum and Surgical Resection as a Treatment Modality

    PubMed Central

    Lee, Shin-Young; Joo, Seok; Lee, Geun Dong; Ham, Seok Jin; Park, Chul Hwan; Lee, Sungsoo

    2016-01-01

    Tracheal diverticulum is often diagnosed incidentally and, due to its rarity, there is no standard treatment. It is a benign entity, but has the potential to cause specific symptoms, such as chronic upper respiratory infection and chronic cough. Symptomatic tracheal diverticulum can be medically treated, but likelihood of recurrence is high. We report a case of surgical resection of symptomatic tracheal diverticulum to prevent recurrence. PMID:27734005

  1. [Acute Meckel's diverticulitis perforated by a foreign body].

    PubMed

    Pahomeanu, M; Anghelide, A; Mandache, F

    1976-01-01

    The authors present the case of a patient with acute, right iliac fossa abdominal syndrome, simulating acute apendicitis. In the course of the intervention it was noted that the syndrome was determined by an acute Meckel diverticulitis, perforated by a foreign body (fish bone). In view of making the diagnosis of acute diverticulitis, that cannot be assessed before surgery, the importance is stressed of the correlation of the clinical aspects with the apendicular lesions found in the course of the operation, and, when there is no satisfactory concordance, careful checking of the cecum becomes necessary, as well as of the right annexe and of the ileon over at least three feet.

  2. 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

  3. 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.

  4. Surgical Treatment of Epiphrenic Diverticulum: Technique and Controversies.

    PubMed

    Andolfi, Ciro; Wiesel, Ory; Fisichella, P Marco

    2016-11-01

    The goal of this article is to illustrate the current minimal invasive approaches to patients with epiphrenic diverticulum in terms of preoperative evaluation, surgical technique, and outcomes. Two techniques will be presented: a laparoscopic and a video-assisted thoracic repair. Indications for each technique will be discussed as well as proper patient selection and management. Current controversies in the treatment of patients with this rare disease will be addressed.

  5. [Johann Friedrich Meckel the Younger (1781-1833) and modern teratology].

    PubMed

    Klunker, Rudyard; Göbbel, Luminita; Musil, Anette; Tönnies, Holger; Schultka, Rüdiger

    2002-11-01

    Among other special topics Johann Friedrich Meckel the Younger concentrated his scientific researches on the systematic investigations of the human and animal malformations. He explored many samples which were part of his private anatomical collection. Today, the Institute of Anatomy and Cell Biology possesses a number of important teratological preparations which Meckel and his graduate students minutely investigated (e.g. the individuals to the Meckel, Klippel Feil and Hanhart syndrome). The goals of our studies are to identify the samples originating from the Meckel Collections, and to reinvestigate them with modern methods. Two objects (brainless malformation, Halle I, and neural tube defect, Halle II) were analysed by comparative genomic hybridization (CGH). These results obtained are published in Toennies et al. (2002).

  6. Unusual association of multiple congenital left ventricular diverticulum and cerebrovascular events in an adult.

    PubMed

    Alkan, Mustafa Beyazıt; Bilgin, Murat; Zihni, Burcu; Nalbantgil, Sanem

    2015-04-01

    Congenital ventricular diverticulum is a rare and usually asymptomatic cardiac malformation which can cause major complications such as systemic thromboembolism, infective endocarditis, cardiac rupture, heart failure, arrhythmia and sudden death. We present a case with multiple congenital left ventricular diverticulum admitted to hospital with sudden onset right-sided hemiplegia and dysarthria.

  7. [Paratrigeminal epidermoid originated in the meckel's cave (author's transl)].

    PubMed

    Miyasaka, Y; Morii, S; Tachibana, S; Saito, T; Ohwada, T

    1976-05-01

    We have reported a case of paratrigeminal epidermoid originated in the Meckel's cave. A 30 years old man was admitted to the department of neurosurgery with chief complaints of continuous right facial pain and numbness of entire right side of the face of three years duration. The positive neurological findings were hypesthesia over the distribution of the right trigeminal nerve, absence of the right corneal reflex and nystagmus on left lateral gaze. Caloric response was absent on the right side, however the audiogram showed normal. Cerebrospinal fluid examination was within normal limit. Electromyography showed giant spike in the right masseter and temporal muscles. Radiogram of the skull revealed a bone-destroying lesion over the medial florr of the right middle fossa involving the apex of the petrous bone (Fig 1). Right carotid angiography showed straightening and forward displacement of C4- C5 portion of the carotid siphon in the lateral view, and vertebral angiography showed displacement of basilar artery to the left side, upward displacement of the right posterior cerebral and superior cerebellar artery in the frontal view (Fig. 2, 3). At the time of operation, an epidermoid was identified in the Meckel's cave and totally removed microsurgically. Small amount of the tumor extending into the posterior fossa was also removed (Fig. 4, 5, 6, 7). Postoperative course was uneventfull except for an episode of headache and high fever of short duration, suggesting the signs of meningial irritation. Two months postoperativelly patient was relived of facial pain and was discharged with sensory impairment of the right trigeminal nerve distribution. Only 11 cases of paratrigeminal epidermoid, including the cases localized in the Meckel's cave have been reported in the past literatures (Table 1). In this paper we have discussed about the symptomatology and clinical data of paratrigeminal epidermoid and compared with those of trigeminal neurinoma, and meningioma originated

  8. Meckel-Gruber Syndrome with unilateral renal agenesis.

    PubMed

    Uysal, Fatma; Uysal, Ahmet

    2015-04-01

    Meckel-Gruber Syndrome (MKS) is an autosomal recessive disorder, characterized by a combination of central nervous system malformation (occipital encephalocele), post-axial polydactyly, and enlarged polycystic kidney dysplasia. With a recurrence risk of 25% this lethal syndrome can be detected in early screening by ultrasound. However, to the authors' knowledge, association of MKS with unilateral renal agenesis was reported only once until now. Here, we describe a case of 26-year primigravida with 23 weeks pregnancy whose detailed sonographical examination of the fetus revealed large encephalocele through the posterior fontanelle microcephaly, anhydramnios, unilateral left enlarged polycystic kidney and right sided renal agenesis. The pregnancy was wilfully terminated on medical grounds. Risk for subsequent pregnancies was explained to the parents.

  9. Meningioma involving Meckel's cave: transpetrosal surgical anatomy and clinical considerations.

    PubMed

    Choo, Daniel I; Steward, David L; Pensak, Myles L

    2002-09-01

    Meningiomas originating in Meckel's cave (MC) are uncommon lesions that represent 1% of all intracranial meningiomas. Innovations in skull base surgery have enabled resection of these lesions with less morbidity, but require an intimate knowledge of both lesional pathology and regional microneuroanatomy. To review the surgical and clinical considerations involved in the management of MC meningiomas, we retrospectively reviewed data from patients who underwent transpetrosal resection of primary MC meningiomas between 1984 and 1998. Of 146 patients who underwent transpetrosal removal of meningiomas, 7 were believed to have tumors originating in MC. All 7 patients presented with trigeminal dysfunction, facial pain, and/or headache. Complete tumor removal was achieved in 5 of the 7 patients. Facial hypoesthesia or anesthesia, paralysis of cranial nerve VI, and ophthalmoplegia were among the postoperative complications encountered. Meningiomas of MC represent treatable lesions whose diagnosis requires prompt imaging of patients with trigeminal dysfunction and symptoms of facial pain and headache.

  10. Fate of Meckel's cartilage chondrocytes in ocular culture

    SciTech Connect

    Richman, J.M.; Diewert, V.M.

    1988-09-01

    Modulation of the chondrocyte phenotype was observed in an organ culture system using Meckel's cartilage. First branchial arch cartilage was dissected from fetal rats of 16- and 17-day gestation. Perichondrium was mechanically removed, cartilage was split at the rostral process, and each half was grafted into the anterior chamber of an adult rat eye. The observed pattern of development in nonirradiated specimens was the following: hypertrophy of the rostral process and endochondral-type ossification, fibrous atrophy in the midsection, and mineralization of the malleus and incus. A change in matrix composition of the implanted cartilage was demonstrated with immunofluorescence staining for cartilage-specific proteoglycan (CSPG). After 15 days of culture, CSPG was found in the auricular process but not in the midsection or rostral process. In order to mark the implanted cells and follow their fate, cartilage was labeled in vitro with (3H)thymidine (3H)TdR). Immediately after labeling 20% of the chondrocytes contained (3H)TdR. After culturing for 5 days, 20% of the chondrocytes were still labeled and 10% of the osteogenic cells also contained radioactive label. The labeling index decreased in both cell types with increased duration of culture. Multinucleated clast-type cells did not contain label. Additional cartilages not labeled with (3H)TdR were exposed to between 20000 and 6000 rad of gamma irradiation before ocular implantation. Irradiated cartilage did not hypertrophy or form bone but a fibrous region developed in the midsection. Cells of the host animal were not induced to form bone around the irradiated cartilage. Our studies suggest that fully differentiated chondrocytes of Meckel's cartilage have the capacity to become osteocytes, osteoblasts, and fibroblasts.

  11. Spontaneous Bladder Rupture Masquerading as Pseudo-diverticulum.

    PubMed

    Raghavendran, M; Kumar, Kiran G; Venugopal, A; Prasad, Shiva; Venkatesh, H A

    2017-05-01

    Spontaneous bladder rupture is rare. Presentation is non-specific and in absence of history of trauma, radiation, inflammatory conditions and other leading causes, there is considerable diagnostic delay. Absence of clear cut diagnostic signs leads to increased morbidity and mortality. In many patients, omentum seals perforation, giving diverticular appearance in Cystogram. The objective of this case report is to highlight important specific diagnostic points in history and radiology which will help in clear, early diagnosis and treatment causing immense benefit to the patient. We would also like to highlight a specific radiological point to distinguish true from pseudo-diverticulum.

  12. Delayed Failure after Endoscopic Staple Repair of an Anterior Spine Surgery Related Pharyngeal Diverticulum

    PubMed Central

    Al-Khudari, Samer; Succar, Eric; Ghanem, Tamer; Gardner, Glendon M.

    2013-01-01

    We present a rare complication of endoscopic staple repair of a pharyngeal diverticulum related to prior anterior cervical spine surgery. A 70-year-old male developed a symptomatic pharyngeal diverticulum 2 years after an anterior cervical fusion that was repaired via endoscopic stapler-assisted diverticulectomy. He initially had improvement of his symptoms after the stapler-assisted approach. Three years later, the patient presented with dysphagia and was found to have erosion of the cervical hardware into the pharyngeal lumen at the site of the prior repair. We present the first reported case of late hardware erosion into a pharyngeal diverticulum after endoscopic stapler repair. PMID:24454395

  13. Acute Reversible Duodenitis Following Non-Therapeutic Upper Gastrointestinal Endoscopy. Is Duodenal Diverticulum a Predisposing Factor?

    PubMed Central

    Unal, Emre; Ayan, Elif Nurbegum; Yazgan, Sibel

    2016-01-01

    Summary Background Diagnostic upper gastrointestinal (UGI) endoscopy has been regarded as a safe procedure. Case report We report of a 67-year-old woman who developed epigastric pain and dyspeptic complaints following an uneventful upper gastrointestinal endoscopy. The diagnosis of an acute reversible duodenitis was made on the basis of imaging studies. A duodenal diverticulum was also found on CT images, which raised the suspicion that duodenal diverticulum could be a predisposing factor for duodenitis. Conclusions Despite significant inflammation the patient demonstrated rapid clinical improvement with conservative treatment. Presence of a duodenal diverticulum may predispose to acute duodenitis following diagnostic UGI endoscopy. PMID:27994697

  14. Type 4 appendiceal diverticulum within a de Garengeot hernia

    PubMed Central

    Coveney, E

    2016-01-01

    A de Garengeot hernia is defined as an incarcerated femoral hernia containing the vermiform appendix. We describe the case of a patient with a type 4 appendiceal diverticulum within a de Garengeot hernia and delineate valuable learning points. A 76-year-old woman presented with a 2-week history of a non-reducible painless femoral mass. Outpatient ultrasonography demonstrated a 36mm × 20mm smooth walled, multiloculated, partially cystic lesion anterior to the right inguinal ligament in keeping with an incarcerated femoral hernia. Intraoperatively, the appendix was found to be incarcerated in the sac of the femoral hernia and appendicectomy was performed. Histopathology demonstrated no evidence of inflammation in the appendix. However, an incidental appendiceal diverticulum was identified. It is widely recognised that a de Garengeot hernia may present with concomitant appendicitis, secondary to raised intraluminal pressure in the incarcerated appendix. Appendiceal diverticulosis is also believed to develop in response to raised pressure in the appendix and may therefore develop secondary to incarceration in a de Garengeot hernia. To our knowledge, only one such case has been described in the literature. A de Garengeot hernia is a rare entity, which poses significant diagnostic challenges. A high index of clinical suspicion is necessary as these hernias are at particularly high risk of perforation and so prompt surgical management is paramount. PMID:27269437

  15. [Cranio-orbital zygomatic extradural approach for cavernous sinus or Meckel's cave tumors].

    PubMed

    Kinjo, T; Mukawa, J; Mekaru, S; Koga, H

    1996-06-01

    Direct surgery to cavernous sinus (CS) lesions has become one of the optimal treatments based on advancement in microsurgical anatomy and imaging modality, and the progress of microsurgical techniques. We have removed the CS or Meckel's cave tumors extradurally when they do not extend intradurally, using modified Al-Mefty's cranio-orbital zygomatic craniotomy. Three CS tumors; trigeminal neurofibroma, squamous cell carcinoma and chondrosarcoma, and a Meckel's cave meningioma were reported. Total removal was achieved in all but one (case 4). Postoperative complications were permanent ophthalmoplegia in one, transient ophthalmoplegia in one, subcutaneous CSF accumulation in two and trigeminal dysfunction in one. The extradural approach can be the first choice of methods for total removal of tumors when they are confined to the CS or Meckel's cave.

  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. Right aortic arch with aberrant left innominate artery arising from Kommerell's diverticulum*

    PubMed Central

    Faistauer, Ângela; Torres, Felipe Soares; Faccin, Carlo Sasso

    2016-01-01

    We report a case of an uncommon thoracic aorta anomaly-right aortic arch with aberrant left innominate artery arising from Kommerell's diverticulum-that went undiagnosed until adulthood. PMID:27777481

  18. Metastatic involvement of the Meckel's cave and trigeminal nerve. A case report.

    PubMed

    Mastronardi, L; Lunardi, P; Osman Farah, J; Puzzilli, F

    1997-03-01

    The case of a patient with a right atypical trigeminal neuralgia caused by a metastatic tumor involving the Meckel's cave is reported. His medical history was significant for colon-rectal adenocarcinoma. The preoperative diagnosis of Meckel's cave neoplasm was made by MR. The patient underwent surgery, consisting of total removal of tumor and peeling of the ganglion and of the branches of the nerve, obtaining a histological diagnosis and a resolution of pain. The clinical, radiological findings and the treatment of this rare entity are discussed.

  19. [Primary Meckel's cave lymphoma. A case and review of the literature].

    PubMed

    Artico, M; Salvati, M; Raco, A; Innocenzi, G; Delfini, R

    1992-01-01

    A rare case of Meckel's cavity lymphoma is presented. Only two other cases of identical localization have been presented in the literature. The symptoms consisted of sensorimotor impairment of the Vth nerve associated with slight exophthalmos. C.T. scan showed a hyperdense lesion in Meckel's cavity. After total surgical removal, histological analysis diagnosed a B-lymphocyte non-Hodgkin's lymphoma. The patient received both radiotherapy and chemotherapy and at one year follow up, the clinical course was good. The lesion had no clinical or radiological specificity. Its prognosis appears to be identical to that of other intracranial lymphomas.

  20. Image-Guided Endoscopic Endonasal Transmaxillary Transpterygoid Approach to Meckel's Cave.

    PubMed

    Wang, Xuejian; Zhang, Xiaobiao; Hu, Fan; Yu, Yong; Gu, Ye; Xie, Tao; Ge, Junqi

    2016-01-01

    The aim of this report was to summarize our preliminary experience on the resection of tumors located in Meckel's cave via the endoscopic endonasal transmaxillary transpterygoid approach with image-guided system and to investigate the feasibility and efficacy of this approach. Two patients who had tumors in left Meckel's cave underwent surgical treatment using the image-guided endoscopic endonasal transmaxillary transpterygoid approach. This particular technique has advantages of no brain retraction, direct vision of tumor resection and protection of surrounding neurovascular structures. Neuronavigation increases the safety of the endoscopic approach.

  1. Intradural chordoma of the Meckel's cave: a challenging differential diagnosis.

    PubMed

    Barresi, Valeria; Caffo, Maria; Alafaci, Concetta; Granata, Francesca; Tuccari, Giovanni

    2012-10-01

    Chordomas are midline tumors that arise from embryonic remnants of the notochord and are considered to be malignant tumors because of their tendency to invade and destroy the involved bone. Cases of intradural chordomas without bone involvement have been rarely described with a predilection for prepontine location. The absence of bony invasion renders the complete excision of these tumors more feasible and is related to their better prognosis in comparison to conventional chordomas. Herein we report the first intradural chordoma arising in the Meckel's cave. The intradural location of the lesion, outside midline structures, in the absence of bone infiltration, made the differential diagnosis versus other meningeal lesions such as chordoid meningioma challenging. The intense and strong immunohistochemical expression of pan-cytokeratins, S100, cytokeratin-19 and of the notochordal marker brachyury allowed differential diagnosis toward other tumors showing chordoid morphology. The expression of brachyury, which had not been previously analyzed in intradural chordoma, definitely links the histogenesis of this neoplasia to the notochord, similar to that of conventional chordoma. We also show that, different from conventional chordoma, intradural chordoma does not express the metallo-proteinases (MMPs) -2 and -9, which may account for its indolent biological behavior.

  2. Meningeal melanocytoma of Meckel's cave associated with ipsilateral Ota's nevus.

    PubMed

    Botticelli, A R; Villani, M; Angiari, P; Peserico, L

    1983-06-15

    A case of meningeal melanocytoma of the left Meckel's cave associated with ipsilateral Ota's nevus in a 43-year-old woman, was studied by light and electron microscopy. The cells of the tumor were characterized by the presence of dendritic cytoplasmic processes, melanosomes and premelanosomes; hence, they were deemed as neoplastic melanocytes. Moreover, the tumor was lacking in histologic and ultrastructural features of pigmented meningioma, melanotic Schwannoma and primary meningeal melanoma. The prolonged clinical course was different from primary and metastatic malignant melanomas of the meninges. The best treatment appears to be radical excision, when possible; otherwise, the local or partial enucleation followed by radiation therapy has been found to be the best curative to date. On the whole, meningeal melanocytoma cannot be considered as entirely benign, given its morphologic patterns that resemble those of uveal melanoma, and its potential for recurrence. The association of this tumor with Ota's nevus is referred to as having a common origin from an arrested migration of melanoblasts at different stages.

  3. Perforated jejunal diverticulum: a rare case of acute abdomen

    PubMed Central

    Sehgal, Rishabh; Cheung, Cherry X.; Hills, Tristram; Waris, Aqueel; Healy, Donagh; Khan, Tahir

    2016-01-01

    Jejunal pseudo-diverticulosis is a rare acquired herniation of the mucosa and submucosa through weakened areas of the muscularis mucosa of the mesenteric aspect of the bowel. They are asymptomatic in the majority of cases; however, they can present with a wide spectrum of non-specific symptoms such as chronic abdominal discomfort, postprandial flatulence, diarrhoea, malabsorption and steattorhoea. In up to 15% of cases, more serious acute complications may arise such as the development of intestinal obstruction, haemorrhage or as in our case, localized peritonitis secondary to perforation. Perforation carries an overall mortality rate of up to 40% and exploratory laparotomy followed by copious lavage with segmental resection and primary anastomosis remains the mainstay of managing such sequalae of jejunal pseudo-diverticulosis. Our case report highlights the importance of maintaining a high clinical suspicion of a perforated jejunal diverticulum in an elderly patient presenting with an acute abdomen. PMID:27765806

  4. Acquired cervical spinal arachnoid diverticulum in a cat.

    PubMed

    Adams, R J; Garosi, L; Matiasek, K; Lowrie, M

    2015-04-01

    A one-year-old, female entire, domestic, shorthair cat presented with acute onset non-ambulatory tetraparesis. Magnetic resonance imaging was consistent with a C3-C4 acute non-compressive nucleus pulposus extrusion and the cat was treated conservatively. The cat was able to walk after 10 days and was normal 2 months after presentation. The cat was referred five and a half years later for investigation of an insidious onset 3-month history of ataxia and tetraparesis. Magnetic resonance imaging of the cervical spine was repeated, demonstrating a spinal arachnoid diverticulum at C3 causing marked focal compression of the spinal cord. This was treated surgically with hemilaminectomy and durectomy. The cat improved uneventfully and was discharged 12 days later.

  5. Current status of minimally invasive endoscopic management for Zenker diverticulum.

    PubMed

    Aiolfi, Alberto; Scolari, Federica; Saino, Greta; Bonavina, Luigi

    2015-02-16

    Surgical resection has been the mainstay of treatment of pharyngoesophageal (Zenker) diverticula over the past century. Developments in minimally invasive surgery and new endoscopic devices have led to a paradigm change. The concept of dividing the septum between the esophagus and the pouch rather than resecting the pouch itself has been revisited during the last three decades and new technologies have been investigated to make the transoral operation safe and effective. The internal pharyngoesophageal myotomy accomplished through the transoral stapling approach has been shown to effectively relieve outflow obstruction and restore physiological bolus transit in patients with medium size diverticula. Transoral techniques, either through a rigid device or by flexible endoscopy, are gaining popularity over the open surgical approach due the low morbidity, the fast recovery time and the fact that the procedure can be safely repeated. We provide an analysis of the the current status of minimally invasive endoscopic management of Zenker diverticulum.

  6. Current status of minimally invasive endoscopic management for Zenker diverticulum

    PubMed Central

    Aiolfi, Alberto; Scolari, Federica; Saino, Greta; Bonavina, Luigi

    2015-01-01

    Surgical resection has been the mainstay of treatment of pharyngoesophageal (Zenker) diverticula over the past century. Developments in minimally invasive surgery and new endoscopic devices have led to a paradigm change. The concept of dividing the septum between the esophagus and the pouch rather than resecting the pouch itself has been revisited during the last three decades and new technologies have been investigated to make the transoral operation safe and effective. The internal pharyngoesophageal myotomy accomplished through the transoral stapling approach has been shown to effectively relieve outflow obstruction and restore physiological bolus transit in patients with medium size diverticula. Transoral techniques, either through a rigid device or by flexible endoscopy, are gaining popularity over the open surgical approach due the low morbidity, the fast recovery time and the fact that the procedure can be safely repeated. We provide an analysis of the the current status of minimally invasive endoscopic management of Zenker diverticulum. PMID:25685264

  7. Spontaneous resolution of a Meckel's cave arachnoid cyst causing sixth cranial nerve palsy.

    PubMed

    Jacob, Maud; Gujar, Sachin; Trobe, Jonathan; Gandhi, Dheeraj

    2008-09-01

    A 32-year-old pregnant woman developed a progressive right sixth cranial nerve palsy as an isolated finding. Brain MRI disclosed a discrete lobulated lesion centered in the right Meckel's cave with intermediate signal on T1, high signal on T2, and diffusion characteristics similar to those of cerebrospinal fluid on apparent diffusion coefficient mapping. The initial radiologic diagnosis was schwannoma or meningioma. No intervention occurred. Shortly after cesarean delivery, the abduction deficit began to lessen spontaneously. One month later, the abduction deficit had further improved; 7 months later it had completely resolved. Repeat MRI after delivery failed to disclose the lesion, which was now interpreted as consistent with an arachnoid cyst arising within Meckel's cave. Twenty-one similar cases of Meckel's cave arachnoid cyst or meningocele have been reported, 7 found incidentally and 14 causing symptoms, 2 of which produced ipsilateral sixth cranial nerve palsies. All previously reported symptomatic patients were treated surgically. This is the first report of an arachnoid cyst arising from Meckel's cave in pregnancy and having spontaneous resolution.

  8. Pontine glioma extending to the ipsilateral cavernous sinus and Meckel's cave: MR appearance.

    PubMed

    Yuh, W T; Nguyen, H D; Mayr, N A; Follett, K A

    1992-01-01

    The authors describe an exophytic glioma of the pons that grew into the Meckel's cave and cavernous sinus in a 75-year-old man. Pontine gliomas should be included in the differential diagnosis of a hyperintense, complex cystic mass seen along the distribution of cranial nerve V.

  9. The endoscopic endonasal approach to the Meckel's cave tumors: surgical technique and indications.

    PubMed

    Jouanneau, Emmanuel; Simon, Emile; Jacquesson, Timothée; Sindou, Marc; Tringali, Stéphane; Messerer, Mahmoud; Berhouma, Moncef

    2014-12-01

    Many benign and malignant tumors as well as other inflammatory or vascular diseases may be located in the areas of Meckel's cave or the cavernous sinus. Except for typical features such as for meningiomas, imaging may not by itself be sufficient to choose the best therapeutic option. Thus, even though modern therapy (chemotherapy, radiotherapy, or radiosurgery) dramatically reduces the field of surgery in this challenging location, there is still some place for surgical biopsy or tumor removal in selected cases. Until recently, the microscopic subtemporal extradural approach with or without orbitozygomatic removal was classically used to approach Meckel's cave but with a non-negligible morbidity. Percutaneous biopsy using the Hartel technique has been developed for biopsy of such tumors but may fail in the case of firm tumors, and additionally it is not appropriate for anterior parasellar tumors. With the development of endoscopy, the endonasal route now represents an interesting alternative approach to Meckel's cave as well as the cavernous sinus. Through our experience, we describe the modus operandi and discuss what should be the appropriate indication of the use of the endonasal endoscopic approach for Meckel's cave disease in the armamentarium of the skull base surgeon.

  10. A giant colonic diverticulum presenting as a 'phantom mass': a case report

    PubMed Central

    2009-01-01

    Introduction Diverticulosis coli is the most common disease of the colon in Western countries. Giant colonic diverticulum, defined as a colonic diverticulum measuring 4 cm in size or larger, represents an unusual manifestation of this common clinical entity. Case presentation A 68-year-old Caucasian British woman with a history of intermittent lower abdominal mass, leg swelling and focal neurological symptoms underwent extensive non-diagnostic investigations over a significant period under a number of disciplines. The reason for a diagnosis being elusive in part related to the fact that the mass was never found on clinical and ultrasound examination. As a result, the patient's validity was questioned. Ultimately, this 'phantom-mass' was diagnosed as a giant colonic diverticulum causing intermittent compression of the iliac vein and obturator nerve. Conclusion Intermittent compression of the iliac vein and the obturator nerve by a colonic diverticulum has not previously been reported. A giant colonic diverticulum presenting as an intermittent mass is very rare. This case also illustrates two factors. First, the patient is often right. Second, the optimal mode of investigation for any proven or described abdominal mass with referred symptoms is cross-sectional imaging, typically a computed tomography scan, irrespective whether the mass or symptoms are constant or intermittent. PMID:19173728

  11. Calyceal Diverticulum of the Kidney – Diagnostic Imaging Dilemma in Pediatric Patients – Case Report

    PubMed Central

    Bombiński, Przemysław; Warchoł, Stanisław; Brzewski, Michał; Biejat, Agnieszka; Dudek-Warchoł, Teresa; Krzemień, Grażyna; Szmigielska, Agnieszka; Toth, Krzysztof

    2015-01-01

    Summary Background Calyceal diverticula are rarely diagnosed in children. They can mimic other renal cystic lesions and correct diagnosis can be difficult to establish. Connection between fluid collection and collecting system confirmed by imaging studies is the key diagnostic finding. Case Report In this report we present a case of pediatric patient with calyceal diverticulum, with initial ultrasonographic diagnosis of simple renal cyst. Final diagnosis was established after extended diagnostics following infection of a fluid collection. Conclusions 1. Differential diagnosis of well-circumscribed solitary renal fluid collections in children should include particularly: simple cyst, calyceal diverticulum and the first demonstration of ADPKD. 2. Diagnosis of calyceal diverticulum should be confirmed by contrast studies. 3. Standard management of calyceal diverticula in children includes ultrasonographic follow-up and conservative treatment and rarely requires surgical intervention. PMID:25610511

  12. Syndrome de Meckel Gruber: à propos d’un cas rare

    PubMed Central

    Itchimouh, Sanaa; Khabtou, Karima; Mahdaoui, Sakher; Boufettal, Houssine; Samouh, Naima

    2016-01-01

    Le syndrome de Meckel Gruber est un syndrome poly malformatif rare, de transmission autosomique récessive, défini par d'encéphalocèle occipital, polydactylie et dysplasie kystique rénale. L'échographie constitue, à l'heure actuelle, le meilleur moyen de dépistage anténatal de cette poly malformation létale et sa confirmation se fait par l'étude du caryotype. Nous rapportons un cas de syndrome de Meckel découvert par échographie. La grossesse a été interrompue à 25 semaines d'aménorrhée. PMID:28154732

  13. Interconnecting the posterior and middle cranial fossae for tumors that traverse Meckel's cave.

    PubMed

    Cheung, S W; Jackler, R K; Pitts, L H; Gutin, P H

    1995-03-01

    Meckel's cave is an avenue for tumor to spread between the posterior and middle cranial fossae. The most common neoplasms that traverse this channel are trigeminal schwannomas and meningiomas. The classic approach to address disease in both cranial fossae involves separate craniotomies. Recent innovations in skull base surgery have made it possible to perform a single opening with simultaneous exposure of the posterior and middle fossae, without undue brain retraction. Tumors with a large middle fossa component and a smaller posterior fossa portion are exposed via subtemporal craniotomy with petrosectomy and tentorium division. However, tumors with a large posterior fossa component and a smaller middle fossa portion in the setting of serviceable hearing are addressed with retrosigmoid craniotomy and petrosectomy. For bilobed tumors with substantial components in both fossae, subtemporal craniotomy combined with varying degrees of transtemporal petrosectomy and tentorium division is employed. The evolution of techniques to address tumors that traverse Meckel's cave is reviewed and a treatment algorithm is proposed.

  14. Epidermoid tumors of Meckel's cave: case report and review of the literature.

    PubMed

    Miyazawa, N; Yamazaki, H; Wakao, T; Nukui, H

    1989-12-01

    Lesions of Meckel's cave are extremely uncommon and difficult to diagnose. The symptoms and signs are variable, and the lesions may not appear on routine roentgenographic or computed tomographic examination. A patient with a small epidermoid tumor of Meckel's cave that was diagnosed by magnetic resonance imaging is herein reported. The epidermoid appeared as a low-intensity mass on the T1-weighted image and as a high-intensity mass on the T2-weighted image. Coronal sections defined the anatomic relationship to the trigeminal nerve. Preoperative recordings of the trigeminal sensory evoked response may be predictive of postoperative recovery of neurological deficits. Furthermore, intraoperative recording was extremely useful in avoiding inadvertent neurological injury. Review of the literature confirms the rarity of this lesion and the usefulness of magnetic resonance imaging in diagnosing it, although based on a limited number of cases.

  15. Pressure monitoring inside Meckel's cave during percutaneous microcompression of gasserian ganglion.

    PubMed

    Zanusso, M; Curri, D; Landi, A; Colombo, F; Volpin, L; Cervellini, P

    1991-01-01

    During percutaneous microcompression of the gasserian ganglion for the relief of trigeminal neuralgia, a computerized technique for monitoring the pressure inside Meckel's cave was employed in 22 patients. A dedicated transducer connected to a computer records the balloon inflation pressure. Its variations are discernible within tenths of a bar and are plotted in relation to time. The intraoperative pressure inside Meckel's cave is from 0.9 to 2.4 bars. When pressure was low, there was recurrence of pain. The highest values of pressure (1.9-2.4 bars) were observed in most of the patients suffering from untoward side effects. The clinical results seem to be influenced by the level of the intraoperative intracavitary pressure.

  16. Trigeminal Neuralgia Due to a Small Meckel's Cave Epidermoid Tumor: Surgery Using an Extradural Corridor.

    PubMed

    Furtado, Sunil V; Hegde, Alangar S

    2009-09-01

    Tumors at the petrous apex are associated with a variety of symptoms, which most often involve the trigeminal nerve. The authors present a rare case of a small epidermoid tumor in Meckel's cave that caused medically refractory trigeminal neuralgia. The surgical challenge associated with approaches to such lesions is discussed. The skull base tumor was excised completely through a small temporal craniotomy. The practicality of neuronavigation in reaching the petrous apex using a small extradural window is presented.

  17. A RARE CASE OF SQUAMOUS CELL CARCINOMA IN URINARY BLADDER DIVERTICULUM SUCCESSFULLY TREATED BY BLADDER-SPARING SURGERY.

    PubMed

    Štimac, Goran; Knežević, Matej; Grubišić, Igor; Soipi, Soip; Tomas, Davor; Krušlin, Božo

    2015-09-01

    The aim is to report a rare case of squamous cell carcinoma arising in a urinary bladder diverticulum and present recent literature overview of treatment options. A 56-year-old man presented with intermittent hematuria. Ultrasound examination indicated primary carcinoma in the urinary bladder diverticulum. Diagnosis was confirmed with cystoscopy and computed tomography. Transvesical diverticulectomy with regional lymphadenectomy was undertaken. Two years after initial treatment, the patient was well without evidence of tumor relapse. This report implicates that although aggressive surgical approach is recommended in the majority of bladder diverticulum tumors, simple diverticulectomy may be indicated in selected, confined cases.

  18. Prenatal Diagnosis of Cardiac Diverticulum with Pericardial Effusion in the First Trimester of Pregnancy with Resolution after Early Pericardiocentesis

    PubMed Central

    Garcia Rodriguez, Raquel; Rodriguez Guedes, Azahara; Garcia Delgado, Raquel; Roldan Gutierrez, Lourdes; Medina Castellano, Margarita; Garcia Hernandez, Jose Angel

    2015-01-01

    Cardiac diverticulum is a rare anomaly, which may present in association with pericardial effusion. Only few cases diagnosed during fetal life have been published and only in 12 cases pericardiocentesis was made with good postnatal outcomes in 83% of the cases. In the first trimester of pregnancy only 6 cases were reported. We described the largest series of cases published. We describe a case of cardiac diverticulum complicated with pericardial effusion during the first trimester of pregnancy and resolved by intrauterine pericardiocentesis at 17 weeks of pregnancy. We made a systematic review of the literature with the cases reported of cardiac diverticulum, management, and outcomes. PMID:26558121

  19. [Acute retention of urine secondary to a congenital diverticulum of the bladder].

    PubMed

    Azahouani, A; Hida, M; Lasseri, A; Lahfaoui, M; Zaari, N; Belahcen, M; Elazzouzi, D; Benhaddou, H

    2016-10-01

    Bladder diverticula in children are mostly congenital, frequently associated with vesicoureteral reflux. Their positive diagnosis is based primarily on retrograde urethrocystography. One complication of this condition is acute urinary retention. We report the case of a 4-month-old infant who presented acute retention of urine secondary to bilateral congenital bladder diverticulum and review the literature on this subject.

  20. 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.

  1. Nuchal cystic hygroma in five fetuses from 1819 to 1826 in the Meckel-anatomical collections at the University of Halle, Germany.

    PubMed

    Göbbel, Luminita; Schultka, Rüdiger; Klunker, Rudyard; Stock, Karsten; Helm, Jürgen; Olsson, Lennart; Opitz, John M; Gerlach, Antje; Tönnies, Holger

    2007-01-15

    The Anatomical collection of the Department of Anatomy and Cell Biology, Medical School of the University of Halle, Germany, comprises more than 8,000 specimens. Around 600 of them show congenital anomalies. The collection of abnormal human and animal fetuses began as the private collection of Johann Friedrich Meckel the Elder (1724-1774), his son Philipp Friedrich Theodor Meckel (1755-1803) and his grandson Johann Friedrich Meckel the Younger (1781-1833). Meckel the Younger founded the systematic science of developmental pathology. Radiographical techniques, computer tomographic (CT) methods, magnetic resonance imaging (MRI), and comparative genomic hybridization (CGH) were used to diagnose abnormal human fetuses in the Meckel-anatomical collections. Cystic hygroma colli was found in five of the human fetuses originally described by JF Meckel the Younger in 1826 and one of his students in 1819 [Hencke, 1819]. CGH analyses were used to test whether the observed cystic hygroma colli could be caused by chromosomal aneuploidies. CGH-ratio profiles of all chromosomes were apparently normal. PCR-based sex determination tests on ancient DNA were used to determine the fetal gonosomal constitution. It is likely that the Meckel specimens are among the oldest fetuses in which Ullrich-Turner "phenotype" has been diagnosed.

  2. Histiocytic tumor of Meckel's cave. An intracranial equivalent of juvenile xanthogranuloma of the skin.

    PubMed

    Paulus, W; Kirchner, T; Michaela, M; Kühl, J; Warmuth-Metz, M; Sörensen, N; Müller-Hermelink, H K; Roggendorf, W

    1992-01-01

    We present the case of a 7-year-old boy who had a solitary mass within Meckel's cave that recurred 6 weeks after the initial resection. The histological, immunohistochemical, electron-microscopical, and molecular genetical features established the lesion's histiocytic nature. Our findings showed that it was closely related to juvenile xanthogranuloma, a benign lesion that usually occurs in the skin but has not yet been histologically confirmed in the brain. The present tumor is different from other intracranial histiocytic and xanthogranulomatous lesions.

  3. Infected tracheal diverticulum: a rare association with alpha-1 antitrypsin deficiency.

    PubMed

    Amaral, Cecília Beatriz Alves; Silva, Sónia; Feijó, Salvato

    2014-01-01

    Tracheal diverticulum, defined as a benign outpouching of the tracheal wall, is rarely diagnosed in clinical practice. It can be congenital or acquired in origin, and most cases are asymptomatic, typically being diagnosed postmortem. We report a case of a 69-year-old woman who was hospitalized after presenting with fever, fatigue, pleuritic chest pain, and a right neck mass complicated by dysphagia. Her medical history was significant: pulmonary emphysema (alpha-1 antitrypsin deficiency); bronchiectasis; and thyroidectomy. On physical examination, she presented diminished breath sounds and muffled heart sounds, with a systolic murmur. Laboratory tests revealed elevated inflammatory markers, a CT scan showed an air-filled, multilocular mass in the right tracheal wall, and magnetic resonance imaging confirmed the CT findings. Fiberoptic bronchoscopy failed to reveal any abnormalities. Nevertheless, the patient was diagnosed with tracheal diverticulum. The treatment approach was conservative, consisting mainly of antibiotics. After showing clinical improvement, the patient was discharged.

  4. Single-port video-assisted thoracoscopic surgery for a huge epiphrenic esophageal diverticulum

    PubMed Central

    2017-01-01

    Epiphrenic esophageal diverticulum is uncommon disease, which is defined as the herniation of the mucosa and submucosa through the muscle layers of the esophageal wall in distal third of the esophagus. Traditionally, thoracotomy has been the preferred surgical approach. Recently, many surgeons have attempted minimally invasive surgeries for epiphrenic esophageal diverticula. They reported that minimally invasive surgery (MIS) for epiphrenic esophageal diverticula was a safe and feasible approach which had many advantages. There are various options of surgical approaches for MIS of epiphrenic diverticula. However, the best surgical approach remains uncertain. We report the case of a huge epiphrenic esophageal diverticulum, which was successfully treated by single-port video-assisted thoracoscopic surgery (VATS). PMID:28203430

  5. Inferior wall diverticulum of left ventricle coexisting with mental retardation and atrial septal defect.

    PubMed

    Liu, Henry; Zhou, Ting; Liu, Jiao; Tong, Yiru; Shanewise, Jack S

    2012-10-01

    We report a case of congenital inferior wall left ventricular diverticulum (LVD), atrial septal defect and mental retardation detected by intraoperative transesophageal echocardiography. The combination of three features strongly suggests that genetic factors play important role in the pathogenesis of the disorder. Most LVDs are asymptomatic. Echocardiographers and cardiac anesthesiologists should be aware of this anomaly, and include it in the differential diagnosis of abnormally shaped ventricular wall and seek other congenital abnormalities if LVD is detected.

  6. 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

  7. [Giant negative T waves in idiopathic apical diverticulum of the left ventricle in adults].

    PubMed

    Barboteu, M; Desnos, M; Hagège, A; Dufour, M; Chauvaud, S; Junes, G; Baleynaud, S; Bruneval, P; Guérot, C

    1995-10-01

    Left ventricular diverticula, congenital or acquired, with normal coronary arteries are rare. Apical diverticula are exceptionally rare in the adult. The authors present the clinical, paraclinical, anatomopathological pre- and postoperative data in a case of apical diverticulum of the left ventricle presenting with giant negative T waves. The differential diagnosis of these electrocardiographic changes is discussed, in particular apical cardiomyopathy, especially as the two conditions may be associated.

  8. Congenital anterior urethral diverticulum presenting as a scrotal mass in a two-year-old child

    PubMed Central

    Gürağaç, Ali; Irkilata, Hasan Cem; Yunusov, Nahit; Demirer, Zafer

    2016-01-01

    Here, we describe a case of congenital anterior urethral diverticulum (CAUD) in a two-year-old boy, who presented with right inguinoscrotal swelling that mimicked a spermatic cord cyst or hydrocele. Accurate diagnosis was made intraoperatively by retrograde urethrography. Open diverticulectomy and primary urethroplasty were performed for its management. The clinical presentation, diagnosis, and the management of this rare condition is discussed. PMID:28096926

  9. Microanatomy of the mandibular symphysis in lizards: patterns in fiber orientation and Meckel's cartilage and their significance in cranial evolution.

    PubMed

    Holliday, Casey M; Gardner, Nicholas M; Paesani, Sylvia M; Douthitt, Mallory; Ratliff, Jack L

    2010-08-01

    Although the mandibular symphysis is a functionally and evolutionarily important feature of the vertebrate skull, little is known about the soft-tissue morphology of the joint in squamate reptiles. Lizards evolved a diversity of skull shapes and feeding behaviors, thus it is expected that the morphology of the symphysis will correspond with functional patterns. Here, we present new histological data illustrating the morphology of the joint in a number of taxa including iguanians, geckos, scincomorphs, lacertoids, and anguimorphs. The symphyses of all taxa exhibit dorsal and ventral fibrous portions of the joints that possess an array of parallel and woven collagen fibers. The middle and ventral portions of the joints are complemented by contributions of Meckel's cartilage. Kinetic taxa have more loosely built symphyses with large domains of parallel-oriented fibers whereas hard biting and akinetic taxa have symphyses primarily composed of dense, woven fibers. Whereas most taxa maintain unfused Meckel's cartilages, iguanians, and geckos independently evolved fused Meckel's cartilages; however, the joint's morphologies suggest different developmental mechanisms. Fused Meckel's cartilages may be associated with the apomorphic lingual behaviors exhibited by iguanians (tongue translation) and geckos (drinking). These morphological data shed new light on the functional, developmental, and evolutionary patterns displayed by the heads of lizards.

  10. Changes in Swallowing-related Quality of Life After Endoscopic Treatment For Zenker's Diverticulum Using SWAL-QOL Questionnaire.

    PubMed

    Colpaert, C; Vanderveken, O M; Wouters, K; Van de Heyning, P; Van Laer, C

    2017-03-09

    Dysphagia affects the most cardinal of human functions: the ability to eat and drink. The aim of this prospective study was to evaluate swallowing dysfunction in patients diagnosed with Zenker's diverticulum using the Swallowing Quality of Life (SWAL-QOL) questionnaire preoperatively. In addition, SWAL-QOL was used to assess changes in the outcome of swallowing function after endoscopic treatment of Zenker's diverticulum compared to baseline. Pre- and postoperative SWAL-QOL data were analyzed in 25 patients who underwent endoscopic treatment of Zenker's diverticulum between January 2011 and December 2013. Patients were treated by different endoscopic techniques, depending on the size of the diverticulum: CO2 laser technique or stapler technique, or the combination of both techniques used in larger diverticula. Their mean age was 69 years, and 28% of patients were female. The mean interval between endoscopic surgery and completion of the postoperative SWAL-QOL was 85 days. The median (min-max) preoperative total SWAL-QOL score was 621 (226-925) out of 1100, indicating the perception of oropharyngeal dysphagia and diminished quality of life. Following endoscopic treatment of Zenker's diverticulum, significant improvement was demonstrated in the postoperative total SWAL-QOL score of 865 (406-1072) out of 1100 (p < 0.001). On the majority of subscales of SWAL-QOL there was significant improvement between pre- and postoperative scores. To the authors' knowledge, this is the first report in the literature on the changes in pre- and postoperative SWAL-QOL scores for patients with Zenker's diverticulum before and after treatment. The results of this study indicate that endoscopic treatment of Zenker's diverticulum leads to significant symptom relief as documented by significant changes in the majority of the SWAL-QOL domains.

  11. Phytobezoar in a jejunal diverticulum as a cause of small bowel obstruction: a case report

    PubMed Central

    2011-01-01

    Introduction Phytobezoars are concretions of poorly digested fruit and vegetable fibers found in the alimentary tract. Previous gastric resection, gastrojejunostomy, or pyloroplasty predispose people to bezoar formation. Small-bowel bezoars normally come from the stomach, and primary small-bowel bezoars are very rare. They are seen only in patients with underlying small-bowel diseases such as diverticula, strictures, or tumors. Primary small-bowel bezoars almost always present as intestinal obstructions, although it is a very rare cause, being responsible for less than 3% of all small-bowel obstructions in one series. Jejunal diverticula are rare, with an incidence of less than 0.5%. They are usually asymptomatic pseudodiverticula of pulsion type, and complications are reported in 10% to 30% of patients. A phytobezoar in a jejunal diverticulum is an extremely rare presentation. Case presentation A 78-year-old Pakistani man presented to our clinic with small-bowel obstruction. Upon exploration, we found a primary small-bowel bezoar originating in a jejunal diverticulum and causing jejunal obstruction. Resection and anastomosis of the jejunal segment harboring the diverticulum was performed, and our patient had an uneventful recovery. Conclusion Primary small-bowel bezoars are very rare but must be kept in mind as a possible cause of small-bowel obstruction. PMID:21951579

  12. [A case of carcinoma arising in a diverticulum of the transverse colon].

    PubMed

    Nomi, Masako; Umemoto, Satoshi; Kikutake, Takashi; Hosaka, Seiji; Mase, Takahiro; Kawamoto, Shunji; Yoshida, Takahisa

    2014-11-01

    A 64 year-old woman presented with advanced, transverse colon cancer arising in the diverticulum. Tumor invasion extended beyond the serosa to the anal side of the colon. Anemia and fatigue progressed after 6 months of iron administration. The hemoglobin value was 5.3 g/dL and carcinoembryonic antigen (CEA) level was elevated to 44.2 ng/mL. A palpable and tender fist-sized mass was found in the right upper abdomen. Computed tomography (CT) revealed a low-density mass in the transverse colon invading beyond the serosa to the anal side of the colon. Right hemi-colectomy with lymph node dissection was performed. The resected specimen contained multiple diverticula including the one from which the tumor arose. Histological examination revealed a well-differentiated, tubular adenocarcinoma (UICC TNM T4bN0M0) arising in a transverse colon diverticulum. There has been no recurrence for 2 years. Colon cancer arising in a diverticulum may expand to the extra-serosa and easily invade to the adjacent organ. In such cases, malignancy should be considered.

  13. Perforated caecal diverticulum as a content of inguinal hernia - report of a rare case.

    PubMed

    Tantia, Om; Bandyopadhyay, Samik; Jain, Mayank; Sasmal, Prakash Kumar; Khanna, Shashi; Sen, Bimalendu

    2009-10-01

    A tablet induced perforation of a caecal diverticulum into a hernial sac is a rare happening. The report discusses the presentation and outcome of a patient with such an unusual disease. A 55-year-old man presented with features of irreducible right sided indirect inguinal hernia. A hard swelling near upper pole of right testis was noted. Scrotal ultrasound revealed a normal testis. At operation caecum and proximal ascending colon were found in the hernial sac with the caecum adherent to the testis. As caecal malignancy could not be ruled out and enbloc Rt Haemicolectomy with Rt orchidectomy was performed. The patient had an uneventful recovery. Pathological examination of the specimen revealed a perforated caecal diverticulum with presence of multiple tablets in its lumen invaginating the upper pole of right testis without any evidence of malignancy. Tablet induced perforation of a caecal diverticulum into a hernial sac is a rare clinical entity. If malignancy cannot be negated at operation, a right haemicolectomy is a safe and feasible option.

  14. Meckel's cartilage in Xenopus laevis during metamorphosis: a light and electron microscope study.

    PubMed Central

    Thomson, D A

    1986-01-01

    Meckel's cartilage, in Xenopus laevis prior to metamorphosis, is a tissue exhibiting very large lacunae, separated by thin rims of matrix, presenting a net-like appearance, similar to that of cartilage in invertebrates. The cells on the periphery of the tissue are rather more flattened, and more closely packed. On the lateral aspects of the cartilage distinct columns of apparently dividing cells are evident. During metamorphic climax, the amount of matrix separating the lacunae increases, with an associated decrease in lacunar size, and some of the deeper cells develop cilia, which are not seen either before or after climax. By the end of metamorphic climax there is a considerable increase in the amount of matrix present in the tissue, while many cells at all depths in the cartilage show the presence of lysosome-like structures, possibly associated with the changing shape of the cartilage. Intramembranous ossification is proceeding around Meckel's cartilage, but there is no evidence of endochondral ossification up to the end of metamorphosis. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 Fig. 6 Fig. 7 Fig. 8 Fig. 9 Fig. 10 Fig. 11 Fig. 12 Fig. 13 Fig. 14 Fig. 15 Fig. 16 Fig. 17 Fig. 18 Fig. 19 PMID:3693112

  15. 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.

  16. MR imaging of primary tumors of trigeminal nerve and Meckel's cave.

    PubMed

    Yuh, W T; Wright, D C; Barloon, T J; Schultz, D H; Sato, Y; Cervantes, C A

    1988-09-01

    MR imaging features of 11 primary tumors of the trigeminal nerve and Meckel's cave were analyzed. The tumors consisted of two trigeminal schwannomas, five meningiomas, one lipoma, and three epidermoid tumors. The trigeminal schwannomas had homogeneously decreased signal intensity on T1-weighted images and increased signal intensity on T2-weighted images. Three of the five meningiomas had signal intensity similar to that of surrounding brain on both T1- and T2-weighted images. One meningioma had decreased signal intensity on T1-weighted images and increased signal intensity on T2-weighted images. The other had relatively low signal intensity on both T1- and T2-weighted images owing to heavy calcification demonstrated on CT. The lipoma had homogeneous signal intensity that was isointense with orbital and subcutaneous fat on both T1- and T2-weighted images. The epidermoid tumors had decreased signal intensity on T1-weighted images and markedly increased signal intensity on T2-weighted images. In addition, the epidermoids had an insinuating growth pattern and minimal mass effect. The extent of involvement in the trigeminal nerve distribution was well demonstrated in each case. Because of its multiplanar capability, exquisite anatomic detail, and characteristic tissue signal intensity, we conclude that MR is helpful in the differential diagnosis of primary tumors of the trigeminal nerve and Meckel's cave and in the evaluation of tumor involvement for preoperative planning.

  17. [The scholarly program of Johann Friedrich Meckel the Younger (1781-1833) and it importance for the development of life sciences].

    PubMed

    Göbbel, Luminita; Schultka, Rüdiger

    2002-11-01

    Although Johann Friedrich Meckel the Younger was one of the most famous anatomists, his research work has been severely neglected in the recent historiographical literature on the German morphology. The goal of our study is to approach a general characterization of his research program. Our analysis reveals that Meckel introduced the Cuvierian empiricism in Germany, but he also considered the "Abstraktion" as a main component of the scientific knowledge. According to his epistemology on nascent organisms and transmutable species, both, variability and relatedness of the organic forms are important to the same degree. Meckel explicitly adopted the Jean-Baptiste de Lamarcks (1744-1829) evolutionary theories. Even though in Meckel's discourse about diversity the Cuvierian notion of "functional adaptation" was preserved, the main goal of his research program was to demonstrate empirically the "Allgemeinheit des Bildungstypus". For this purpose, he considered the entire variety of the animal kingdom: normal as well as abnormal organisms, adult specimens and above all embryos. Moreover, he believed that the abnormal development is due to the same laws as the normal development. He applied parallelisms to a new domain, the study of malformation. With Meckel's researches on teratology, a new era in the analyses of the anomalies was opened. They became an integral part of the natural diversity and thus a highly exploited subject of biomedical researches. Meckel's empirical and epistemological writings on the embryology, comparative embryology, teratology, pathology, systematics and comparative anatomy have largely contributed to the foundation of the biological research.

  18. Gastrointestinal bleeding

    MedlinePlus

    ... disease or ulcerative colitis Esophageal varices Esophagitis Gastric (stomach) ulcer Intussusception (bowel telescoped on itself) Mallory-Weiss tear Meckel's diverticulum Radiation injury to the bowel

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

    PubMed Central

    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

  20. Massive upper gastrointestinal bleeding originating from a fourth-stage duodenal diverticulum: a case report and review of the literature

    PubMed Central

    Rioux, Louis; Groseilliers, Sylvain Des; Fortin, Michel; Mutch, David O.

    1996-01-01

    Duodenal diverticulum is well-known pathologic entity. Most such diverticula are asymptomatic and located on the second stage of the duodenum. The diagnosis is most often established by endoscopy or upper gastrointestinal radiography. Hemorrhage has been described but is an infrequent complication. We report on a patient who presented with massive upper gastrointestinal bleeding, originating from a fourth-stage duodenal diverticulum. The diagnosis was made with a combination of arteriography and scanning with technetium 99-labelled red cells. Diverticulectomy was performed with a successful outcome. This report underlines the diagnostic limits of fiberoptic endoscopy for hemorrhagic lesions located past the third stage of the duodenum. PMID:8956821

  1. Perforated Meckel’s diverticulum in an adult due to faecolith: A case report and review of literature

    PubMed Central

    Modi, Sunny; Kanapathy Pillai, Shant; DeClercq, Stefaan

    2015-01-01

    Meckel’s diverticulum (MD) is a persistent remnant of the vitelointestinal duct and is present in 2% of population [1]. It is the most common congenital malformation of the gastrointestinal tract. It can present clinically as haemorrhage, diverticulitis, intussusception, chronic ulceration, intestinal obstruction and perforation. Complicated presentation, especially bleeding, tends to be more common in the paediatric group, whereas intestinal obstruction is more common in adults [2]. Patients with a perforation of Meckel’s diverticulum by an enterolith are rare and may present with right iliac fossa pain, which mimics acute appendicitis. PMID:26363105

  2. A quantitative analysis of cellular and matrix changes in Meckel's cartilage in Xenopus laevis.

    PubMed Central

    Thomson, D A

    1987-01-01

    The changes in cell population and matrix volume fraction in Meckel's cartilage during metamorphic climax have been assessed using standard stereological techniques. The period of climax has been divided into three phases, a preliminary 'Lag' phase (NF Stages 57-60), a 'Division' phase (NF Stages 60-62) when the cell population rises rapidly and a 'Synthesis' phase (NF Stages 62-66) when the matrix content of the tissue also increases dramatically. These changes along with the membranous ossification occurring at the same time are postulated to be associated with the change in the feeding habit of the larvae from filtration prior to metamorphic climax to active predation in the young frog. PMID:3654355

  3. [The microsurgery of the tumor involving Meckel's cave and nearby area].

    PubMed

    Li, L

    1992-09-01

    A retrospective review of 12 cases of tumor involving Mackel's cave and nearby area seen at the Tongji hospital in a 20-year period. All of the cases may be divided to three clearly defined clinical groups: (1) Patients with typical trigeminal neuralgia. The tumor usually involve the ganglion. After removal the mass the prognosis were excellent. (2) Schwannoma or neurofibrosarcoma embedded in the semilunar ganglion with a history of atypical face pain without neurological deficit. After operation the pain relief was not as good as the group 1. (3) Patients with the history of face dysethesias and pain, tumors usually involving the middle fossa of cranial base with multiple cranial nerve deficit. These patients had variable mass lesions and after removed tumor the prognosis was not as good as in group 1 and group 2. The anatomy of Meckel's cave and surgical technique in treating these tumors were discussed also.

  4. [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.

  5. 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

  6. 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.

  7. Extraperitoneal Rupture of a Bladder Diverticulum and the Role of Multidetector Computed Tomography Cystography.

    PubMed

    Kodama, Koichi; Takase, Yasukazu; Saito, Katsuhiko

    2016-11-01

    Nontraumatic rupture of the bladder is less widely recognized than traumatic rupture, with a challenging early diagnosis due to high variability in clinical presentations. We report a case of extraperitoneal rupture of a bladder diverticulum in a patient with diabetes mellitus who presented with paralytic ileus. Despite conservative management, the patient developed sepsis requiring surgical treatment. Urinary tract infection and bladder outlet obstruction were considered to be potential mechanisms of the rupture. Multidetector computed tomography cystography should be used as the first-line modality when evaluating for a suspected bladder rupture, even in patients with nontraumatic bladder rupture.

  8. [Pain of the trigeminal nerve as the first symptom of a metastasis from an oesohaguscarcinoma in Meckel's cave - case report].

    PubMed

    Mewes, H; Schroth, I; Deinsberger, W; Böker, D K

    2001-01-01

    Pain in all three divisions of the trigeminal nerve is in over 65% of all cases the first symptom of a tumour in Meckel's cave. Tumors in this location make up only 0,5% of all intracranial tumours. The most common are trigeminal schwannomas and meningeomas. A metastases as a cause of trigeminal pain is a rare description in the literature so far. We describe a patient with trigeminal pain and a tumour in Meckels's cave shown in the MRI, who were operated in our department. The histological examination of the tumour resulted in the diagnosis of metastatic carcinoma of an until then unknown oesophaguscarcinoma. - Although metastatic tumours are rare, we could show with our case, that they have to be included in differential dignostic considerations.

  9. Earliest description by Johann Friedrich Meckel, Senior (1750) of what is known today as Lutembacher syndrome (1916).

    PubMed

    Wiedemann, H R

    1994-10-15

    The letter that the famous anatomist Johann Friedrich Meckel, Sr. sent from Berlin on May 5, 1750 to the great Albrecht von Haller (at that time resident in Göttingen) contains the earliest reference to an unusual observation made by the former. Even today this observation is considered in the clinical literature to be the first description of a coarctation of the aorta. In fact, it is probably the first description of what is known today as Lutembacher syndrome.

  10. [Dermoid Cyst in Meckel's Cave Presenting with Oculomotor Nerve Palsy and Trigeminal Neuralgia:A Case Report].

    PubMed

    Tanabe, Nozomu; Tomita, Takahiro; Nagai, Shoichi; Kuwayama, Naoya; Noguchi, Kyo; Kuroda, Satoshi

    2016-10-01

    The authors report a rare case of an intracranial dermoid cyst found in Meckel's cave. A 63-year-old woman developed left oculomotor nerve palsy and was referred to their hospital. Magnetic resonance imaging revealed a cystic lesion in the left Meckel's cave and prepontine cistern, but her symptoms gradually improved during conservative observation. However, three years later she complained of left facial pain in the territory of the second branch of the trigeminal nerve. The left oculomotor nerve palsy exacerbated again. Although her trigeminal neuralgia improved after carbamazepine administration, her oculomotor nerve palsy did not recover. Therefore, she underwent direct surgery through the anterior transpetrosal approach, and the fat-containing tumor cyst was completely resected. The tumor was strongly compressing the left trigeminal nerve and its ganglion in Meckel's cave. After surgery, her facial pain completely resolved and her oculomotor nerve palsy gradually improved. Histological examination revealed that the cyst wall was composed of a single layer of squamous epithelium and contained hair and keratin. A pathological diagnosis of a dermoid cyst was made.

  11. 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

  12. Cardiac anomalies in Cantrell’s pentalogy: From ventricular diverticulum to complete thoracic ectopia cordis

    PubMed Central

    Kaouthar, Hakim; Jihen, Ayari; Faten, Jebri; Hela, Msaad; Fatma, Ouarda; Lilia, Chaker; Rafik, Boussaada

    2014-01-01

    Summary Cantrell’s pentalogy is a very rare syndrome associating varying degrees of midline wall defects and congenital cardiac anomalies. It is characterized by a combination of five anomalies that are: a midline supra umbilical abdominal wall defect, a sternal defect, an anterior diaphragmatic defect, a diaphragmatic pericardial defect and a congenital intra cardiac defect. Ectopia cordis, defined as a developmental defect in which the heart is abnormally located partially or totally outside the thorax, is in some cases a part of this syndrome. We report two cases of Cantrell’s pentalogy in which cardiac ectopia was complete in one case and limited to left ventricular diverticulum in the other case. Both cases had a common intracardiac defect which is a double outlet right ventricle. The first case underwent surgical repair of the intracardiac lesions with resection of the diverticulum associated to repair of the midline defects with good outcome. The second case that presented with complete extra thoracic ectopia cordis died because of sepsis. We review through this article the main characteristics of Cantrell’s pentalogy, we highlight the diversity of anatomic lesions and study the prognosis of this syndrome. PMID:25541632

  13. Cardiac anomalies in Cantrell's pentalogy: From ventricular diverticulum to complete thoracic ectopia cordis.

    PubMed

    Kaouthar, Hakim; Jihen, Ayari; Faten, Jebri; Hela, Msaad; Fatma, Ouarda; Lilia, Chaker; Rafik, Boussaada

    2013-01-01

    Cantrell's pentalogy is a very rare syndrome associating varying degrees of midline wall defects and congenital cardiac anomalies. It is characterized by a combination of five anomalies that are: a midline supra umbilical abdominal wall defect, a sternal defect, an anterior diaphragmatic defect, a diaphragmatic pericardial defect and a congenital intra cardiac defect. Ectopia cordis, defined as a developmental defect in which the heart is abnormally located partially or totally outside the thorax, is in some cases a part of this syndrome. We report two cases of Cantrell's pentalogy in which cardiac ectopia was complete in one case and limited to left ventricular diverticulum in the other case. Both cases had a common intracardiac defect which is a double outlet right ventricle. The first case underwent surgical repair of the intracardiac lesions with resection of the diverticulum associated to repair of the midline defects with good outcome. The second case that presented with complete extra thoracic ectopia cordis died because of sepsis. We review through this article the main characteristics of Cantrell's pentalogy, we highlight the diversity of anatomic lesions and study the prognosis of this syndrome.

  14. Functional analysis of CTRP3/cartducin in Meckel's cartilage and developing condylar cartilage in the fetal mouse mandible.

    PubMed

    Yokohama-Tamaki, Tamaki; Maeda, Takashi; Tanaka, Tetsuya S; Shibata, Shunichi

    2011-05-01

    CTRP3/cartducin, a novel C1q family protein, is expressed in proliferating chondrocytes in the growth plate and has an important role in regulating the growth of both chondrogenic precursors and chondrocytes in vitro. We examined the expression of CTRP3/cartducin mRNA in Meckel's cartilage and in condylar cartilage of the fetal mouse mandible. Based on in situ hybridization studies, CTRP3/cartducin mRNA was not expressed in the anlagen of Meckel's cartilage at embryonic day (E)11.5, but it was strongly expressed in Meckel's cartilage at E14.0, and then reduced in the hypertrophic chondrocytes at E16.0. CTRP3/cartducin mRNA was not expressed in the condylar anlagen at E14.0, but was expressed in the upper part of newly formed condylar cartilage at E15.0. At E16.0, CTRP3/cartducin mRNA was expressed from the polymorphic cell zone to the upper part of the hypertrophic cell zone, but was reduced in the lower part of the hypertrophic cell zone. CTRP3/cartducin-antisense oligodeoxynucleotide (AS-ODN) treatment of Meckel's cartilage and condylar anlagen from E14.0 using an organ culture system indicated that, after 4-day culture, CTRP3/cartducin abrogation induced curvature deformation of Meckel's cartilage with loss of the perichondrium and new cartilage formation. Aggrecan, type I collagen, and tenascin-C were simultaneously immunostained in this newly formed cartilage, indicating possible transformation from the perichondrium into cartilage. Further, addition of recombinant mouse CTRP3/cartducin protein to the organ culture medium with AS-ODN tended to reverse the deformation. These results suggest a novel function for CTRP3/cartducin in maintaining the perichondrium. Moreover, AS-ODN induced a deformation of the shape, loss of the perichondrium/fibrous cell zone, and disorder of the distinct architecture of zones in the mandibular condylar cartilage. Additionally, AS-ODN-treated condylar cartilage showed reduced levels of mRNA expression of aggrecan, collagen types I

  15. Meckel's diverticulectomy

    MedlinePlus

    ... Sabiston Textbook of Surgery: The Biological Basis of Modern Surgical Practice . 20th ed. Philadelphia, PA: Elsevier; 2017: ... for EHRs For Developers U.S. National Library of Medicine 8600 Rockville Pike, Bethesda, MD 20894 U.S. Department ...

  16. 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

  17. The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome

    PubMed Central

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

  18. Epidermoid cyst in Meckel's cave with unusual computed tomography and magnetic resonance imaging findings. Case report.

    PubMed

    Arai, Atsushi; Sasayama, Takashi; Koyama, Junji; Fujita, Atsushi; Hosoda, Kohkichi; Kohmura, Eiji

    2010-01-01

    A 27-year-old woman presented with headache and occasional numbness over her right face. Computed tomography revealed a hypodense mass in the middle cranial fossa and another adjacent hyperdense mass in the posterior fossa with erosion of the right petrous apex. Magnetic resonance imaging revealed the lesion in the middle cranial fossa as iso- to hypointense on T(1)-weighted and hyperintense on T(2)-weighted imaging, with peripheral enhancement after gadolinium administration, and the adjacent lesion in the posterior fossa as hyperintense on T(1)-weighted and hypointense on T(2)-weighted imaging. During surgery, these lesions mimicking two adjacent distinct tumors were revealed to connect through Meckel's cave. The hypodense lesion in the middle cranial fossa consisted of pearly-like solid contents, and the hyperdense lesion in the posterior cranial fossa consisted of viscid dark-green materials. The tumors were gross totally resected with endoscopic assistance. Histological examination confirmed that the tumor was an epidermoid cyst. The present case cyst indicates that although the diffusion-weighted imaging sequence is useful for detection of intracranial epidermoid cysts, epidermoid cysts including viscous materials with unusual radiological findings could complicate the preoperative diagnosis.

  19. Diverticulum of the Vermiform Appendix—A Review of 28 Cases

    PubMed Central

    Yates, Lyle N.

    1972-01-01

    Twenty-eight previously unreported cases of appendiceal diverticula were found in a 15-year retrospective review of records at five hospitals. The incidence is probably higher than is realized. Data drawn from the review indicated that the age of the patient and a history of previous attacks might be slight clues to distinguishing between diverticulum and acute appendicitis. Inflamed or not, rarely are these diverticula recognizable at the time of operation, but if the appendix is bulbous or club-shaped or there is increased thickening of the mesentery, the surgeon's suspicion should be aroused. In four of fourteen acute cases in the series, perforation had occurred—within 15 hours of the onset of symptoms in two cases. In four others there was abscess formation within the mesentery of the appendix. PMID:4621490

  20. 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

  1. 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

  2. A large renal pelvic diverticulum, presenting incomplete excretion during tc-99m MAG-3 scintigraphy and tracer accumulation on tc-99m DMSA scintigraphy; a case report.

    PubMed

    Turgut, Bulent; Erselcan, Taner; Ozdemir, Semra; Hasbek, Zekiye; Tosun, H Bayram; Topaktas, Seher

    2004-12-01

    This case report illustrates the dynamic and static renal scintigraphic images of a patient with an unusual large diverticulum of the renal pelvis. The initial diagnosis by intravenous pyelography (IVP) and ultrasonographic (US) examination was a renal pelvic diverticulum of the left kidney, and the patient was referred to the nuclear medicine department for exploration of the effect of the pelvic diverticulum on renal functions. We performed dynamic renal scintigraphy with technetium-99m (Tc-99m) labeled mercaptoacetyl triglycine (MAG-3) and static renal scintigraphy with Tc-99m labeled dimercaptosuccinic acid (DMSA). In dynamic renal scintigraphy, bilaterally normal concentration function was observed. While right kidney excretion function was normal, an incomplete excretion pattern was seen on the left side. Complete urinary flow obstruction occurred approximately at the 10th minute of the acquisition, which did not seem to respond to the i.v. furosemide application. However, when only the renal cortex was included in the region of interest, the obstructive pattern disappeared. In static renal scintigraphy, a large renal pelvic diverticulum localized antero-medially was clearly visualized in the left-anterior oblique projection, most probably due to accumulation of radiopharmaceutical inside it. This case showed that a renal pelvic diverticulum should be thought of when an incomplete excretion pattern is seen on dynamic renal scintigraphy. Using only a cortical region of interest may also help to distinguish other types of obstructive pattern from diverticulum. Additionally, Tc-99m DMSA scintigraphy may show diverticulum localization with antero-oblique projections in addition to routine projections.

  3. Adult Onset Dysphagia: Right Sided Aortic Arch, Ductus Diverticulum, and Retroesophageal Ligamentum Arteriosum Comprising an Obstructing Vascular Ring

    PubMed Central

    Raheja, Hitesh; Kamholz, Stephan; Shetty, Vijay

    2017-01-01

    A 49-year-old African American male patient with no past medical history was admitted because of 3 months of difficulty swallowing solid and liquid foods. He had constant retrosternal discomfort and appeared malnourished. The chest radiograph revealed a right sided aortic arch with tracheal deviation to the left. A swallow study confirmed a fixed esophageal narrowing at the level of T6. Contrast enhanced Computed Tomography (CT) angiogram of the chest and neck revealed a mirror image right aortic arch with a left sided cardiac apex and a prominent ductus diverticulum (measuring 1.7 × 1.8 cm). This structure extended posterior to and indented the mid esophagus. A left posterolateral thoracotomy was performed and the ductus diverticulum was resected. A retroesophageal ligamentum arteriosum was found during surgery and divided. This rare combination of congenital anatomical aberrations led to severe dysphagia in our patient. Successful surgical correction in the form of resection of the ductus diverticulum and division of the retroesophageal ligamentum arteriosum led to complete resolution of our patient's symptoms.

  4. Amyloidoma Involving the Orbit, Meckel's Cave and Infratemporal Fossa: 3T MRI Findings.

    PubMed

    Menetti, F; Bartolomei, I; Ambrosini-Spaltro, A; Salvi, F; Agati, R; Leonardi, M

    2009-03-23

    Amyloidoma is a rare lesion characterized by tissue deposition of an abnormal fibrillary protein (amyloid). It is the focal and localized counterpart of systemic amyloidosis, where the deposition of amyloid diffusely involves several organs. The few literature reports of intracranial amyloidomas include lesions involving the pituitary gland, orbit, cerebral hemispheres, temporal bone, cerebellopontine angle and jugular foramen. We describe the case of a 27-year-old woman presenting with painless slowly progressive proptosis of the right eye. The patient underwent a contrast-enhanced CT study of the head, followed by 3T MRI which disclosed a homogeneous mass in the right Meckel's cave and cavernous sinus, extending through an enlarged foramen ovale to the infratemporal fossa. The right optic nerve and ocular muscles were enlarged and infiltrated along with the retrobulbar fat by contrast-enhancing tissue. Thin contrast-enhanced MRI scans through the area of interest showed the mass to extend posterior to the gasserian ganglion, involving the cerebellopontine angle cistern, where the intracisternal parts of the III, V, and VI nerves bilaterally appeared enlarged and showed perineural enhancement. The lesion closely mimicked a malignant tumor with perineural tumor infiltration, so we performed fine needle biopsy of the portion of the lesion near the right foramen ovale under fluoroscopic guidance. Histopathology revealed that the lesion was an amyloidoma. Further clinical and blood examinations, serum chemistry, followed by biopsy of the periumbilical fat showed no signs of systemic amyloidosis or an underlying inflammatory or neoplastic disorder. No further treatment was instituted, follow-up MRI six months later showed no enlargement of the mass.

  5. [Involvement of tissue interaction between cranial neural crest cells, their pathways lateral to the midbrain hindbrain border and the buccopharyngeal membrane in Meckel's cartilage formation in avian embryos].

    PubMed

    Imai, Hajime

    2012-03-01

    Cranial neural crest cells migrate to the craniofacial primordia and differentiate into skeletal tissues of the jaw such as Meckel's cartilage. It has not been clearly demonstrated how neural crest cells are committed to differentiate into these tissues. In this study, the conditions that are required for the formation of Meckel's cartilage were investigated. In situ hybridization in chick embryos indicated that Fgf8 and Shh involved in the pattern formation of limb cartilages were expressed in the neural tube of the midbrain-hindbrain border, the buccopharyngeal membrane and the oro-proximal site of the 1st branchial arch (oro-proximal BA1). Cell-tracing with DiI confirmed that the neural crest cells derived from both the posterior midbrain and rhombomere 1 migrated to the buccopharyngeal membrane, which subsequently forms oro-proximal BA1, by passing through the mesenchyme lateral to the midbrain-hindbrain boundary. Based on the above results, we carried out two types of ectopic transplantation experiments by chick-quail chimera The graft of oro-proximal BA1, the complex of epithelium and mesenchyme, formed a Meckel's cartilage-like structure in a self-differentiation manner, whereas neither epithelium only nor mesenchyme formed any elongated cartilage. The ectopic transplant of the buccopharyngeal membrane into the mesenchyme lateral to the neural tube of the mid-hindbrain border in which neural crest cells were migrating formed a Meckel's cartilage-like structure. These results suggest that the cranial neural crest cells derived from the mid-hindbrain region are committed to the cell fate during migration, and receive further signaling to differentiate into Meckel's cartilage in their destination.

  6. 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

  7. Gallstone ileus associated with impaction at Meckel’s diverticulum: Case report and literature review

    PubMed Central

    Lamba, Harveen K; Shi, Yiwen; Prabhu, Ajita

    2016-01-01

    Gallstone ileus due to erosion of one or more gallstones into the gastrointestinal tract is an uncommon cause of small bowel obstruction. The site of impaction is usually distal ileum, and less commonly the jejunum, colon, duodenum, or stomach. We report a rare case of gallstone ileus with impaction at the proximal small bowel and at a Meckel’s diverticulum (MD) in a 64-year-old woman managed with laparoscopic converted to open small bowel resections. Patient was discharged home in stable condition and remained asymptomatic at 6-mo follow up. We review the current literature on surgical approaches to MD and gallstone ileus. Diverticulectomy or segmental resection is preferred for complicated MD. For gallstone ileus, simple enterolithotomy or segmental resection are the most the most favored especially in older co-morbid patients due to lower mortality rates and the rarity of recurrent gallstone ileus. In addition, laparoscopy has been increasingly reported as a safe approach to manage gallstone ileus. PMID:27933137

  8. An unusual combination of congenital anomalies in an adult patient: patent ductus arteriosus, Kommerell's diverticulum with aberrant right subclavian artery, and heterotaxy syndrome.

    PubMed

    Celik, Murat; Celik, Turgay; Iyisoy, Atila; Guler, Adem

    2011-01-01

    The heterotaxy syndrome is a rare and sporadic disorder. This syndrome presents with situs ambiguus, splenic malformations such as asplenia or polysplenia, and congenital heart disease. Congenital heart diseases associated with this syndrome include a broad variety of manifestations. Patent ductus arteriosus is one of them and percutaneous transcatheter closure can be challenging in the setting of this syndrome. Kommerell's diverticulum is a saccular aneurysmal dilation at the origin of an aberrant subclavian artery, and can be related with other congenital anomalies. However, there is no previous report of Kommerell's diverticulum being found together with patent ductus arteriosus and heterotaxy syndrome.

  9. 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

  10. A rare complication of colonic diverticulosis: giant diverticulum. Case report and overview of pathophysiology, diagnosis and therapeutic options.

    PubMed

    Vanderstappen, J H H; Hoofwijk, A G M; Sikkink, C J J M

    2014-01-01

    A rare complication of diverticulosis of the colon is giant colonic diverticulum, an entity first described by Bonvin in 1946. The experience of any surgeon with this problem is at the most still small and reported management in the literature has been varied. We present the case of a 84-year-old woman presenting with a painless abdominal mass and constipation. A 30 x 10 cm gas-filled cyst was discovered on abdominal X-ray and CT examination. Furthermore, we provide an overview of pathophysiology, diagnosis and therapeutic options.

  11. Female Urethral Diverticulum: Presentation, Diagnosis, and Predictors of Outcomes After Surgery

    PubMed Central

    El-Nashar, Sherif A.; Singh, Ruchira; Bacon, Melissa M.; Kim-Fine, Shunaha; Occhino, John A.; Gebhart, John B.; Klingele, Christopher J.

    2017-01-01

    Introduction and Hypothesis To report on clinical presentation, diagnosis, and outcomes after treatment of female urethral diverticulum (UD). Methods Using a record linkage system, women with a new diagnosis of UD at Mayo Clinic from January 1, 1980, through December 31, 2011, were identified. The presenting symptoms, clinical characteristics, diagnosis, and management of women presenting with UD were recorded. Outcomes after surgery were assessed using survival analysis. All statistical analyses were 2-sided and P values less than 0.05 were considered significant. Statistical analysis was done using SAS version 9.2 and JMP version 9.0 (SAS Institute Inc.). Results A total of 164 cases were identified. Median age at diagnosis was 46 years (range, 21–83). The most common presenting symptom was recurrent urinary tract infection (98, 59.8%), followed by urinary incontinence (81, 49.4%), dysuria (62, 37.8%), dyspareunia (37, 22.6%), and hematuria (15, 9.1%). Examination revealed vaginal mass in 55 (33.5%) of the women. A significant trend was noted toward an increase in use of both magnetic resonance imaging and computed tomography (P < 0.001) along with a progressive decrease in use of urethrogram (P < 0.001) for diagnosis of UD over the years. Among 114 women who underwent surgical treatment for UD, 14(12.3%) women presented with recurrent UD and the 5-year recurrence rate after surgery for UD was 23.4% (95% confidence interval, 13.9–37.0) and a reoperation rate of 17.0% (95% confidence interval, 8.8–30.2) at 5 years. Conclusions Female UD is a rare and unique condition. Clinical presentation is usually nonspecific, and magnetic resonance imaging is commonly used for confirming the diagnosis. Recurrence is not uncommon, and repeat surgical intervention might be needed. PMID:27636213

  12. Laparoscopic diverticulectomy with the aid of intraoperative gastrointestinal endoscopy to treat epiphrenic diverticulum

    PubMed Central

    Yu, Lei; Wu, Ji-xiang; Chen, Xiao-hong; Zhang, Yun-Feng; Ke, Ji

    2016-01-01

    OBJECTIVE: Most researchers believe that the presence of large epiphrenic diverticulum (ED) with severe symptoms should lead to the consideration of surgical options. The choice of minimally invasive techniques and whether Heller myotomy with antireflux fundoplication should be employed after diverticulectomy became points of debate. The aim of this study was to describe how to perform laparoscopic transhiatal diverticulectomy (LTD) and oesophagomyotomy with the aid of intraoperative gastrointestinal (GI) endoscopy and how to investigate whether the oesophagomyotomy should be performed routinely after LTD. PATIENTS AND METHODS: From 2008 to 2013, 11 patients with ED underwent LTD with the aid of intraoperative GI endoscopy at our department. Before surgery, 4 patients successfully underwent oesophageal manometry: Oesophageal dysfunction and an increase of the lower oesophageal sphincter pressure (LESP) were found in 2 patients. RESULTS: There were 2 cases of conversion to an open transthoracic procedure. Six patients underwent LTD, Heller myotomy and Dor fundoplication; and 3 patients underwent only LTD. The dysphagia and regurgitation 11 patients experienced before surgery improved significantly. Motor function studies showed that there was no oesophageal peristalsis in 5 patients during follow-up, while 6 patients showed seemingly normal oesophageal motility. The LESP of 6 patients undergoing LTD, myotomy and Dor fundoplication was 16.7 ± 10.2 mmHg, while the LESPs of 3 patients undergoing only LTD were 26 mmHg, 18 mmHg and 21 mmHg, respectively. In 4 cases experiencing LTD, myotomy and Dor fundoplication, the gastro-oesophageal reflux occurred during the sleep stage. CONCLUSIONS: LTD constitutes a safe and valid approach for ED patients with severe symptoms. As not all patients with large ED have oesophageal disorders, according to manometric and endoscopic results, surgeons can categorise and decide whether or not myotomy and antireflux surgery after LTD will

  13. Operative treatment of tetralogy of Fallot with concomitant correction of anomalous origin of the left pulmonary artery from Kommerell's diverticulum

    PubMed Central

    Juscinski, Jacek; Haponiuk, Ireneusz; Chojnicki, Maciej; Steffens, Mariusz; Szofer-Sendrowska, Aneta; Kwasniak, Ewelina; Żelechowski, Pawel

    2014-01-01

    Anomalies in development of the pulmonary valve, pulmonary trunk and peripheral pulmonary arteries are typical accompanying pathologies in patients with tetralogy of Fallot (ToF). Demanding for diagnostics and borderline for treatment is a condition colloquially called “discontinuous pulmonary arteries”, while the main branches are supplied with systemic blood from the ascending aorta, aortic arch or descending thoracic aorta. We present a case of a one-year-old girl with ToF and anomalous origin of the left pulmonary artery (LPA) from Kommerell's diverticulum who underwent two-stage surgical therapy with the support of interventional cardiology. We conclude that early diagnosis of discontinuous pulmonary artery is crucial for choosing the optimal operative strategy. In our opinion, simultaneous anatomic intracardiac correction with direct pulmonary reconstruction seems reasonable and effective, particularly when the result is achieved after joint efforts of cardiac surgery and interventional cardiology. PMID:26336445

  14. Successful side-viewing endoscopic hemoclipping for Dieulafoy-like lesion at the brim of a periampullary diverticulum

    PubMed Central

    2010-01-01

    Background Duodenal Dieulafoy's lesions are rare and only several cases were reported so far. Their characteristic appearance and location make it difficult to be diagnosed in the clinical practice. Massive bleeding often results from these lesions and can impede the accurate early treatment. Case presentation 67 years old male patient suffered a fatal bleeding from Dieulafoy-like lesion located at the mouth of the periampullary diverticulum. Inintial endoscopic therapy and radiologic embolization failed to stop the bleeding, while direct observation and hemoclipping by the side viewing endoscopy successfully established correct diagnosis and permanent cure of the lesion. Conclusion Aggressive endoscopic examinations combined with the accurate endoscopic threatment should be adopted when Dieulafoy-like lesion is suspected as a possible cause of the proximal small bowel hemorrahge. Verification of the diagnosis and definitive treatment often needed repeated examination by side-viewing endoscope as well as stabilization of the patient. PMID:20178576

  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. First systematic CGH-based analyses of ancient DNA samples of malformed fetuses preserved in the Meckel Anatomical Collection in Halle/Saale (Germany).

    PubMed

    Tönnies, H; Gerlach, A; Klunker, R; Schultka, R; Göbbel, L

    2005-03-01

    We present the first data on our comparative genomic hybridization (CGH)-based strategy for the analysis of ancient DNA (aDNA) samples extracted from fetuses preserved in the Meckel Anatomical Collection in Halle, Germany. The collection contains numerous differently fixed ancient samples of fetal malformations collected from the middle of the 18th to the early 19th century. The main objective of this study is to establish a "standard" aDNA extraction and amplification protocol as a prerequisite for successful CGH analyses to detect or exclude chromosomal imbalances possibly causative for the malformations described for the fetuses.

  17. Primary high-grade serous carcinoma arising in the urethra or urethral diverticulum: a report of 2 cases of an extremely rare phenomenon.

    PubMed

    Flynn, Ciaran; Oxley, Jon; McCullagh, Paul; McCluggage, W Glenn

    2013-01-01

    Serous carcinomas most commonly arise within the uterine corpus or ovary/fallopian tube, but there are 2 prior case reports of primary vaginal serous carcinoma. We report 2 examples of high-grade serous carcinoma arising within the urethra or a urethral diverticulum (1 case each). Both neoplasms exhibited the classic morphologic features of high-grade serous carcinoma, and a combination of clinical, radiologic, and pathologic examination excluded other possible sites of primary neoplasm.

  18. 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.

  19. Long-term survival of diffuse large B cell lymphoma of the trigeminal region extending to the Meckel's cave treated by CHASER therapy: case report.

    PubMed

    Tanaka, Toshihide; Kato, Naoki; Itoh, Kuniaki; Hasegawa, Yuzuru

    2014-01-01

    A 52-year-old man with a history of malignant lymphoma of the cecum presented with lancinating facial pain in the left. Magnetic resonance imaging (MRI) revealed a tumor in the Meckel's cave extending along the trigeminal nerve. The tumor was partially removed via left retrosigmoid lateral suboccipital craniotomy. Histological examination showed findings consistent with diffuse large B cell lymphoma, which was later confirmed to be metastatic lesion from the cecal lesion. Postoperative chemotherapy with cyclophosphamide, high dose, cytarabine, steroid (dexamethasone), etoposide, and rituximab (CHASER) followed by whole brain irradiation (30 Gy) resulted in complete remission. Although facial pain persisted, the patient's general condition remained favorable and he did not experience recurrence over the 51-month follow-up period. Histological confirmation and awareness of malignant lymphoma are very important to determine the therapeutic strategy and to avoid misdiagnosis or delayed diagnosis. Long-term survival of patients with metastatic malignant lymphoma in the Meckel's cave extending along the trigeminal nerve was very rare. In addition, metastatic malignant lymphoma in the extra-axial and peripheral nervous tissue might be different from primary central nervous system lymphoma in the white matter, since the efficacy of chemotherapeutic agents against malignant lymphomas in the extra-axial regions is not attenuated by the blood brain barrier.

  20. Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome.

    PubMed

    Cui, Cheng; Chatterjee, Bishwanath; Francis, Deanne; Yu, Qing; SanAgustin, Jovenal T; Francis, Richard; Tansey, Terry; Henry, Charisse; Wang, Baolin; Lemley, Bethan; Pazour, Gregory J; Lo, Cecilia W

    2011-01-01

    Meckel-Gruber syndrome (MKS) is a recessive disorder resulting in multiple birth defects that are associated with mutations affecting ciliogenesis. We recovered a mouse mutant with a mutation in the Mks1 gene (Mks1(del64-323)) that caused a 260-amino-acid deletion spanning nine amino acids in the B9 domain, a protein motif with unknown function conserved in two other basal body proteins. We showed that, in wild-type cells, Mks1 was localized to the mother centriole from which the cilium was generated. However, in mutant Mks1(del64-323) cells, Mks1 was not localized to the centriole, even though it maintained a punctate distribution. Resembling MKS patients, Mks1 mutants had craniofacial defects, polydactyly, congenital heart defects, polycystic kidneys and randomized left-right patterning. These defects reflected disturbance of functions subserved by motile and non-motile cilia. In the kidney, glomerular and tubule cysts were observed along with short cilia, and cilia were reduced in number to a near-complete loss. Underlying the left-right patterning defects were fewer and shorter nodal cilia, and analysis with fluorescent beads showed no directional flow at the embryonic node. In the cochlea, the stereocilia were mal-patterned, with the kinocilia being abnormally positioned. Together, these defects suggested disruption of planar cell polarity, which is known to regulate node, kidney and cochlea development. In addition, we also showed that Shh signaling was disrupted. Thus, in the neural tube, the floor plate was not specified posteriorly even as expression of the Shh mediator Gli2 increased. By contrast, the Shh signaling domain was expanded in the anterior neural tube and anterior limb bud, consistent with reduced Gli3-repressor (Gli3R) function. The latter probably accounted for the preaxial digit duplication exhibited by the Mks1(del64-323) mutants. Overall, these findings indicate that centriole localization of Mks1 is required for ciliogenesis of motile and

  1. Hybrid repair of penetrating aortic ulcer associated with right aortic arch and aberrant left innominate artery arising from aneurysmal Kommerell's diverticulum with simultaneous repair of bilateral common iliac artery aneurysms.

    PubMed

    Guo, Yuanyuan; Yang, Bin; Cai, Hongbo; Jin, Hui

    2014-02-01

    We present the first case of a hybrid endovascular approach to a penetrating aortic ulcer on the left descending aorta with a right aortic arch and aberrant left innominate artery arising from an aneurysmal Kommerell's diverticulum. The patient also had bilateral common iliac artery aneurysms. The three-step procedure consisted of a carotid-carotid bypass, followed by endovascular exclusion of the ulcer and the aneurysmal Kommerell's diverticulum, and then completion by covering the iliac aneurysms. The patient had no complications at 18 months after surgery. In such rare configurations, endovascular repair is a safe therapeutic option.

  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. Arterial supply to the bleeding diverticulum in the ascending duodenum treated by transcatheter arterial embolization- a duodenal artery branched from the inferior pancreaticoduodenal artery.

    PubMed

    Sanda, Hiroki H; Kawai, Nobuyuki N; Sato, Morio M; Tanaka, Fumihiro F; Nakata, Kouhei K; Minamiguchi, Hiroki H; Nakai, Motoki M; Sonomura, Tetsuo T

    2014-01-01

    We present a case of endoscopically unmanageable hemorrhagic diverticulum in the ascending duodenum. The ventral and dorsal walls of the ascending duodenum were supplied from the first jejunal artery (1JA) and inferior pancreaticoduodenal artery (IPDA), respectively. The hemorrhage mainly occurred from IPDA. The abruptly branching of IPDA from superior mesenteric artery enabled successful catheterization of the IPDA with an angled microcatheter. Hemostasis was obtained by embolization using n-butyl cyanoacrylate. Gastroendoscopy depicted a duodenal hemi-circumferential ulcer. No symptoms related to hemorrhage were found at the last follow-up at 12 months.

  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. PMID:26091475

  5. Long-term results using LigaSure™ 5 mm instrument for treatment of Zenker's diverticulum.

    PubMed

    Andersen, Michelle Fog; Trolle, Waldemar; Anthonsen, Kristian; Nielsen, Hans Ulrik; Homøe, Preben

    2017-04-01

    The purpose of the present study was to evaluate the long-term results and patient's satisfaction of a new approach using the LigaSure™ 5 mm instrument for treatment of Zenker's diverticulum (ZD) and to compare with other long-term results using traditional treatment modalities. Between December 2011 and August 2013, a total of 23 patients with ZD underwent endoscopic surgery using the LigaSure™ technique in our department. A retrospective evaluation of the surgery was based on medical records and additionally a long-term follow-up was performed using a standardized questionnaire that was send to all patients. The questions dealt with complaints according to a visual analog scale (VAS) and were sent a minimum of one year after the surgery (mean time 22 months, range 12-32 month). The overall response rate was 91%. The mean age of the patients was 69 years (range 37-89 years). The patients reported nine for overall satisfaction on the VAS (range 0-10: 10 being very content and 0 very uncontent, 25 and 75% quartiles: 7 and 10) regarding the final outcome of their surgery, although several of the patients had continuous symptoms within the first postoperative year. Eight patients (38%) reported no symptoms at all. Our results suggest that endoscopic management of ZD with the LigaSure™ 5 mm instrument is a minimally invasive, fast and safe method with solid long-term outcome with relief of symptoms and patient satisfaction. This new operative instrument was not found inferior to traditional endoscopic techniques and is now the standard treatment method for ZD in our departments.

  6. Adhesive arachnoiditis causing cauda equina syndrome in ankylosing spondylitis: CT and MRI demonstration of dural calcification and a dorsal dural diverticulum.

    PubMed

    Bilgen, I G; Yunten, N; Ustun, E E; Oksel, F; Gumusdis, G

    1999-07-01

    We present the radiological features of a 42-year-old man with long-standing inactive ankylosing spondylitis (AS), demonstrating that arachnoiditis is a cause of a cauda equina syndrome (CES) in this disease. CT showed a dorsal arachnoid diverticulum causing scalloped erosion of the laminae, and punctate and curvilinear dural calcification. MRI revealed adhesion and convergence of the cauda equina dorsally into the arachnoid pouch, causing the dural sac to appear empty canal. To the best of our knowledge, dural calcification on CT is a new finding in AS, which may be related to the CES. Our findings support the hypothesis that chronic adhesive arachnoiditis with subsequent loss of meningeal elasticity may be the main cause of CES in AS.

  7. The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity

    PubMed Central

    Leightner, Amanda C.; Hommerding, Cynthia J.; Peng, Ying; Salisbury, Jeffrey L.; Gainullin, Vladimir G.; Czarnecki, Peter G.; Sussman, Caroline R.; Harris, Peter C.

    2013-01-01

    Meckel syndrome (MKS) is a lethal disorder associated with renal cystic disease, encephalocele, ductal plate malformation and polydactyly. MKS is genetically heterogeneous and part of a growing list of syndromes called ciliopathies, disorders resulting from defective cilia. TMEM67 mutation (MKS3) is a major cause of MKS and the related ciliopathy Joubert syndrome, although the complete etiology of the disease is not well understood. To further investigate MKS3, we analyzed phenotypes in the Tmem67 null mouse (bpck) and in zebrafish tmem67 morphants. Phenotypes similar to those in human MKS and other ciliopathy models were observed, with additional eye, skeletal and inner ear abnormalities characterized in the bpck mouse. The observed disorganized stereociliary bundles in the bpck inner ear and the convergent extension defects in zebrafish morphants are similar to those found in planar cell polarity (PCP) mutants, a pathway suggested to be defective in ciliopathies. However, analysis of classical vertebrate PCP readouts in the bpck mouse and ciliary organization analysis in tmem67 morphants did not support a global loss of planar polarity. Canonical Wnt signaling was upregulated in cyst linings and isolated fibroblasts from the bpck mouse, but was unchanged in the retina and cochlea tissue, suggesting that increased Wnt signaling may only be linked to MKS3 phenotypes associated with elevated proliferation. Together, these data suggest that defective cilia loading, but not a global loss of ciliogenesis, basal body docking or PCP signaling leads to dysfunctional cilia in MKS3 tissues. PMID:23393159

  8. The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling

    PubMed Central

    Barrington, Chloe L.; Katsanis, Nicholas

    2017-01-01

    The importance of primary cilia in human health is underscored by the link between ciliary dysfunction and a group of primarily recessive genetic disorders with overlapping clinical features, now known as ciliopathies. Many of the proteins encoded by ciliopathy-associated genes are components of a handful of multi-protein complexes important for the transport of cargo to the basal body and/or into the cilium. A key question is whether different complexes cooperate in cilia formation, and whether they participate in cilium assembly in conjunction with intraflagellar transport (IFT) proteins. To examine how ciliopathy protein complexes might function together, we have analyzed double mutants of an allele of the Meckel syndrome (MKS) complex protein MKS1 and the BBSome protein BBS4. We find that Mks1; Bbs4 double mutant mouse embryos exhibit exacerbated defects in Hedgehog (Hh) dependent patterning compared to either single mutant, and die by E14.5. Cells from double mutant embryos exhibit a defect in the trafficking of ARL13B, a ciliary membrane protein, resulting in disrupted ciliary structure and signaling. We also examined the relationship between the MKS complex and IFT proteins by analyzing double mutant between Mks1 and a hypomorphic allele of the IFTB component Ift172. Despite each single mutant surviving until around birth, Mks1; Ift172avc1 double mutants die at mid-gestation, and exhibit a dramatic failure of cilia formation. We also find that Mks1 interacts genetically with an allele of Dync2h1, the IFT retrograde motor. Thus, we have demonstrated that the MKS transition zone complex cooperates with the BBSome to mediate trafficking of specific trans-membrane receptors to the cilium. Moreover, the genetic interaction of Mks1 with components of IFT machinery suggests that the transition zone complex facilitates IFT to promote cilium assembly and structure. PMID:28291807

  9. The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling.

    PubMed

    Goetz, Sarah C; Bangs, Fiona; Barrington, Chloe L; Katsanis, Nicholas; Anderson, Kathryn V

    2017-01-01

    The importance of primary cilia in human health is underscored by the link between ciliary dysfunction and a group of primarily recessive genetic disorders with overlapping clinical features, now known as ciliopathies. Many of the proteins encoded by ciliopathy-associated genes are components of a handful of multi-protein complexes important for the transport of cargo to the basal body and/or into the cilium. A key question is whether different complexes cooperate in cilia formation, and whether they participate in cilium assembly in conjunction with intraflagellar transport (IFT) proteins. To examine how ciliopathy protein complexes might function together, we have analyzed double mutants of an allele of the Meckel syndrome (MKS) complex protein MKS1 and the BBSome protein BBS4. We find that Mks1; Bbs4 double mutant mouse embryos exhibit exacerbated defects in Hedgehog (Hh) dependent patterning compared to either single mutant, and die by E14.5. Cells from double mutant embryos exhibit a defect in the trafficking of ARL13B, a ciliary membrane protein, resulting in disrupted ciliary structure and signaling. We also examined the relationship between the MKS complex and IFT proteins by analyzing double mutant between Mks1 and a hypomorphic allele of the IFTB component Ift172. Despite each single mutant surviving until around birth, Mks1; Ift172avc1 double mutants die at mid-gestation, and exhibit a dramatic failure of cilia formation. We also find that Mks1 interacts genetically with an allele of Dync2h1, the IFT retrograde motor. Thus, we have demonstrated that the MKS transition zone complex cooperates with the BBSome to mediate trafficking of specific trans-membrane receptors to the cilium. Moreover, the genetic interaction of Mks1 with components of IFT machinery suggests that the transition zone complex facilitates IFT to promote cilium assembly and structure.

  10. B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

    PubMed Central

    Hopp, Katharina; Heyer, Christina M.; Hommerding, Cynthia J.; Henke, Susan A.; Sundsbak, Jamie L.; Patel, Shail; Patel, Priyanka; Consugar, Mark B.; Czarnecki, Peter G.; Gliem, Troy J.; Torres, Vicente E.; Rossetti, Sandro; Harris, Peter C.

    2011-01-01

    Meckel syndrome (MKS) is an embryonic lethal, autosomal recessive disorder characterized by polycystic kidney disease, central nervous system defects, polydactyly and liver fibrosis. This disorder is thought to be associated with defects in primary cilia; therefore, it is classed as a ciliopathy. To date, six genes have been commonly associated with MKS (MKS1, TMEM67, TMEM216, CEP290, CC2D2A and RPGRIP1L). However, mutation screening of these genes revealed two mutated alleles in only just over half of our MKS cohort (46 families), suggesting an even greater level of genetic heterogeneity. To explore the full genetic complexity of MKS, we performed exon-enriched next-generation sequencing of 31 ciliopathy genes in 12 MKS pedigrees using RainDance microdroplet-PCR enrichment and IlluminaGAIIx next-generation sequencing. In family M456, we detected a splice-donor site change in a novel MKS gene, B9D1. The B9D1 protein is structurally similar to MKS1 and has been shown to be of importance for ciliogenesis in Caenorhabditis elegans. Reverse transcriptase–PCR analysis of fetal RNA revealed, hemizygously, a single smaller mRNA product with a frameshifting exclusion of B9D1 exon 4. ArrayCGH showed that the second mutation was a 1.713 Mb de novo deletion completely deleting the B9D1 allele. Immunofluorescence analysis highlighted a significantly lower level of ciliated patient cells compared to controls, confirming a role for B9D1 in ciliogenesis. The fetus inherited an additional likely pathogenic novel missense change to a second MKS gene, CEP290; p.R2210C, suggesting oligogenic inheritance in this disorder. PMID:21493627

  11. 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.

  12. 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

  13. Neonatal intestinal volvulus and preduodenal portal vein associated with situs ambiguus: report of a case.

    PubMed

    Watanabe, Toshihiko; Nakano, Miwako; Yamazawa, Kazuki; Maeyama, Katsuhiro; Endo, Masao

    2011-05-01

    Situs ambiguus is a rare lateralization anomaly that is frequently associated with other malformations, including preduodenal portal vein (PDPV), intestinal malrotation, and cardiovascular anomalies. This is a case report on a newborn that was clinically diagnosed with situs ambiguus and midgut volvulus. During surgery the patient was found to have intestinal malrotation, Meckel's diverticulum, and PDPV that was not a direct cause of duodenal obstruction. The patient was treated with Ladd's procedure and resection of Meckel's diverticulum. It is important to be familiar with the spectrum of situs anomalies to prevent trauma to the portal vein with serious complications during surgery.

  14. Genetics Home Reference: Meckel syndrome

    MedlinePlus

    ... MKS Related Information How are genetic conditions and genes named? Additional Information & Resources MedlinePlus (3 links) Health Topic: Brain Malformations Health Topic: Kidney Cysts Health Topic: Neural Tube Defects Genetic and Rare Diseases Information Center (1 link) ...

  15. 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.

  16. An unusual constellation of congenital malformations in a single patient including partial anomalous pulmonary venous return, persistent left superior vena cava, aberrant pulmonary fissure, anomalous aortic arch, tracheal diverticulum and annular pancreas.

    PubMed

    Lapa, T; Vedelago, J; Kim, H; Patrick, E

    2014-10-31

    We report a case of a male patient with a constellation of rare congenital anomalies consisting of: partial anomalous pulmonary venous return (PAPVR), persistent left superior vena cava, 'bovine arch' aortic branching, tracheal diverticulum, aberrant lung fissure anatomy and an annular pancreas. He had presented with a history of worsening dyspnoea. To the best of our knowledge, this is the first reported case of a single patient with such a vast constellation of anomalies. The radiological evaluations, epidemiology, embryology and clinical features of the anomalies are discussed. It is important for radiologists to be aware of each of these anomalies as distinct entities; detection of a single anomaly should alert to the possibility that further anatomic aberrancies may be present.

  17. Indirect inguinal hernia sac containing testis and spermatic cord in an adult patient with cryptorchidism.

    PubMed

    Arslan, Yusuf; Karaman, Kerem; Altintoprak, Fatih; Kahyaoglu, Zeynep; Zengin, Ismail; Uzunoglu, Mustafa Yener; Demir, Hakan

    2014-03-07

    Sliding hernias are those in which part of the sac wall is formed by a retroperitoneal organ and/or its mesentery protruding outside the abdominal wall cavity. The hernia sac may contain jejunum, ileum, vermiform appendix, Meckel's diverticulum, stomach, ovary, fallopian tube or urinary bladder. Our report features an adult case with cryptorchidism in which testis and spermatic cord constitute a component of the indirect inguinal hernia sac.

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

    PubMed

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

    2015-07-01

    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.

  19. 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.

  20. Indirect inguinal hernia sac containing testis and spermatic cord in an adult patient with cryptorchidism

    PubMed Central

    Arslan, Yusuf; Karaman, Kerem; Altintoprak, Fatih; Kahyaoglu, Zeynep; Zengin, Ismail; Uzunoglu, Mustafa Yener; Demir, Hakan

    2014-01-01

    Sliding hernias are those in which part of the sac wall is formed by a retroperitoneal organ and/or its mesentery protruding outside the abdominal wall cavity. The hernia sac may contain jejunum, ileum, vermiform appendix, Meckel's diverticulum, stomach, ovary, fallopian tube or urinary bladder. Our report features an adult case with cryptorchidism in which testis and spermatic cord constitute a component of the indirect inguinal hernia sac. PMID:24876399

  1. Gallstone obstructive ileus 3 years post-cholecystectomy to a patient with an old ileoileal anastomosis.

    PubMed

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

    2009-12-01

    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.

  2. Congenital Vitelline Band Causing Intestinal Obstruction in an Adult with a Double Inferior Vena Cava

    PubMed Central

    Pussepitiya, Kumari; Samarasinghe, Bandula; Wickramasinghe, Nuwan

    2016-01-01

    Introduction. Vitelline artery remnants are rare causes of intra-abdominal bands leading to bowel obstruction. These bands may be associated with Meckel's diverticulum. Double inferior vena cava (IVC) is a rare presentation and is usually identified incidentally. Case Presentation. A sixty-year-old male presented with progressive vomiting for five days and he was clinically diagnosed with intestinal obstruction. Plain X-ray abdomen showed evidence of small bowel obstruction. CT scan of the abdomen revealed dilated small bowel loops with a small outpouching in the distal ileum with a band like structure attached to it. In the CT, left sided patent IVC draining into the left renal vein was identified. Left external iliac vein was in continuity with the left IVC. Left internal iliac vein was draining into the right IVC. Exploratory laparotomy revealed a Meckel's diverticulum with a band identified as the vitelline remnant attached to its apex and inserting at the anterior abdominal wall near the umbilicus. Discussion. Meckel's diverticulum with vitelline bands, although rare, should be borne in mind in adult patients with intestinal obstruction. Identification of this anomaly can be difficult in imaging studies. Presence of double IVC should be mentioned in the imaging findings to prevent possible catastrophic complications during surgery. PMID:27843667

  3. Major Complications of Small Bowel Diverticula

    PubMed Central

    Donald, John W.

    1979-01-01

    Complications of diverticula of the duodenum, jejunum and ileum, exclusive of Meckel's diverticula are extremely rare but can produce major diagnostic and therapeutic problems. Major reported complications include hemorrhage, perforation, biliary and pancreatic obstruction, and inflammation with intestinal obstruction. The mortality of complicated duodenal diverticula is reported from 33 to 48%. Our experience with some of these complications is reported. This experience and a review of other reported cases have led to the following recommendations for surgical treatment. 1) Massively bleeding duodenal diverticulum. Precise localization of the bleeding point by endoscopy and/or arteriography is highly desirable. Excision or partial excision of the diverticulum with suture ligation of the bleeding point is necessary. 2) Perforated duodenal diverticulum. Excision or partial excision, secure closure and drainage are necessary. If peri-Vaterian, a probe should be passed through the ampulla of Vater via the common duct. Unless an entirely satisfactory closure is achieved, complete diversion of the enteric stream from the duodenum by vagotomy, antrectomy with closure of duodenal stump, and Billroth II anastomosis is recommended. 3) Choledochal obstruction due to duodenal diverticulum. Choledocho-duodenostomy. 4) Perforation, bleeding, or obstruction due to jejunal or ileal diverticulum. In rare cases, local excision of the diverticulum is feasible. Usually, resection of the involved segment with primary anastomosis is indicated. ImagesFig. 1.Fig. 2.Fig. 3.Fig. 4.Fig. 5.Fig. 6. PMID:111637

  4. Appendiceal diverticulum associated with chronic appendicitis

    PubMed Central

    Zubieta-O’Farrill, Gregorio; Guerra-Mora, José Raúl; Gudiño-Chávez, Andrés; Gonzalez-Alvarado, Carlos; Cornejo-López, Gilberto Bernabe; Villanueva-Sáenz, Eduardo

    2014-01-01

    INTRODUCTION Appendiceal diverticulosis is a rare entity, with a global incidence between 0.004% and 2.1% of all appendectomies. It has been related with an elevated risk of perforation in comparison to acute appendicitis, as well as an increased risk for synchronic appendicular cancer in 48% of the cases, and colonic cancer in 43%. The incidence of chronic appendicitis has been reported in 1.5% of all appendicitis cases. PRESENTATION OF CASE We present a 73-year-old female, with no relevant familial history, who presented due to a four-month-long oppressive, moderate pain in the lower right abdominal quadrant without irradiation or any other accompanying symptoms. DISCUSSION The documented incidence of appendiceal diverticula and chronic appendicitis by themselves is low; therefore the presence of both entities at the same time is extremely rare. CONCLUSION We present a case in which both diagnoses concurred in the same patient. The relevance of this case relies on the importance of the adequate knowledge of these pathologies, so we can approach them correctly. Although it does not represent an absolute surgical emergency, appendectomy represents the first therapeutic option. PMID:25460447

  5. Results of operative treatment of hypopharyngeal diverticulum.

    PubMed Central

    Bertelsen, S; Aasted, A

    1976-01-01

    The so-called hypopharyngeal diverticula may be classified, according to their size, localization, and form, into three stages. Small diverticula (first stage) should not be surgically removed, whereas all other diverticula, that is, those causing symptoms, must be surgically removed as soon after diagnosis as possible. Diverticulectomy performed in one stage is the treatment of choice. A series of patients is reviewed. The risk involved in surgery is found to be of minor degree, and the incidence of complications is low. Radiologically demonstrable recurrence may develop in 10% to 12% of all patients while clinical symptoms of recurrence are seen in only about 2%. PMID:825989

  6. 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.

  7. 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. At 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.

  8. Small Bowel Hamartoma: A Huge Diverticulum of Small Bowel

    PubMed Central

    Eltweri, Amar M.; Salama, Yahya; Gorgees, Neshtman; Naidu, Leena; Bowrey, David J.

    2013-01-01

    A-20-year old male, with no significant medical history, presented with clinical features mimicking a perforated acute appendicitis. Because of features of peritonitis, a laparotomy was performed which showed a segment of small bowel with multiple large diverticula and mesenteric cysts. A segmental small bowel resection was performed. The patient made an uneventful recovery from surgery. Histology revealed features of a small bowel hamartoma. PMID:24454405

  9. [Zenker's diverticulum: election of surgical treatment and outcome. Case presentation].

    PubMed

    Segura-González, José Manuel Carlos; Espinosa-González, Omar; García-Cano, Eugenio; Sánchez-Córdova, Gabriela; Hernández-Ceballos, Javier Alonso

    2014-01-01

    Antecedentes: los divertículos de Zenker son protrusiones de la mucosa faríngea a través de una zona débil de su pared posterior. Es un padecimiento raro, con una incidencia en México de aproximadamente 0.04% de la población. El tratamiento indicado es quirúrgico. Caso clínico: paciente masculino de 67 años de edad, que 15 meses antes del diagnóstico experimentó síntomas de: disfagia a sólidos y ocasionalmente a líquidos, ahogo por las noches, sialorrea, halitosis, pérdida de 3 kg en dos meses y aumento del apetito. El diagnóstico se confirmó a través de métodos de imagen y endoscopia. Se realizó exitosamente una diverticulectomía con miotomía de músculo cricofaríngeo. Al tercer día de operado pudo ingerir líquidos sin complicaciones, y fue dado de alta al sexto día. Un año después no había mostrado recurrencias. Conclusión: los procedimientos de invasión mínima son útiles en pacientes con comorbilidades porque requieren corto tiempo de anestesia y de hospitalización. En este medio, el tratamiento abierto es la mejor técnica para su resolución, ya que la capacitación para efectuar procedimientos endoscópicos representa un problema por la falta de infraestructura y personal especializado.

  10. Physiologic Basis for the Treatment of Epiphrenic Diverticulum

    PubMed Central

    Nehra, Dhiren; Lord, Reginald V.; DeMeester, Tom R.; Theisen, Jörg; Peters, Jeffrey H.; Crookes, Peter F.; Bremner, Cedric G.

    2002-01-01

    Objective To quantitate and characterize the motility abnormalities present in patients with epiphrenic diverticula and to assess the outcome of surgical treatment undertaken according to these abnormalities. Summary Background Data The concept that epiphrenic diverticula are complications of esophageal motility disorders rather than primary anatomic abnormalities is gradually becoming accepted. The inconsistency in identifying motility abnormalities in patients with epiphrenic diverticula is a major obstacle to the general acceptance of this concept. Methods The study population consisted of 21 consecutive patients with epiphrenic diverticula. All patients underwent videoesophagography, upper gastrointestinal endoscopy, and esophageal motility studies. The diverticula ranged in size from 3 to 10 cm and were predominantly right-sided. Seventeen patients underwent transthoracic diverticulectomy or diverticulopexy with esophageal myotomy and an antireflux procedure. The length of the myotomy was determined by the extent of the motility abnormality. Transhiatal esophagectomy was performed in one patient with multiple diverticula. Two patients declined surgical treatment and another patient died of aspiration before surgery. Symptomatic outcome was assessed via a questionnaire at a median of 24 months after surgery. Results The primary symptoms were dysphagia in 5 (24%) patients, dysphagia and regurgitation in 11 (52%) patients, and pulmonary symptoms in 5 (24%) patients. The median duration of the primary symptoms was 10 years. Esophageal motility abnormalities were identified in all patients. An esophageal motor disorder was diagnosed only by 24-hour ambulatory motility testing in one patient, and 24-hour ambulatory motility testing clarified the motility diagnosis in five other patients. The most common underlying disorder was achalasia, which was detected in nine (43%) patients. A hypertensive lower esophageal sphincter was diagnosed in three patients, diffuse esophageal spasm in five, “nutcracker” esophagus in two, and a nonspecific motor disorder in two patients. One patient had an intraoperative myocardial infarction and died. Two patients had persistent mild dysphagia after surgery. The remaining patients had complete relief of their primary symptoms. Conclusions There is a high prevalence of named motility disorders in patients with epiphrenic diverticula, and this condition is associated with the potential for lethal aspiration. Twenty-four-hour ambulatory motility testing can be helpful if the results of the stationary examination are normal or indefinite. Resection of the diverticula and a surgical myotomy of the manometrically defined abnormal segment results in relief of symptoms and protection from aspiration. PMID:11882756

  11. 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

  12. 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.

  13. [Anastomotic false-diverticulum causing an atypical dumping syndrome. A case report].

    PubMed

    Covarelli, P; Esperti, L; Fratto, A; Cerroni, M; Marianeschi, P; Cristofani, R

    2003-02-01

    Aim of the study is to evaluate the causes of dumping syndromes following partial gastrectomies, and to report an unusual feature of dumping. A case of early dumping due to diverticular-like dilation of gastro-jejunal anastomosis is described with preoperative imaging and intraoperative picture. The surgical correction led to complete clinical remission; the common causes and physiopathological bases of dumping are reviewed and the role of en-Y gastro-jejunal reconstruction is underlined in order to reduce the risk of developing the syndrome.

  14. [Apoplexy, diverticulum or Alzheimer disease? Deglutition disorders in seniors must always be evaluated!].

    PubMed

    Koester, M; Nekahm-Heis, D; Zorowka, P

    2003-01-23

    Problems with swallowing (dysphagia) occur in association with numerous illnesses. In many cases, however, they are either not recognized or considered not to require clarification, since other symptoms are of greater importance. In elderly, often multimorbid patients, neurodegenerative diseases, such as apoplexy, are the most common causes of dysphagia, but medications with central nervous side effects may also impair swallowing. The difficulty may be localized either in the oropharyngeal region or in the esophagus. There is considerable danger that such complications as aspiration pneumonia and malnutrition may occur and thus increase morbidity and mortality. In addition, the quality of life of the patient may also be diminished. The family doctor has the important task of initiating a differentiated diagnosis based on careful history-taking and a clinical examination that should include an inspection of the oral cavity and the nerves supplying the brain. Early treatment, for example, involving a logopedist, can be effective.

  15. Primary gastrointestinal stromal tumour of the ileum pre-operatively diagnosed as an abdominal abscess

    PubMed Central

    Rubini, Patrizia; Tartamella, Francesco

    2016-01-01

    The present case report described the acute presentation, diagnosis and management of a primary gastrointestinal stromal tumour (GIST) of the ileum. A male patient (age, 51 years) was admitted to Maggiore Hospital (Parma, Italy) due to presenting with fever, dysuria and lower abdominal pain. Ultrasonography and computed tomography showed a 7,5×5,5-cm pelvic mass containing air and purulent fluid indicative of an intraperitoneal abscess. The patient was subjected to diagnostic laparoscopy, which revealed a huge, soft cystic mass arising from the small bowel. The procedure was then converted to an open exploration through a midline incision. Ileal resection including a Meckel's diverticulum was performed. Macroscopic examination revealed that the cystic mass was filled with a large amount of pus, probably due to communication between the tumour mass and the small bowel lumen. In fact, the surgical specimen showed enteric leakage from the ileal mucosal ulcer into the tumour mass. Histopathology and immunohistochemistry of the abscess wall identified a spindle-cell mesenchymal-type, c-KIT-positive neoplasm. The post-operative course was uneventful and adjuvant imatinib mesylate was administered for 1 year. Follow-up by computed tomography demonstrated no tumour recurrence at 72 months after surgery. PMID:27900093

  16. Tales from previous times: important eponyms in pediatric surgery.

    PubMed

    Berger, Michael; Muensterer, Oliver; Harmon, Carroll M

    2014-01-01

    The use of eponyms in medicine has a long and captivating tradition, which applies to pediatric surgery as well. Unfortunately, even though these eponyms are widely used, oftentimes the fascinating personalities and lives behind these names remain unrecognized or underappreciated, especially among residents, fellows and younger-generation pediatric surgeons. Therefore, in this article, we review 15 names that are frequently used as eponyms in modern pediatric surgery and hereby enlighten the personalities behind them. Given their particular frequency, we choose the following eponyms: Ramstedt pylorotomy, Nissen fundoplication, Murphy's sign and sequence, McBurney's sign and incision, Meckel's diverticulum, Kasai portoenterostomy, Ladd's procedure, Morgagni and Bochdalek hernia, Ravitch operation, Nuss procedure, Hirschsprung disease, Swenson pullthrough, Peña procedure and Wilms tumor. A detailed description of the historical importance of these personalities and their contribution to our field is given. Without the appropriate historical background, it is difficult for the current younger and next generation pediatric surgeons to grasp the full spectrum of the ongoing progress in our field. Therefore, our article conveys not only important insight into the past, but also provides young surgeons with an important historical perspective essential to understand the current and future developments in modern pediatric surgery.

  17. Serous Cystadenocarcinoma Arising in Presumed Vitelline Duct Remnant: A Case Report and Implications in the Management of Cancer of Unknown Primary

    PubMed Central

    Lei, Li

    2016-01-01

    Background. Malignant neoplasms arising in Meckel's diverticulum, a vitelline duct remnant, are rare yet well-documented. Case Presentation. A 53-year-old previously healthy female presented with an enlarging midline abdominal wall mass. A computed tomography scan revealed a mass involving the linea alba, bilateral rectus abdominis, and subcutaneous fat. Extensive clinical workup failed to demonstrate other lesions, except local and paratracheal/hilar lymphadenopathy. Histopathologic examination of the resected tumor demonstrated a spectrum of serous neoplasia including serous cystadenoma, papillary serous carcinoma with numerous Psammoma bodies, and a poorly differentiated component. Immunophenotypically, the tumor cells were strongly positive for CK7, CK19, CA19.9, and MUC1 but negative for other lineage markers, findings suggestive of pancreatobiliary type differentiation. The patient died of the disease one year after the initial presentation despite chemotherapy, radiation, and surgery. Conclusion. We present a case of adenocarcinoma arising from the anterior midline abdominal wall, from presumed vitelline duct remnant, with histologic and immunophenotypic features of serous cystadenocarcinoma of pancreatobiliary origin. Though the origin from vitelline duct remnant is difficult to prove in this single case, understanding tumorigenesis of embryonic remnant origin is potentially important to improve the management of cancer of unknown primary. PMID:27999702

  18. Defecography by digital radiography: experience in clinical practice*

    PubMed Central

    Gonçalves, Amanda Nogueira de Sá; Sala, Marco Aurélio Sousa; Bruno, Rodrigo Ciotola; Xavier, José Alberto Cunha; Indiani, João Mauricio Canavezi; Martin, Marcelo Fontalvo; Bruno, Paulo Maurício Chagas; Nacif, Marcelo Souto

    2016-01-01

    Objective The objective of this study was to profile patients who undergo defecography, by age and gender, as well as to describe the main imaging and diagnostic findings in this population. Materials and Methods This was a retrospective, descriptive study of 39 patients, conducted between January 2012 and February 2014. The patients were evaluated in terms of age, gender, and diagnosis. They were stratified by age, and continuous variables are expressed as mean ± standard deviation. All possible quantitative defecography variables were evaluated, including rectal evacuation, perineal descent, and measures of the anal canal. Results The majority (95%) of the patients were female. Patient ages ranged from 18 to 82 years (mean age, 52 ± 13 years): 10 patients were under 40 years of age; 18 were between 40 and 60 years of age; and 11 were over 60 years of age. All 39 of the patients evaluated had abnormal radiological findings. The most prevalent diagnoses were rectocele (in 77%) and enterocele (in 38%). Less prevalent diagnoses were vaginal prolapse, uterine prolapse, and Meckel's diverticulum (in 2%, for all). Conclusion Although defecography is performed more often in women, both genders can benefit from the test. Defecography can be performed in order to detect complex disorders such as uterine and rectal prolapse, as well as to detect basic clinical conditions such as rectocele or enterocele. PMID:28100932

  19. [Current diagnostic-therapeutic trends in treatment of pediatric appendicitis].

    PubMed

    Malnati, R; Capasso, G; Stagni, S; Bua, L; Albisetti, A; Erenbourg, L; Paesano, P L

    1994-03-01

    Acute appendicitis is the first cause of emergency surgery in children. Actually, emergency abdominal sonography has evolved in differential diagnosis of acute appendicitis in children to differentiate it from other causes of acute abdomen as mesenteric lymphoadenitis, acute right pyelonephritis, acute diverticulitis in Meckel's diverticulum, intestinal intussusception, regional enterits, primary peritonitis, anaphylactoid purpura of Henoch-Schonlein. The aim of this study is the evaluation of the usefulness of abdominal sonography in diagnosing acute appendicitis in our current series of pediatric patients. We have operated 102 patients afflicted by appendicitis admitted to the pediatric department of Ospedale San Raffaele, Milano in a period of 5 years and operated on for appendectomy. In the last 2 years 36 patients were evaluated with abdominal sonography. This diagnostic tool showed in 34 (94.4%) a liquid effusion, sometimes thick of the right iliac fossa. In 2 patients the appendix had thickened layers, was edematous and the lumen was clearly filled with debris. Abdominal sonography has given a clear cut picture of the acute inflammatory process of the appendix. None of these patients has suffered from septic or obstructive complications. Mean duration of hospital stay was 6.35 days (3-15 days). Differential diagnosis of acute appendicitis can be extremely variable, from simple, paradigmatic situations to the most intriguing ones. This concept is well emphasized by William Silen when he says that "differential diagnosis of acute appendicits is an encyclopedic compendium of every abdominal disease that causes pain" in the 11th edition of Harrison's Principles of Internal Medicine.(ABSTRACT TRUNCATED AT 250 WORDS)

  20. A study of associated congenital anomalies with biliary atresia

    PubMed Central

    Gupta, Lucky; Bhatnagar, Veereshwar

    2016-01-01

    Background/Purpose: This study aims to analyze the incidence and type of various associated anomalies among infants with extrahepatic biliary atresia (EHBA), compare their frequency with those quoted in the existing literature and assess their role in the overall management. Materials and Methods: A retrospective study was performed on 137 infants who underwent the Kasai procedure for EHBA during the past 12 years. The medical records were reviewed for the incidence and type of associated anomalies in addition to the details of the management of the EHBA. Results: Of the137 infants, 40 (29.2%) were diagnosed as having 58 anomalies. The majority of patients had presented in the 3rd month of life; mean age was 81 ± 33 days (range = 20-150 days). There were 32 males and 8 females; boys with EHBA had a higher incidence of associated anomalies. Of these 40 patients, 22 (37.9%) had vascular anomalies, 13 patients (22.4%) had hernias (umbilical-10, inguinal-3), 7 patients (12.1%) had intestinal malrotation, 4 patients (6.8%) had choledochal cyst, 1 patient (1.7%) had Meckel's diverticulum, 3 patients (5%) had undergone prior treatment for jejunoileal atresias (jejunal-2, ileal-1), 2 patients (3.4%) had undergone prior treatment for esophageal atresia and tracheoesophageal fistula, 2 patients (3.4%) had spleniculi, and 2 patients (3.4%) were diagnosed as having situs inversus. Conclusions: The most common associated anomalies in our study were related to the vascular variation at the porta hepatis and the digestive system. The existence of anomalies in distantly developing anatomic regions in patients with EHBA supports the possibility of a “generalized” insult during embryogenesis rather than a “localized” defect. In addition, male infants were observed to have significantly more associated anomalies as compared with the female infants in contrast to earlier reports. PMID:26862288

  1. [A rare complication due to diverticulitis].

    PubMed

    Di Bernardo, N; D'Ambrosio, B; Mirenda, F; Cittadino, L; Vena, M

    1992-01-01

    The AA. report about a case of hepatic abscess found in a operated patient for perforation of a sigmoid diverticulum. The AA. made some consideration on the rarity of the hepatic abscess as complication of diverticulum perforation.

  2. A note on sampling digesta from the ileum of broilers in phosphorus digestibility studies.

    PubMed

    Rodehutscord, M; Dieckmann, A; Witzig, M; Shastak, Y

    2012-04-01

    The responses of broilers to increments of dietary P concentration in P retention and P prececal digestibility were studied in 2 experiments using Ross 308 broilers in their fourth week of age. The low-P basal diet was mainly based on corn, potato protein, and corn starch. Titanium dioxide was used as the indigestible marker. Monobasic calcium phosphate was added in 6 (experiment 1) or 5 (experiment 2) graded levels up to a maximum of 8.1 g of P/kg of the diet. Five (experiment 1) and 6 (experiment 2) replicated pens of 10 birds were used. Excreta were collected from trays underneath the pens. Birds were asphyxiated by carbon dioxide exposure and the ileum (from Meckel's diverticulum to 2-cm anterior to the ileo-ceca-colonic junction) was dissected. Digesta was collected from the entire section (experiment 1) or from 3 subsections of equal lengths (experiment 2). Excretion of P increased linearly with increasing dietary P concentration up to a level of about 5.2 g of P/kg of the diet and increased nonlinearly with further increase in dietary P. In contrast, P flow in the ileum increased linearly over the entire range of P intake. Up to the level of 5.2 g of P/kg of the diet, P excretion was slightly lower than P flow in the ileum, but responses in P excretion and P flow in the ileum were similar, suggesting that P excretion with urine is very low and unaffected by P intake when the birds are supplied with P below their requirement. Between the 3 subsections of the ileum, calculated digestibility was significantly different for the basal diet and the diet with the 3 lowest levels of P supplementation. We concluded that the response in P prececal digestibility to increments in dietary P concentration is linear over a wider range of dietary P than the response in P retention. When digesta is collected from the ileum for determination of P prececal digestibility, the first third of the ileum should not be considered.

  3. Association between Oesophageal Diverticula and Leiomyomas: A Report of Two Cases

    PubMed Central

    Chowdhry, Muhammad; Lorenzi, Bruno; Kadirkamanathan, Sritharan; Charalabopoulos, Alexandros

    2016-01-01

    We report two rare cases of female patients presenting with oesophageal leiomyoma associated with oesophageal diverticulum, both of whom were surgically managed. Oesophageal leiomyoma and oesophageal diverticulum are uncommon as separate entities and rare as combined disease presentation. Clinicians need to be aware of the rare combination of the two entities and need to be able to exclude the presence of a tumour (benign or malignant) within a diverticulum and so plan the optimum treatment. Herein, we present two cases of oesophageal leiomyoma within oesophageal diverticulum and we try to elucidate the association between the two. To date, there is no consensus whether a diverticulum is secondary to a leiomyoma or, on the contrary, a leiomyoma arises within a diverticulum. PMID:27885346

  4. Acute abdomen due to Meckel’s enterolith: Case report and review of the literature

    PubMed Central

    Yenidoğan, Erdinç; Kayaoğlu, Hüseyin Ayhan; Okan, İsmail; Özsoy, Zeki; Tali, Servet; Şahin, Mustafa

    2015-01-01

    Meckel’s diverticulum is a rare condition with an incidence of 1–3% in general population. It is usually asymptomatic and is incidentally detected during laparotomy/laparoscopy. Enterolith formation within Meckel’s diverticulum is even rarer. Herein, we present the diagnosis and management of a 50-year old patient with Meckel’s diverticulum enterolith and discuss this rare condition based on the literature. PMID:26504424

  5. Acrofacial dysostosis (AFD) with preaxial limb hypoplasia (Nager AFD) and club foot diagnosed in a fetus from 1812 in the anatomical collections at the University of Halle, Germany.

    PubMed

    Göbbel, Luminita; Schultka, Rüdiger; Klunker, Rudyard; Stock, Karsten; Wand, Dorothee; Olsson, Lennart; Gerlach, Antje; Tönnies, Holger

    2005-09-01

    The Anatomical Collections of the Department of Anatomy and Cell Biology at the University of Halle, Germany, comprise more than 8,000 specimens, about 600 of them congenital anomalies. The collection of abnormal human and animal specimens began with the private collections of Johann Friedrich Meckel the Elder (1724-1774), his son Philipp Friedrich Theodor Meckel (1755-1803), and his grandson Johann Friedrich Meckel the Younger (1781-1833). Meckel the Younger founded the science of developmental pathology in Germany. Radiographical techniques, computer tomographic methods (CT), magnetic resonance imaging (MRI), and molecular cytogenetic techniques, for example, comparative genomic hybridization (CGH) were used to diagnose abnormal human fetuses in the Meckel Collection. On examination of one of the human fetuses, originally described by JF Meckel the Younger in 1812 or earlier, we found striking clinical manifestations including mandibulofacial defects and preaxially malformed limbs. With respect to external findings, we propose that the condition is acrofacial dysostosis (AFD) with preaxial limb hypoplasia (Nager AFD) in combination with club foot, tibial torsion, and single umbilical artery. We used genetic analyses to test whether the observed limb malformations could be caused by aneuploidy. CGH-ratio profiles of all chromosomes were apparently normal. It is likely that Meckel's specimen is the earliest known fetus with Nager AFD.

  6. Evolutionary development of the middle ear in Mesozoic therian mammals.

    PubMed

    Ji, Qiang; Luo, Zhe-Xi; Zhang, Xingliao; Yuan, Chong-Xi; Xu, Li

    2009-10-09

    The definitive mammalian middle ear (DMME) is defined by the loss of embryonic Meckel's cartilage and disconnection of the middle ear from the mandible in adults. It is a major feature distinguishing living mammals from nonmammalian vertebrates. We report a Cretaceous trechnotherian mammal with an ossified Meckel's cartilage in the adult, showing that homoplastic evolution of the DMME occurred in derived therian mammals, besides the known cases of eutriconodonts. The mandible with ossified Meckel's cartilage appears to be paedomorphic. Reabsorption of embryonic Meckel's cartilage to disconnect the ear ossicles from the mandible is patterned by a network of genes and signaling pathways. This fossil suggests that developmental heterochrony and gene patterning are major mechanisms in homplastic evolution of the DMME.

  7. 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

  8. Incisional Hernia as a Cause of Blader Outlet Obstruction: A Case Report

    PubMed Central

    Ali, Shadan; Desai, Gunjan; Sharma, Kartikeya; Thomas, Shaji

    2016-01-01

    Incisional hernia usually contains intra peritoneal organs as its content. Extra peritoneal structures like bladder as a content of incisional hernia are relatively uncommon. We managed a young male with an incisional hernia containing a large bladder diverticulum as its content. The bladder diverticulum was going up to the base of scrotum along the posterolateral surface of penile corpora. The patient was diagnosed pre operatively with radiological investigations and underwent exploration with release of diverticulum from corpora and pubic arch followed by diverticulectomy and herniorraphy. To the best of our knowledge and available literature search, there isn’t any similar reported case. PMID:27790521

  9. 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

  10. 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.

  11. Drainage Pathway of the Superior Petrosal Vein Evaluated by CT Venography in Petroclival Meningioma Surgery.

    PubMed

    Kaku, Shougo; Miyahara, Kosuke; Fujitsu, Kazuhiko; Hataoka, Shunsuke; Tanino, Shin; Okada, Tomu; Ichikawa, Teruo; Abe, Toshiaki

    2012-10-01

    Objectives This study aimed to clarify the drainage location of the superior petrosal vein (SPV) in relation to Meckel's cave and the internal acoustic meatus (IAM) and to discuss its significance in petroclival meningioma surgery. Design Prospective clinical study. Setting Hospital-based. Participants Five patients with petroclival meningioma and 50 patients (primarily unruptured supratentorial aneurysm patients, with a few hemifacial spasm patients) with no posterior fossa lesions. Main Outcome Measures On computed tomography venography (CTV), the drainage site was classified into three patterns based on its relationship to Meckel's cave and the IAM: Meckel's cave type, Intermediate type, and Meatal type. Results In all patients, the SPV was patent and emptied into the superior petrosal sinus (SPS). In patients without posterior fossa lesions, 35% had Meckel's cave type, 54% had Intermediate type, and 11% had Meatal type. Of the five patients with petroclival meningioma, three had Intermediate type, and two had Meckel's cave type. Conclusion The SPV is a significant vein that should be preserved to prevent venous complications. Preoperative knowledge of the SPV drainage site is helpful for planning the approach and preserving the SPV in petroclival meningioma surgery.

  12. 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.

  13. 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

  14. 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…

  15. 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.

  16. Lemmel Syndrome Secondary to Duodenal Diverticulitis: A Case Report

    PubMed Central

    Wermers, Joshua D; Beteselassie, Nebiyu

    2017-01-01

    Lemmel syndrome occurs when a duodenal diverticulum causes obstructive jaundice due to a mechanical obstruction of the common bile duct. Additional pathophysiologic processes may also contribute to the development of Lemmel syndrome. These include duodenal diverticula causing dysfunction of the sphincter of Oddi as well as compression of the common bile duct by duodenal diverticula. It is uncommon for duodenal diverticulum to become inflamed. We report the case of a 25-year-old female presenting with unintentional weight loss and fatigue. Since her initial labs were concerning for possible infection with hepatobiliary abnormalities, a contrast-enhanced CT was obtained. This study revealed a large periampullary diverticulum with mucosal enhancement and fat stranding consistent with diverticulitis.

  17. Bladder diverticulitis: a case report.

    PubMed

    Silberman, Michael; Jeanmonod, Rebecca

    2011-01-01

    Bladder diverticulum, an outpouching of the mucosa through the muscular wall of the bladder, is a multifactorial disease process that can be either acquired or congenital. Although small diverticuli are usually asymptomatic, a large diverticulum may result in hematuria, urinary tract infection, acute abdomen due to its rupture, acute urinary retention, or neoplasm formation. We describe the case of an elderly gentleman who presented to the emergency department with abdominal pain and was ultimately diagnosed with bladder diverticulitis, a disease not previously described in the literature.

  18. Solitary caecal diverticulitis as an unusual cause of a right iliac fossa mass: a case report

    PubMed Central

    Kurer, Mohamed A

    2007-01-01

    Inflammation of a solitary caecal diverticulum is an uncommon pathological condition. Preoperatively the condition is almost indistinguishable from appendicitis, and is often confused with carcinoma of the caecum during operation. The typical patient with this condition is male, Asian, and in the fourth decade of life. This case is unusual in that the patient was a 26-year-old Caucasian man. PMID:17996114

  19. Percutaneous management of a nephrocutaneous fistula due to a pyelocaliceal diverticular calculus.

    PubMed

    Haney, P T; Bihrle, R; Kopecky, K K

    1992-09-01

    Nephrocutaneous fistulas arising from stone-containing pyelocaliceal diverticula are rare. We describe 2 patients who were treated by open drainage for perirenal abscesses. Subsequently, both patients presented with a nephrocutaneous fistula from a stone-containing pyelocaliceal diverticulum. These patients were successfully treated by percutaneous nephrostolithotomy with fulguration of the diverticula.

  20. MRI in Diagnosis of a Giant Prostatic Utricle

    PubMed Central

    Schey, William

    2014-01-01

    A prostatic utricle cyst is an epithelial lined diverticulum arising from the prostatic urethra and usually asymptomatic when small. When enlarged, it may be symptomatic and is typically accompanied by hypospadias. We present a case of a markedly enlarged prostatic utricle in a neonate without hypospadias, demonstrated on voiding cystourethrography (VCUG), ultrasound, and 1.5 Tesla MRI. PMID:25133006

  1. 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

  2. Scorpion katoikogenic ovariuterus - Much more alike to apoikogenic type than it seemed to be.

    PubMed

    Jędrzejowska, Izabela; Szymusiak, Kamil; Mazurkiewicz-Kania, Marta; Garbiec, Arnold

    2016-09-01

    Scorpions are viviparous matrotrophic arthropods. Both, fertilization and embryonic development occur in the female gonad called ovariuterus. Two distinct reproductive patterns are recognized among scorpions: apoikogenic and katoikogenic. In the ovariuterus of apoikogenic scorpions growing oocytes protrude from the ovarian wall and continue previtellogenic and vitellogenic growth on the gonad surface being accompanied by the follicular cells that cover the oocyte surface, and, in most families, the stalk cells that join the oocyte with the ovariuterus wall. In the katoikogenic ovariuterus the oocytes grow in outpocketings of the ovarian wall called diverticula. The aim of our study was to show the development and structure of the diverticula in two katoikogenic scorpions from the family Scorpionidae: Ophistothalmus boehmei and Heterometrus spinifer. We show that the somatic components of each diverticulum develop from the two epithelial layers of the ovariuterine wall. Before fertilization, the wall of the mature diverticula consists of two distinctive epithelial layers: an internal and an external one. Our observations reveal that the epithelial cells of the internal layer of the diverticulum show striking morphological resemblance to the follicular and stalk cells that accompany the growing oocytes in some apoikogenic scorpions. The external epithelial layer of the katoikogenic diverticulum seems to have no equivalents in the apoikogenic type. Functions of the somatic cells of the diverticulum are discussed.

  3. Image Diagnosis: Inferior Mesenteric Vein Thrombosis.

    PubMed

    Aggarwal, Avin; Garg, Shashank

    2015-01-01

    A 59-year-old man presented to the gastroenterology clinic with 2 weeks of worsening lower back pain. There was associated poor appetite, fatigue, night sweats, and chills. The patient's medical history was significant for well-controlled hypertension and sigmoid diverticulosis. The thrombosis probably resulted from inflammation in the adjacent diverticulum.

  4. Esophageal diverticula in Parma wallabies (Macropus parma).

    PubMed

    Okeson, Danelle M; Esterline, Meredith L; Coke, Rob L

    2009-03-01

    Four adult, wild caught Parma wallabies (Macropus parma) presented with intermittent, postprandial, midcervical swellings. Esophageal diverticula were discovered in the four animals. One of two wallabies was managed successfully with surgery. A third animal died of other causes. The fourth animal died with possible complications from the diverticulum. This is the first published report of esophageal diverticula in macropods.

  5. 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

  6. Novel CT-guided biopsy of isolated perineural spread of adenoid cystic carcinoma along the trigeminal nerve masquerading as chronic trigeminal neuropathy.

    PubMed

    Yong, Xian Zhang Eric; Dillon, Jonathan; Smith, Paul; Salinas-La Rosa, Cesar; Jhamb, Ashu

    2017-02-01

    The differential diagnoses for chronic peripheral neuropathy are broad and diagnosing a cause can be challenging. We present a case of isolated perineural spread of adenoid cystic carcinoma to the trigeminal nerve involving skull base foramina and Meckel's cave in the setting of chronic trigeminal neuropathy and no known prior malignancy. Computed tomography-guided core (CT) needle biopsy was needed to arrive at a diagnosis and a novel approach was required to obtain tissue from the trigeminal nerve lesion at foramen ovale.

  7. JPRS Report, East Europe

    DTIC Science & Technology

    2007-11-02

    the CPCZ [Czechoslovak These fellow citizens of ours must get cured of their Communist Party] Central Committee, and that it does "Magyar affliction...must come to grips with this racy and freedom it has come to know from the Federal fact and make every effort to cure themselves of their Republic...34Magyar psychosis " affecting them for more than 70 years. We are not depriving them of their language; let Meckel: That is true-without its having been

  8. An immunohistochemistry study of Sox9, Runx2, and Osterix expression in the mandibular cartilages of newborn mouse.

    PubMed

    Zhang, Hong; Zhao, Xiaopeng; Zhang, Zhiguang; Chen, Weiwei; Zhang, Xinli

    2013-01-01

    The purpose of this study is to investigate the spacial expression pattern and functional significance of three key transcription factors related to bone and cartilage formation, namely, Sox9, Runx2, and Osterix in cartilages during the late development of mouse mandible. Immunohistochemical examinations of Sox9, Runx2, and Osterix were conducted in the mandibular cartilages of the 15 neonatal C57BL/6N mice. In secondary cartilages, both Sox9 and Runx2 were weakly expressed in the polymorphic cell zone, strongly expressed in the flattened cell zone and throughout the entire hypertrophic cell zone. Similarly, both transcriptional factors were weakly expressed in the uncalcified Meckel's cartilage while strongly expressed in the rostral cartilage. Meanwhile, Osterix was at an extremely low level in cells of the flattened cell zone and the upper hypertrophic cell zone in secondary cartilages. Surprisingly, Osterix was intensely expressed in hypertrophic chondrocytes in the center of the uncalcified Meckel's cartilage while moderately expressed in part of hypertrophic chondrocytes in the rostral process. Consequently, it is suggested that Sox9 is a main and unique positive regulator in the hypertrophic differentiation process of mandibular secondary cartilages, in addition to Runx2. Furthermore, Osterix is likely responsible for phenotypic conversion of Meckel's chondrocytes during its degeneration.

  9. 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

  10. Closure of the middle ear with special reference to the development of the tegmen tympani of the temporal bone

    PubMed Central

    Rodríguez-Vázquez, José Francisco; Murakami, Gen; Verdugo-López, Samuel; Abe, Shin-ichi; Fujimiya, Mineko

    2011-01-01

    Closure of the middle ear is believed to be closely related to the evolutionary development of the mammalian jaw. However, few comprehensive descriptions are available on fetal development. We examined paraffin-embedded specimens of 20 mid-term human fetuses at 8–25 weeks of ovulation age (crown-rump length or CRL, 38–220 mm). After 9 weeks, the tympanic bone and the squamous part of the temporal bone, each of which was cranial or caudal to Meckel's cartilage, grew to close the lateral part of the tympanosquamosal fissure. At the same time, the cartilaginous tegmen tympani appeared independently of the petrous part of the temporal bone and resulted in the petrosquamosal fissure. Subsequently, the medial part of the tympanosquamosal fissure was closed by the descent of a cartilaginous inferior process of the tegmen tympani. When Meckel's cartilage changed into the sphenomandibular ligament and the anterior ligament of the malleus, the inferior process of the tegmen tympani interposed between the tympanic bone and the squamous part of the temporal bone, forming the petrotympanic fissure for the chorda tympani nerve and the discomalleolar ligament. Therefore, we hypothesize that, in accordance with the regression of Meckel's cartilage, the rapidly growing temporomandibular joint provided mechanical stress that accelerated the growth and descent of the inferior process of the tegmen tympani via the discomalleolar ligament. The usual diagram showing bony fissures around the tegmen tympani may overestimate the role of the tympanic bone in the fetal middle-ear closure. PMID:21477146

  11. 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

  12. Case Report: Trigeminal Neuralgia Caused by a Minute Meningioma with Hyperostosed Suprameatal Tubercle.

    PubMed

    Ishi, Yukitomo; Asaoka, Katsuyuki; Sugiyama, Taku; Yokoyama, Yuka; Yamazaki, Kazuyoshi; Echizenya, Sumire; Itamoto, Koji; Echizenya, Kohei

    2015-01-01

    Cerebellopontine angle tumors might occasionally provoke trigeminal neuralgia but are usually large enough to be diagnosed radiographically. We present a case of trigeminal neuralgia caused by a very small meningioma covering the suprameatal tubercle that displayed hyperostosis at the entrance of Meckel's cave and was not obvious on routine magnetic resonance (MR) images. A 72-year-old woman with intractable trigeminal neuralgia in the left V3 territory was referred to our institution. Preoperative imaging studies revealed that the left trigeminal nerve was medially distorted at the entrance of Meckel's cave by a laterally seated bone bulge covered by a minute enhanced lesion. Trigeminal nerve decompression surgery was performed via a retrosigmoid intradural suprameatal approach. We found a small meningioma that had compressed and flattened the trigeminal nerve root at the entrance of Meckel's cave, which was grossly and totally removed by suprameatal tubercle resection. There was no vascular compression of the trigeminal nerve root. The trigeminal neuralgia ceased completely after the operation. Accurate preoperative determination of the causative pathologies is essential to achieve adequate surgical results after microvascular decompression for neurovascular compression syndrome. Because conventional MR sequences are inadequate for the precise interpretation of complex neurovascular anatomy in the cerebellopontine angle and such small tumors can be overlooked on routine MR studies, high-resolution thin-slice MR examinations and careful radiological interpretations are required for correct diagnosis and treatment.

  13. Case Report: Trigeminal Neuralgia Caused by a Minute Meningioma with Hyperostosed Suprameatal Tubercle

    PubMed Central

    Ishi, Yukitomo; Asaoka, Katsuyuki; Sugiyama, Taku; Yokoyama, Yuka; Yamazaki, Kazuyoshi; Echizenya, Sumire; Itamoto, Koji; Echizenya, Kohei

    2015-01-01

    Cerebellopontine angle tumors might occasionally provoke trigeminal neuralgia but are usually large enough to be diagnosed radiographically. We present a case of trigeminal neuralgia caused by a very small meningioma covering the suprameatal tubercle that displayed hyperostosis at the entrance of Meckel's cave and was not obvious on routine magnetic resonance (MR) images. A 72-year-old woman with intractable trigeminal neuralgia in the left V3 territory was referred to our institution. Preoperative imaging studies revealed that the left trigeminal nerve was medially distorted at the entrance of Meckel's cave by a laterally seated bone bulge covered by a minute enhanced lesion. Trigeminal nerve decompression surgery was performed via a retrosigmoid intradural suprameatal approach. We found a small meningioma that had compressed and flattened the trigeminal nerve root at the entrance of Meckel's cave, which was grossly and totally removed by suprameatal tubercle resection. There was no vascular compression of the trigeminal nerve root. The trigeminal neuralgia ceased completely after the operation. Accurate preoperative determination of the causative pathologies is essential to achieve adequate surgical results after microvascular decompression for neurovascular compression syndrome. Because conventional MR sequences are inadequate for the precise interpretation of complex neurovascular anatomy in the cerebellopontine angle and such small tumors can be overlooked on routine MR studies, high-resolution thin-slice MR examinations and careful radiological interpretations are required for correct diagnosis and treatment. PMID:26351448

  14. Bladder pseudodiverticulum and debilitating dyspareunia: diagnostic and management dilemmas of a rare case.

    PubMed

    Nayyar, Rishi; Sood, Rajeev; Nayyar, Bharti Uppal; Khattar, Nikhil

    2015-05-01

    Dyspareunia in a woman often lacks a well-defined cause with complex etiology. Similarly wide-mouthed nonobstructive bladder diverticula are mostly managed conservatively with no single etiology. Herein a rare case of dyspareunia and urinary symptoms is described, which started following a lower segment cesarean section (LSCS). Ultrasonography, micturating cystogram, and cystoscopy revealed a large wide-mouthed bladder diverticulum. After 3 years of failed and varied conservative therapy and management dilemmas, exploration was done for diverticulectomy which revealed a diagnostic surprise. A post-LSCS thick adhesive band was found between the uterus and anterior abdominal wall as a direct cause for both the bladder diverticulum and dyspareunia. Adhesions after LSCS may cause varied symptoms which may be difficult to diagnose and leave the patient refractory to conservative therapy. Laparoscopy or exploration may be useful in such cases.

  15. 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.

  16. Pentalogy of Cantrell: Is Echocardiography Sufficient in the Neonatal Period?

    PubMed Central

    Zani-Ruttenstock, Elke; Zani, Augusto; Honjo, Osami; Chiu, Priscilla

    2017-01-01

    Pentalogy of Cantrell is a rare syndrome that is characterized by varying degrees of midline wall defects and congenital cardiac anomalies. A left ventricular diverticulum (LVD) is defined as partial ectopia cordis, can be part of the pentalogy of Cantrell, and can put the patient at risk of severe complications. Early diagnosis and ligation/resection of the LVD is important to prevent complications. We report on a case of pentalogy of Cantrell, in which a LVD was diagnosed only at 2 months of age despite preceding pre- and postnatal echocardiography. We conclude that in the suspicion of pentalogy of Cantrell, either complete or incomplete, cardiac magnetic resonance imaging should be performed, when possible, to avoid the potential complication of a herniating ventricular diverticulum. PMID:28344916

  17. 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

  18. Hidden female physiological resistance to male accessory gland substances in a simultaneous hermaphrodite

    PubMed Central

    Koene, Joris M.

    2017-01-01

    ABSTRACT To increase fertilization chances compared with rivals, males are favoured to transfer accessory gland proteins to females during mating. These substances, by influencing female physiology, cause alteration of her sperm usage and remating rate. Simultaneously hermaphroditic land snails with love-darts are a case in point. During courtship, a love-dart is pierced through the partner's body wall, thereby introducing accessory mucous gland products. This mucus physiologically increases paternity by inhibiting the digestion of donated sperm. The sperm, which are packaged in a spermatophore, are exchanged and received in an organ called the diverticulum. Because of its length, this organ was previously proposed to be a female anatomical adaptation that may limit the dart interference with the recipient's sperm usage. For reproductive success of the donor, an anatomically long spermatophore, relative to the partner's diverticulum, is beneficial as sperm can avoid digestion by exiting through the spermatophore's tail safely. However, the snail Eobania vermiculata possesses a diverticulum that is three times longer than the spermatophore it receives. Here, we report that the love-dart mucus of this species contains a contraction-inducing substance that shortens the diverticulum, an effect that is only properly revealed when the mucus is applied to another helicid species, Cornu aspersum. This finding suggests that E. vermiculata may have evolved a physiological resistance to the manipulative substance received via the love-dart by becoming insensitive to it. This provides useful insight into the evolution of female resistance to male manipulations, indicating that it can remain hidden if tested on a single species. PMID:28062580

  19. [Kommerell diverticula associated with dysphagia: a clinical case and review of the literature].

    PubMed

    Ferreira, Ricardo; Gallego, Javier; Roque, J; Pereira, R A; Mendes, M; Nobre, A; Cravino, J

    2008-01-01

    We report the case of a young female with disphagia and weigth loss caused by a vascular ring associated with right aortic arch, Kommerell diverticula, and left retroesophageal ligamentum arteriosum (ductus arteriosus). The patient underwent surgical treatment. A left thoracotomy was performed. Surgical technique included diverticulum ressection and an aortopexia. There were no major complications. We also discuss the incidence, pathology, diagnosis, clinical features and treatment of this rare disease.

  20. 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.

  1. Supernumerary nipples and renal malformations: a family study.

    PubMed

    Brown, Justin; Schwartz, Robert A

    2004-01-01

    We describe a family with supernumerary nipples and kidney and urinary tract malformations. The proband is a 59-year-old man with a supernumerary nipple and recently identified hypoplastic kidney, bladder diverticulum, and hypotonic bladder. His mother also has a supernumerary nipple and a recently identified hypoplastic kidney. Of his three children, all male, one has a supernumerary nipple but has not been evaluated for a kidney or urinary tract malformation. This familial disorder is discussed.

  2. Magnetic resonance imaging of female urethral and periurethral disorders.

    PubMed

    Surabhi, Venkateswar Rao; Menias, Christine O; George, Verghese; Siegel, Cary Lynn; Prasad, Srinivasa R

    2013-11-01

    This article reviews the normal anatomy of the female urethra, magnetic resonance (MR) imaging techniques, and the role of MR imaging in the evaluation of diverse urethral and periurethral diseases. Salient MR imaging findings of common and uncommon cystic urethral lesions (urethral diverticulum, Skene cyst, and vaginal cysts), and masses (urethral carcinoma, leiomyoma, melanoma, fibroepithelial polyp, caruncle, and mucosal prolapse) are presented. The evolving role of dynamic MR in the evaluation of stress urinary incontinence is reviewed.

  3. Large symptomatic gastric diverticula: Two case reports and a brief review of literature

    PubMed Central

    Marano, Luigi; Reda, Gianmarco; Porfidia, Raffaele; Grassia, Michele; Petrillo, Marianna; Esposito, Giuseppe; Torelli, Francesco; Cosenza, Angelo; Izzo, Giuseppe; Di Martino, Natale

    2013-01-01

    Gastric diverticula are rare and uncommon conditions. Most gastric diverticula are asymptomatic. When symptoms arise, they are most commonly upper abdominal pain, nausea and emesis, while dyspepsia and vomiting are less common. Occasionally, patients with gastric diverticula can have dramatic presentations related to massive bleeding or perforation. The diagnosis may be difficult, as symptoms can be caused by more common gastrointestinal pathologies and only aggravated by diverticula. The appropriate management of diverticula depends mainly on the symptom pattern and as well as diverticulum size. There is no specific therapeutic strategy for an asymptomatic diverticulum. Although some authors support conservative therapy with antacids, this provides only temporary symptom relief since it is not able to resolve the underlying pathology. Surgical resection is the mainstay of treatment when the diverticulum is large, symptomatic or complicated by bleeding, perforation or malignancy, with over two-thirds of patients remaining symptom-free after surgery, while laparoscopic resection, combined with intraoperative endoscopy, is a safe and feasible approach with excellent outcomes. Here, we present two cases of uncommon large symptomatic gastric diverticula with a discussion of the cornerstones in management and report a minimally invasive solution, with a brief review of the literature. PMID:24106415

  4. 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.

  5. New clues for the developing human biliary system at the porta hepatis.

    PubMed

    Tan, C E; Vijayan, V

    2001-01-01

    The human biliary system is formed from the hepatic diverticulum, a structure which develops from the embryonic foregut in the fourth week of gestation. The cephalic portion of the hepatic diverticulum lies within the septum transversum, and gives rise to entodermal cells which become the primitive hepatocytes. The caudal part of the hepatic diverticulum is molded by mesenchyme to form the gallbladder, cystic duct, and extrahepatic bile duct. The gallbladder is initially tubular in shape, and undergoes morphological changes to become saccular during the 11th week of gestation. The extrahepatic bile duct elongates and widens as gestation progresses, and intramural mucus glands develop. There is no solid stage during the development of the extrahepatic bile duct. The extrahepatic bile duct is a well-defined tubular structure by the 6th week of gestation, whereas the intrahepatic biliary system during this period of gestation is represented by the primitive ductal plate. The ductal plate undergoes structural changes from the 11th week of gestation, beginning at the porta hepatis and progressing through gestation to the periphery of the liver. This remodeling process shapes the ductal plate from a flat sheath of biliary epithelium surrounding the portal vein branches into a network of interconnecting tubular structures. Mesenchyme plays an important role in ductal plate remodeling. The intrahepatic biliary system is in luminal continuity with the extrahepatic bile duct throughout gestation at the porta hepatis. The major bile ducts at the porta hepatis are fully formed by the 16th week of gestation.

  6. The clinical importance of different localizations of the papilla associated with juxtapapillary duodenal diverticula

    PubMed Central

    Ozogul, Bunyami; Ozturk, Gurkan; Kisaoglu, Abdullah; Aydinli, Bulent; Yildirgan, Mehmet; Atamanalp, Sabri Selcuk

    2014-01-01

    Background Previous studies have evaluated the presence of juxtapapillary duodenal diverticula (JPDD) and the association with pancreatobiliary disease, but not the association of the papilla with an existing JPDD. We investigated the association of different localizations of the papilla with JPDD. Methods We studied patients in whom JPDD was detected during endoscopic retrograde cholangiopancreatography. Patients were classified into 3 groups: 1) papilla located inside the diverticulum, 2) papilla located at the edge of the diverticulum and 3) papilla located closer than 3 cm to the diverticulum. The patients were examined with respect to localization of papilla–diverticula and to the association of the localization with pancreaticobiliary disease. Results We enrolled 274 patients in our study. Biliary stone disease more frequently existed in group 3. The number of patients presenting with obstructive jaundice was higher in groups 2 (83.6%) and 3 (83.3%) than group 1 (66%). Cholangitis was more common in group 1 (21.3%) than in groups 2 (6.7%) and 3 (2.3%). The presence of biliary stone disease among patients presenting with pancreatitis was significantly different between groups 1 and 3 (p = 0.013) and between groups 2 and 3 (p = 0.017). The common bile duct more frequently contained stones or sludge in group 3 than in groups 1 and 2. Conclusion When the papilla is located close to the JPDD, the incidence of biliary stone disease decreases, and pancreatobiliary diseases are caused mostly in the absence of biliary stone disease. PMID:25265108

  7. Holoprosencephaly associated with caudal dysgenesis: a clinical-epidemiological analysis.

    PubMed

    Martínez-Frías, M L; Bermejo, E; García, A; Galán, E; Prieto, L

    1994-10-15

    We have studied 9 cases with the combination of some form of holoprosencephaly and any degree of caudal dysgenesis. The cases were identified through the Spanish Collaborative Study of Congenital Malformations (ECEMC). Of the 9 cases, 6 infants had an aneuploidy syndrome, one had Meckel syndrome, and 2 cases were of unknown etiology. We determined that the prevalence figure for the association of both conditions in the same child was 0.08 per 10,000 livebirths, and 18.8 times higher for stillbirths (i.e., 1.50/10,000). This prevalence is significantly higher than what would be expected by chance.

  8. 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.

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

    PubMed

    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

    2014-06-20

    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 multiorgan defects. Cilia are absent in Cc2d2a(-/-) embryonic node and other somatic tissues; disruption of cilia-dependent Shh signalling appears to underlie exencephaly in mutant embryos. The Cc2d2a(-/-) mouse embryonic fibroblasts (MEFs) lack cilia, although mother centrioles 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 electron microscopy. 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.

  10. Chondral ossification centers next to dental primordia in the human mandible: A study of the prenatal development ranging between 68 to 270mm CRL.

    PubMed

    Radlanski, Ralf J; Renz, Herbert; Zimmermann, Camilla A; Schuster, Felix P; Voigt, Alexander; Heikinheimo, Kristiina

    2016-11-01

    The human mandible is said to arise from desmal ossification, which, however, is not true for the entire body of the mandible: Meckel's cartilage itself is prone to ossification, at least its anterior part in the canine and incisor region. Also, within the coronoid and in the condylar processes there are cartilaginous cores, which eventually undergo ossification. Furthermore, there are a number of additional single cartilaginous islets arising in fetuses of 95mm CRL and more. They are located predominantly within the bone at the buccal sides of the brims of the dental compartments, mostly in the gussets between the dental primordia. They become wedge-shaped or elongated with a diameter of around 150-500μm and were also found in older stages up to 225mm CRL, which was the oldest specimen used in this study. This report is intended to visualize these single cartilaginous islets histologically and in 3-D reconstructions in stereoscopic images. Although some singular cartilaginous tissue within the mandible may be remains of the decaying Meckel's cartilage, our 3-D reconstructions clearly show that the aforementioned cartilaginous islets are independent thereof, as can be derived from their separate locations within the mandibular bone. The reasons that lead to these cartilaginous formations have remained unknown so far.

  11. Prenatal development of the human mandible. 3D reconstructions, morphometry and bone remodelling pattern, sizes 12-117 mm CRL.

    PubMed

    Radlanski, Ralf J; Renz, Herbert; Klarkowski, Marie C

    2003-10-01

    Human embryos and fetuses ( n=25) ranging from 12 to 117 mm CRL (crown-rump-length) were serially sectioned and the mandibles were reconstructed in 3D. In addition, characteristic areas of apposition, resorption and resting zones were projected onto the surface of the mandibular reconstructions after histological evaluation of the remodeling processes. Furthermore, morphometric data were taken to describe growth processes in horizontal views. In this way the changing outlines as seen in 3D could be correlated with the remodeling patterns and with the changes in growth. In these stages the mandible showed a general appositional growth, but resorption areas were found at the posterior margins of the mental foramen and at the lateral and medial posterior bony planes at concave surfaces. The bulging of bone underneath and over Meckel's cartilage could be recognized as active appositional growth areas. Meckel's cartilage itself lay in a trough which could be characterized by less apposition and even resorption. Questions were raised in how much the gap between our present knowledge of genetic expression of signaling molecules and the precise morphologic description of the mandibles can be bridged.

  12. Skeletogenesis in the swell shark Cephaloscyllium ventriosum.

    PubMed

    Eames, B Frank; Allen, Nancy; Young, Jonathan; Kaplan, Angelo; Helms, Jill A; Schneider, Richard A

    2007-05-01

    Extant chondrichthyans possess a predominantly cartilaginous skeleton, even though primitive chondrichthyans produced bone. To gain insights into this peculiar skeletal evolution, and in particular to evaluate the extent to which chondrichthyan skeletogenesis retains features of an osteogenic programme, we performed a histological, histochemical and immunohistochemical analysis of the entire embryonic skeleton during development of the swell shark Cephaloscyllium ventriosum. Specifically, we compared staining properties among various mineralizing tissues, including neural arches of the vertebrae, dermal tissues supporting oral denticles and Meckel's cartilage of the lower jaw. Patterns of mineralization were predicted by spatially restricted alkaline phosphatase activity earlier in development. Regarding evidence for an osteogenic programme in extant sharks, a mineralized tissue in the perichondrium of C. ventriosum neural arches, and to a lesser extent a tissue supporting the oral denticle, displayed numerous properties of bone. Although we uncovered many differences between tissues in Meckel's cartilage and neural arches of C. ventriosum, both elements impart distinct tissue characteristics to the perichondral region. Considering the evolution of osteogenic processes, shark skeletogenesis may illuminate the transition from perichondrium to periosteum, which is a major bone-forming tissue during the process of endochondral ossification.

  13. MKS3/TMEM67 Mutations Are a Major Cause of COACH Syndrome, a Joubert Syndrome Related Disorder with Liver Involvement

    PubMed Central

    Brancati, Francesco; Iannicelli, Miriam; Travaglini, Lorena; Mazzotta, Annalisa; Bertini, Enrico; Boltshauser, Eugen; D’Arrigo, Stefano; Emma, Francesco; Fazzi, Elisa; Gallizzi, Romina; Gentile, Mattia; Loncarevic, Damir; Mejaski-Bosnjak, Vlatka; Pantaleoni, Chiara; Rigoli, Luciana; Salpietro, Carmelo D.; Signorini, Sabrina; Stringini, Gilda Rita; Verloes, Alain; Zabloka, Dominika; Dallapiccola, Bruno; Gleeson, Joseph G.; Valente, Enza Maria

    2008-01-01

    The acronym COACH defines an autosomal recessive condition of Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma and Hepatic fibrosis. Patients present the “molar tooth sign”, a midbrain-hindbrain malformation pathognomonic for Joubert Syndrome (JS) and Related Disorders (JSRDs). The main feature of COACH is congenital hepatic fibrosis (CHF), resulting from malformation of the embryonic ductal plate. CHF is invariably found also in Meckel syndrome (MS), a lethal ciliopathy already found to be allelic with JSRDs at the CEP290 and RPGRIP1L genes. Recently, mutations in the MKS3 gene (approved symbol TMEM67), causative of about 7% MS cases, have been detected in few Meckel-like and pure JS patients. Analysis of MKS3 in 14 COACH families identified mutations in 8 (57%). Features such as colobomas and nephronophthisis were found only in a subset of mutated cases. These data confirm COACH as a distinct JSRD subgroup with core features of JS plus CHF, which major gene is MKS3, and further strengthen gene-phenotype correlates in JSRDs. PMID:19058225

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

    PubMed Central

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

    2015-01-01

    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

  15. The influence of the lower beak on the interorbital septum-prenasal process complex in the chick embryo.

    PubMed

    Wouterlood, F G; van Pelt, W

    1979-01-01

    The effect of removal of the lower beak on the development of the interorbital septumprenasal process (ISPP) complex was studied in chick embryos. In normal development the angle between the ventral contour of the interorbital septum and the long axis of the prenasal process increases. At the same time the angle between the ventral contour of the interorbital septum and the basal plate increases. After surgical removal of the prospective lower beak at stage 29, the position of the entire ISPP complex was altered in stage-38 embryos and the prenasal process showed elongation. In stage-38 embryos in which the prospective upper beak had been removed at stage 29, Meckel's cartilage was elongated. It is concluded that straightening of the angle between the ventral contour of the interorbital septum and the long axis of the prenasal process is not influenced by the lower beak, whereas the position of the entire ISPP complex and the size of the prenasal process are under the epigenetic influence of the lower beak. The position and size of Meckel's cartilage are under the epigenetic influence of the upper beak.

  16. An immunohistochemical study of matrix proteins in the craniofacial cartilage in midterm human fetuses.

    PubMed

    Shibata, S; Sakamoto, Y; Baba, O; Qin, C; Murakami, G; Cho, B H

    2013-12-02

    Immunohistochemical localization of collagen types I, II, and X, aggrecan, versican, dentin matrix protein (DMP)-1, martix extracellular phosphoprotein (MEPE) were performed for Meckel's cartilage, cranial base cartilage, and mandibular condylar cartilage in human midterm fetuses; staining patterns within the condylar cartilage were compared to those within other cartilaginous structures. Mandibular condylar cartilage contained aggrecan; it also had more type I collagen and a thicker hypertrophic cell layer than the other two types of cartilage; these three characteristics are similar to those of the secondary cartilage of rodents. MEPE immunoreactivity was first evident in the cartilage matrix of all types of cartilage in the human fetuses and in Meckel's cartilage of mice and rats. MEPE immunoreactivity was enhanced in the deep layer of the hypertrophic cell layer and in the cartilaginous core of the bone trabeculae in the primary spongiosa. These results indicated that MEPE is a component of cartilage matrix and may be involved in cartilage mineralization. DMP-1 immunoreactivity first became evident in human bone lacunae walls and canaliculi; this pattern of expression was comparable to the pattern seen in rodents. In addition, chondroid bone was evident in the mandibular (glenoid) fossa of the temporal bone, and it had aggrecan, collagen types I and X, MEPE, and DMP-1 immunoreactivity; these findings indicated that chondroid bone in this region has phenotypic expression indicative of both hypertrophic chondrocytes and osteocytes.

  17. Skeletogenesis in the swell shark Cephaloscyllium ventriosum

    PubMed Central

    Eames, B Frank; Allen, Nancy; Young, Jonathan; Kaplan, Angelo; Helms, Jill A; Schneider, Richard A

    2007-01-01

    Extant chondrichthyans possess a predominantly cartilaginous skeleton, even though primitive chondrichthyans produced bone. To gain insights into this peculiar skeletal evolution, and in particular to evaluate the extent to which chondrichthyan skeletogenesis retains features of an osteogenic programme, we performed a histological, histochemical and immunohistochemical analysis of the entire embryonic skeleton during development of the swell shark Cephaloscyllium ventriosum. Specifically, we compared staining properties among various mineralizing tissues, including neural arches of the vertebrae, dermal tissues supporting oral denticles and Meckel's cartilage of the lower jaw. Patterns of mineralization were predicted by spatially restricted alkaline phosphatase activity earlier in development. Regarding evidence for an osteogenic programme in extant sharks, a mineralized tissue in the perichondrium of C. ventriosum neural arches, and to a lesser extent a tissue supporting the oral denticle, displayed numerous properties of bone. Although we uncovered many differences between tissues in Meckel's cartilage and neural arches of C. ventriosum, both elements impart distinct tissue characteristics to the perichondral region. Considering the evolution of osteogenic processes, shark skeletogenesis may illuminate the transition from perichondrium to periosteum, which is a major bone-forming tissue during the process of endochondral ossification. PMID:17451531

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

    PubMed Central

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

    2016-01-01

    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

  19. 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.

  20. [Control of Anocentor nitens (Neumann, 1897) (Acari: Ixodidae) on equines].

    PubMed

    Bello, Ana Cristina P De P; Da Cunha, Arildo P; Leite, Romário C; Oliveira, Paulo R; Ribeiro, Antônio Cândido C L; Domingues, Luisa N; De Freitas, Carolina Maria V; Bastianetto, Eduardo; Dalla Rosa, Ricardo C

    2008-09-01

    This trial evaluated control practices of Anocentor nitens on equines, using spraying devices and application of acaricide paste formulation in the auricular pavilion and nasal diverticulum. The study was carried out from October 2003 to March of 2008 and the evaluations had been divided in the following stages: Phase 1--out/03 mar/04 and Phases 2, 3, 4 and 5, respectively, correspondents to the month's periods until março/08. It was used score of 0 to 3 to classify infestation levels. From abr/04 to mar/06 was implanted a schedule of acaricide sprayings every seven days and divided in two series. The first one beginning in April 2004 and the second beginning in July, both using six sprayings treatments with pyrethroid chemical base--cypermethrin 0,015%, plus topical treatments applied monthly in the auricular pavilions (powder acaricide). From abril/06 to março/08 was carried out similar schedule treatments, each two months, using an experimental acaricide paste in the auricular pavilion and nasal diverticulum. Phases 2 and 3 did not showed reduction of the parasitic loads of A. nitens compared to the control period. Whereas in Phases 4 and 5 registered significant reduction compared control period and also with the results of Phases 2 and 3, characterizing the effectiveness of the treatment with the acaricide paste formulation. Results demonstrated of A. nitens populations present in the nasal diverticulum are important in the maintenance of the infestations on equines, and necessary attention to this anatomical structure when controlling ticks.

  1. A Giant Urethral Calculus.

    PubMed

    Sigdel, G; Agarwal, A; Keshaw, B W

    2014-01-01

    Urethral calculi are rare forms of urolithiasis. Majority of the calculi are migratory from urinary bladder or upper urinary tract. Primary urethral calculi usually occur in presence of urethral stricture or diverticulum. In this article we report a case of a giant posterior urethral calculus measuring 7x3x2 cm in a 47 years old male. Patient presented with acute retention of urine which was preceded by burning micturition and dribbling of urine for one week. The calculus was pushed in to the bladder through the cystoscope and was removed by suprapubic cystolithotomy.

  2. 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.

  3. Surprises in operations on the inguinal area in young children.

    PubMed

    MARKS, R M

    1962-08-01

    In surgical operations in the inguinal area in infants and children many unusual pathologic states were observed that were at first thought to be simple hernia. Among the conditions observed, in addition to complicated hernias and other anomalies of the processus vaginalis, were male pseudo-hermaphroditism, ectopic spleen, ectopic adrenal with neuroblastoma, diverticulum of the bladder, inguinal adenitis and suppurative iliac adenitis. In light of the sometimes surprising contents of the hernia sac, good exposure and careful identification of all anatomic structures is mandatory.

  4. Hemostasis Achieved Endoscopically for Diverticular Bleeding from the Horizontal Portion of the Duodenum

    PubMed Central

    Matuso, Yasumasa; Yasuda, Hiroshi; Suzuki, Midori; Ishigooka, Shinya; Ozawa, Shun-ichiro; Yamashita, Masaki; Yamamoto, Hiroyuki; Itoh, Fumio

    2015-01-01

    Diverticulum of the horizontal portion of the duodenum is a rare cause of upper gastrointestinal (GI) bleeding. Since it is difficult to access the horizontal portion of the duodenum by standard upper GI endoscopy, only a very few cases of endoscopic hemostasis have been reported. Herein, we report a case of diverticular bleeding from the horizontal portion of the duodenum for which hemostasis was achieved using a small-caliber colonoscope, which has an insertion part designed with a passive-bending function/high-force transmission and a transparent tip hood. PMID:26692767

  5. [Gigantic coronary aneurysm arisen from coronary fistula between the left circumflex artery and the left ventricle].

    PubMed

    Uchida, T; Andou, H; Yasutsune, T; Iwai, T; Fukumura, F; Tanaka, J

    2008-12-01

    A 71-year-old male was referred to our hospital due to abnormality detected by a chest roentgenogram. He had no symptoms except for slight chest oppression. He was found to have a giant coronary aneurysm. It was originated from a coronary artery (left circum flex branch) left ventricular fistula. The orifice of this fistula to the left ventricle was also dilated and formed diverticulum. Ligation of the feeding coronary branch, closure of the aneurysmal fistula in the left ventricular wall and aneurysmectomy were performed under cardiopulmonary bypass. Postoperative course was uneventful. A giant aneurysm originated from a coronary-left ventricular fistula was considered to be very rare.

  6. Congenital subclavian steal syndrome with multiple cerebellar infarctions caused by an atypical circumflex retroesophageal right aortic arch with atretic aberrant left subclavian artery.

    PubMed

    Mamopoulos, Apostolos T; Luther, Bernd

    2014-09-01

    A right-sided aortic arch is a rare anomaly with an incidence of 0.1% worldwide and is usually associated with a mirror image of all supra-aortic branches or an aberrant left subclavian artery. The latter is often associated with a Kommerell diverticulum, although it can rarely be hypoplastic or atretic and lead to congenital subclavian steal. In most patients, the situation is well-tolerated. In this report, we present a case of subclavian steal syndrome with multiple cerebellar infarcts in a patient with an atypical right-sided aortic arch and an atretic aberrant left subclavian artery arising from a left-sided descending thoracic aorta.

  7. Congenital left ventricular aneurysm diagnosed by spiral CT angiography

    SciTech Connect

    Beregi, J.P.; Coulette, J.M.; Ducloux, G.

    1996-05-01

    We report a rare case of congenital left ventricular aneurysm, diagnosed by spiral CT angiography. Despite 1 s time acquisition, spiral CT, with adequate acquisition parameters and bolus injection of contrast medium, produced sufficiently good images to permit visualization of the aneurysm. Subsequently, reconstructions (shaded surface display and multiplanar reformation) were performed to demonstrate the relationship of the aneurysm with the remainder of the left ventricle, the wide neck of the aneurysm, and the absence of contractility, therein permitting differentiation from a congenital diverticulum. 6 refs., 3 figs.

  8. Transverse Colon Diverticulitis with Calcified Fecalith

    PubMed Central

    Solak, Aynur; Solak, Ilhami; Genç, Berhan; Sahin, Neslin; Yalaz, Seyhan

    2013-01-01

    Left colonic diverticula are common in Western populations, whereas right colonic diverticulosis primarily occurs in Oriental populations. Diverticulitis of the transverse colon is very rare, with very few cases reported in the literature. Herein, we report a case of transverse colon diverticulitis caused by a calcified stone in a 69-year-old female. This was a solitary diverticulum. The signs and symptoms of the disease are similar to acute pancreatitis. To the best of our knowledge, this is the first report describing the MRI findings of a patient with trans-verse colon diverticulitis caused by a calcified stone. PMID:25610254

  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

    2014-05-07

    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.

  10. Morphological aspects of the capybara stomach (Hydrochaeris hydrochaeris): gross and microscopic structure.

    PubMed

    Moraes, P T de Barros; Pacheco, M R; de Souza, W M; da Silva, R A; Neto, P B S; Barreto, C S de Figueiredo; Ribeiro, A A C M

    2002-12-01

    The digestive system of the capybara has been investigated because of its coprofagia habits, important for their absorptive activity. These species present differences in terms of gastrointestinal morphological characters when compared with other rodents. Macroscopiclly, the stomach of the capybara is constituted of the following parts: cardiac, pyloric, body, fundic and gastric diverticulum. It presents two curvatures, one big and another small. Externally, the presence of gastric bands (tenias) is observed. With regards to the volumetric view, the gastric capacity varies from 850 to 2010 ml, with an average of 1498.57 ml. So, the stomach of this animal can be classified as a simple stomach, in the format of a curved sack and similar to an inverted letter 'J'. The gastric mucous membrane presents a surface filled by numerous tortuous gastric folds and longitudinally distributed along all its extension. The mucous tunic also possesses recesses located among the successive gastric folds, which were denoted as gastric parts with numerous openings described as gastric pits. In the cardiac part, a glandular epithelium with cardiac glands is noticed containing a lot of parietal and mucous neck cells. The fundic part, body and gastric diverticulum contain proper gastric glands with main, parietal and mucous neck cells. Finally, the pyloric part has pyloric glands with two cellular types, mucous neck and parietal cells.

  11. Laparoscopy-assisted surgery for male imperforate anus with rectourethral fistula.

    PubMed

    Yamataka, Atsuyuki; Lane, Geoffrey J; Koga, Hiroyuki

    2013-10-01

    Laparoscopically assisted anorectal pull-through (LAARP), first described by Georgeson, is now considered to be the radical surgical treatment of choice for rectourethral fistula (RUF) in boys with high/intermediate-type imperforate anus. Accurate positioning of the pull-through canal, with pelvic floor muscles surrounding it symmetrically, is well recognized as the most important prognostic factor irrespective of the procedure performed. Surgical intervention should be LAARP with intraoperative measurement of the RUF, with follow-up focused on bowel habit. Complications such as diverticulum formation, have been reported with increasing frequency after LAARP and are most likely related to incomplete excision of the RUF, especially in bulbar cases. Thus, complete excision, while technically challenging, is crucial. Based on the results of a multicenter study comparing LAARP with other surgery, the most reliable investigation for detecting the presence of a diverticulum is MRI. At Juntendo University Hospital in Tokyo, Japan, blunt dissection with mosquito forceps to identify the potential pull-through canal, measuring the length of the RUF directly, and closer placement of trocars (in bulbar fistula cases) are homegrown refinements that we feel improve outcome and we present a review of our approach to the surgical management of ARM.

  12. Stomach lysozymes of the three-toed sloth (Bradypus variegatus), an arboreal folivore from the Neotropics.

    PubMed

    Pacheco, M Andreína; Concepción, Juan Luís; Rangel, José David Rosales; Ruiz, Marie Christine; Michelangeli, Fabián; Domínguez-Bello, María G

    2007-07-01

    Lysozymes are antimicrobial defences that act as digestive enzymes when expressed in the stomach of herbivores with pre-gastric fermentation. We studied this enzyme in the complex stomach of the three-toed sloth (Bradypus variegatus), a folivore with pre-gastric fermentation. Lysozymes were identified by SDS-PAGE and immunoblotting in all portions: diverticulum, pouch, glandular and muscular prepyloric area with 14.3 kDa of molecular mass. Purified lysozymes from all areas but the diverticulum were characterized by MALDI-TOF, optimal pH, optimal ionic strength, and specific activity. The differences observed suggested at least three isoforms. The optimal pHs were similar to the pH of the stomach portion where the enzymes were isolated. The lysozyme from the pouch (fermentation chamber) exhibited higher specific activity and concentration than the others. The specific activity of the enzyme from the acid muscular prepyloric portion was comparable to that reported in the cow abomasums; however, its concentration was lower than that observed in cow. This distinctive pattern of secretion/specific activity and overall low concentration suggests different roles for the lysozymes in this herbivore compared to Artiodactyla. We postulate that sloth stomach lysozymes may still be antimicrobial defences by protecting the microbial flora of the fermentation chamber against foreign bacteria.

  13. 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

  14. A fully coupled bolus-esophageal-gastric model for esophageal emptying based on the immersed boundary method

    NASA Astrophysics Data System (ADS)

    Kou, Wenjun; Pandolfino, John E.; Kahrilas, Peter J.; Patankar, Neelesh A.

    2016-11-01

    In this work, we develop a fully coupled bolus-esophageal-gastric model to study esophageal emptying based on the immersed boundary method. The model includes an esophageal segment, an ellipsoid-shaped stomach, and a bolus. It can easily handle the passive and active function of the lower esophageal sphincter (LES). Two groups of case studies are presented. The first group is about the influence from tissue anisotropy. Simulation shows that the weaker (or more compliant) part suffers from a higher wall shear stress and higher pressure load when the bolus is filled in and emptied from the LES segment. This implies a degradation cycle in which a weaker tissue becomes much weaker due to an increased load, a possible pathway to the esophageal lower diverticulum. The second group is about bulge formation resulting from asymmetric anatomy and a compliant LES. In particular, we find a right bulge tends to develop for a compliant LES. The bulge is most pronounced with a highest stiffness of the gastric wall. This implies that the competition between the LES stiffness and gastric wall stiffness might be another factor related to the esophageal lower diverticulum. The support of Grant R01 DK56033 and R01 DK079902 from NIH is gratefully acknowledged.

  15. Bladder explosion during transurethral resection of prostate: Bladder diverticula as an additional risk factor

    PubMed Central

    Vincent, D. Paul

    2017-01-01

    Vesical explosion during transurethral resection of the prostate (TURP) is a very rare occurrence. Very few cases have been reported in the literature. The literature was reviewed pertaining to the etiology of bladder explosion during transurethral resection. The underlying mechanism for intravesical explosion is the generation and trapping of explosive gasses under the dome of the bladder which eventually detonates when it comes into contact with the cautery electrode during TURP. Various techniques have been suggested to prevent this dreaded complication. A 75-year-old male with chronic retention of urine underwent TURP. There was Grade 2 trilobar enlargement of the prostate. There were multiple diverticula with one large diverticulum in the dome of the bladder. During hemostasis, there was a loud pop sound and the bladder exploded. Lower midline laparotomy was performed and the intraperitoneal bladder rupture was repaired. He had an uneventful postoperative recovery, and he is asymptomatic at 6 months of follow-up. Even though all the precautions were taken to avoid this complication, bladder rupture was encountered. The presence of multiple diverticula is being suggested as an additional risk factor for this complication as the bladder is thinned out and also possibly due to trapping of air bubble within the diverticulum. In such cases where there are multiple bladder diverticula, the employment of a suprapubic trocar for continuous drainage of the air bubble, could well be a practical consideration. PMID:28216933

  16. 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

  17. Immunohistochemical localization and biochemical changes in catalase and superoxide dismutase during metamorphosis in the olfactory system of frog Microhyla ornata.

    PubMed

    Gaupale, Tekchand C; Londhe, Jayant; Ghaskadbi, Saroj; Subhedar, N K; Bhargava, Shobha

    2012-02-01

    Amphibian metamorphosis is characterized by rapid tissue remodeling and drastic changes in the body structure and function. Like other organs, olfactory system also undergoes a dramatic rearrangement as the animal experiences transition from aquatic to terrestrial habitat. Reactive oxygen species (ROS) are known to play an important role during anuran metamorphosis and role of antioxidant enzymes like catalase and superoxide dismutase (SOD) are believed to play a major role in these processes. Therefore, we hypothesize that antioxidant enzymes in the olfactory system may undergo changes that reflect metamorphic processes. Immunohistochemical study revealed the presence of catalase and SOD in the olfactory receptor neurons and also granular reaction in olfactory epithelium of medial diverticulum during metamorphosis. Catalase and SOD immunoreactivity were seen in the epithelium of lateral diverticulum, vomeronasal organ as metamorphosis proceeds and in the apical lining of olfactory epithelium of adult frog. Biochemical study showed that catalase activity gradually increases in the olfactory system from metamorphic stage 40-46 and adult, while SOD activity decreases from stage 40 to 46 and increases in adult. Thus, the localization and relative levels of catalase and SOD during metamorphosis in the olfactory system suggests that these enzymes may be involved in protection from oxidative damage.

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

    PubMed

    Tëmkin, Ilya; Printrakoon, Cheewarat

    2016-05-02

    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.

  19. Complicated Jejunal Diverticulosis: Small Bowel Volvulus with Obstruction

    PubMed Central

    Mohi, Rommel Singh; Moudgil, Ashish; Bhatia, Suresh Kumar; Seth, Kaushal; Kaur, Tajinder

    2016-01-01

    The incidence of the diverticulum of the small bowel varies from 0.2-1.3% in autopsy studies to 2.3% when assessed on enteroclysis. It occurs mostly in patients in the 6th decade of their life. Of all the small bowel diverticuli, jejunal diverticulum is the most common type. This rare entity is usually asymptomatic. However, they may cause chronic non-specific symptoms for a long period of time like dyspepsia, chronic postprandial pain, nausea, vomiting, borborgymi, alternating diarrhoea and constipation, weight loss, anaemia, steatorrhea or rarely lead to complications like haemorrhage, obstruction, perforation. Obstruction can be due to enterolith, adhesions, intussusception, and volvulus. The condition is difficult to diagnose because patients are generally presented with symptoms that mimic other diseases. It is important for clinicians to have awareness of this entity. Here, we present a case of multiple jejunal diverticuli with a history of repeated attacks of diverticulitis over past 20 years, which were misdiagnosed and now presented with intestinal obstruction due to volvulus of the involved segment along with mesentery around its axis. Resection of the diverticuli segment of jejunum was done with end-to-end jejuno-jejunal anastomosis. The patient is asymptomatic since 10 months of follow-up. PMID:27853337

  20. 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

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

    PubMed Central

    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

  2. Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing.

    PubMed

    Knopp, C; Rudnik-Schöneborn, S; Eggermann, T; Bergmann, C; Begemann, M; Schoner, K; Zerres, K; Ortiz Brüchle, N

    2015-10-01

    Joubert syndrome (JS) and related disorders (JSRD), Meckel syndrome (MKS) and Bardet-Biedl syndrome (BBS) are autosomal recessive ciliopathies with a broad clinical and genetic overlap. In our multiethnic cohort of 88 MKS, 61 JS/JSRD and 66 BBS families we performed genetic analyses and were able to determine mutation frequencies and detection rates for the most frequently mutated MKS genes. On the basis of determined mutation frequencies, a next generation gene panel for JS/JSRD and MKS was established. Furthermore 35 patients from 26 unrelated consanguineous families were investigated by SNP array-based homozygosity mapping and subsequent DNA sequencing of known candidate genes according to runs of homozygosity size in descending order. This led to the identification of the causative homozygous mutation in 62% of unrelated index cases. Based on our data we discuss various strategies for diagnostic mutation detection in the syndromic ciliopathies JS/JSRD, MKS and BBS.

  3. Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos.

    PubMed

    Zhao, Chengtian; Malicki, Jarema

    2011-05-20

    Cilia are required for the development and function of many organs. Efficient transport of protein cargo along ciliary axoneme is necessary to sustain these processes. Despite its importance, the mode of interaction between the intraflagellar ciliary transport (IFT) mechanism and its cargo proteins remains poorly understood. Our studies demonstrate that IFT particle components, and a Meckel-Gruber syndrome 1 (MKS1)-related, B9 domain protein, B9d2, bind each other and contribute to the ciliary localization of Inversin (Nephrocystin 2). B9d2, Inversin, and Nephrocystin 5 support, in turn, the transport of a cargo protein, Opsin, but not another photoreceptor ciliary transmembrane protein, Peripherin. Interestingly, the components of this mechanism also contribute to the formation of planar cell polarity in mechanosensory epithelia. These studies reveal a molecular mechanism that mediates the transport of selected ciliary cargos and is of fundamental importance for the differentiation and survival of sensory cells.

  4. Mouse models of ciliopathies: the state of the art.

    PubMed

    Norris, Dominic P; Grimes, Daniel T

    2012-05-01

    The ciliopathies are an apparently disparate group of human diseases that all result from defects in the formation and/or function of cilia. They include disorders such as Meckel-Grüber syndrome (MKS), Joubert syndrome (JBTS), Bardet-Biedl syndrome (BBS) and Alström syndrome (ALS). Reflecting the manifold requirements for cilia in signalling, sensation and motility, different ciliopathies exhibit common elements. The mouse has been used widely as a model organism for the study of ciliopathies. Although many mutant alleles have proved lethal, continued investigations have led to the development of better models. Here, we review current mouse models of a core set of ciliopathies, their utility and future prospects.

  5. 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.

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

    PubMed Central

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

    2016-01-01

    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

  7. Fetus-in-fetu: a pediatric rarity.

    PubMed

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

    2014-02-01

    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.

  8. A new developmental mechanism for the separation of the mammalian middle ear ossicles from the jaw

    PubMed Central

    Urban, Daniel J.; Anthwal, Neal; Luo, Zhe-Xi; Maier, Jennifer A.; Sadier, Alexa

    2017-01-01

    Multiple mammalian lineages independently evolved a definitive mammalian middle ear (DMME) through breakdown of Meckel's cartilage (MC). However, the cellular and molecular drivers of this evolutionary transition remain unknown for most mammal groups. Here, we identify such drivers in the living marsupial opossum Monodelphis domestica, whose MC transformation during development anatomically mirrors the evolutionary transformation observed in fossils. Specifically, we link increases in cellular apoptosis and TGF-BR2 signalling to MC breakdown in opossums. We demonstrate that a simple change in TGF-β signalling is sufficient to inhibit MC breakdown during opossum development, indicating that changes in TGF-β signalling might be key during mammalian evolution. Furthermore, the apoptosis that we observe during opossum MC breakdown does not seemingly occur in mouse, consistent with homoplastic DMME evolution in the marsupial and placental lineages. PMID:28179517

  9. Localization of type II collagen, long form alpha 1(IX) collagen, and short form alpha 1(IX) collagen transcripts in the developing chick notochord and axial skeleton.

    PubMed

    Swiderski, R E; Solursh, M

    1992-06-01

    In this study we compare, by in situ hybridization, the spatial and temporal expression patterns of transcripts of avian type II collagen and the long and short forms of the (alpha 1) chain of type IX collagen during the development of the notochord and axial skeleton. We observed type II collagen and short form type IX collagen transcripts in the developing (stage 25-28) nonchondrogenic notochord. Conversely, long form type IX transcripts were not detectable in the notochord or perinotochordal sheath. Interestingly, all three transcripts colocalized in the developing chondrogenic vertebrae of the axial skeleton as well as in the chondrocranium and Meckel's cartilage. The expression of the short form of type IX collagen in these regions was more restricted than that of the long form. This report provides additional support for a complex regulatory pathway of cartilage marker gene expression in chondrogenic vs. nonchondrogenic tissues during avian embryogenesis.

  10. Annals of morphology fields and prepatterns. Editorial Festschrift for John C. Carey, MD, MPH.

    PubMed

    Opitz, John M

    2016-10-01

    The investigation of mammalian malformations began to approach human needs in the 19th century with, for example, Meckel's dissection of sibs with the "Meckel" syndrome, his intimation of Heredität as cause of the condition, his conclusion as to the common causal origin of this specific combination of congenital anomalies, the clear enunciation of the concept of primary malformations, the recognition that many human malformations are normal developmental states in other animals, and that some were normal anatomical states in remote ancestors and now still normal in collateral descendants (atavisms, Darwin's "reversions"; for example, four wings in dipterans, normal in dragonflies and their common ancestor). Later in the century, Wilhelm His Sr. had proposed a schematic map of "organ-forming districts" for prospective chick development, a concept that did not sit well with early workers in developmental biology (e.g., Boveri) until methods became available for a direct experimental "attack" on the embryo. This approach was pioneered by Spemann and Mangold through interspecies transplantation of embryonic rudiments with the spectacular result that set the research stage in developmental biology for the next many years. But it was not until mid-century that the late, great geneticist, Curt Stern, made the His model of chick development more intellectually and experimentally approachable with his meticulous analysis of cuticular appendages of Drosophila, one bristle and one bristle group (field) at a time, in mosaics or gynandromorphs, leading to the ingenious concept of prepatterns. As a basic scientist, Stern did not broaden prepatterns into medicine or to human malformations where it has now found a most gratifying application. This contribution to the Carey Festschrift is to summarize, briefly, field and prepattern theory. © 2016 Wiley Periodicals, Inc.

  11. 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.

  12. 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

  13. Logical hypothesis: Low FODMAP diet to prevent diverticulitis

    PubMed Central

    Uno, Yoshiharu; van Velkinburgh, Jennifer C

    2016-01-01

    Despite little evidence for the therapeutic benefits of a high-fiber diet for diverticulitis, it is commonly recommended as part of the clinical management. The ongoing uncertainty of the cause(s) of diverticulitis confounds attempts to determine the validity of this therapy. However, the features of a high-fiber diet represent a logical contradiction for colon diverticulitis. Considering that Bernoulli’s principle, by which enlarged diameter of the lumen leads to increased pressure and decreased fluid velocity, might contribute to development of the diverticulum. Thus, theoretically, prevention of high pressure in the colon would be important and adoption of a low FODMAP diet (consisting of fermentable oligosaccharides, disaccharides, monosaccharides, and polyols) may help prevent recurrence of diverticulitis. PMID:27867683

  14. Self-Expandable Stent for Repairing Coarctation of the Left-Circumferential Aortic Arch with Right-sided Descending Aorta and Aberrant Right Subclavian Artery with Kommerell's Aneurysm.

    PubMed

    Khajali, Zahra; Sanati, Hamid Reza; Pouraliakbar, Hamidreza; Mohebbi, Bahram; Aeinfar, Kamran; Zolfaghari, Reza

    2017-01-01

    Endovascular treatment offers a great advantage in the management of main arteries stenoses. However, simultaneous presence of a group of anomalies may complicate the situation. Here we present a case of 21-year-old man with aortic coarctation. Radiographic imaging and angiography demonstrated aortic coarctation of the left-circumferential aortic arch, right-sided descending aorta, and Kommerell's diverticulum at the origin of right subclavian artery. These anomalies have rarely been reported to concurrently exist in the same case and the treatment is challenging. Percutaneous treatment for repair of aortic coarctation was successfully performed with deployment of self-expanding nitinol stents. Follow-up demonstrated the correction of blood pressure and improvement of the symptoms. It appears that deployment of self-expandable nitinol stents present a viable option for the management of coarcted aorta in patients having all or some of these anomalies together.

  15. 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

  16. Logical hypothesis: Low FODMAP diet to prevent diverticulitis.

    PubMed

    Uno, Yoshiharu; van Velkinburgh, Jennifer C

    2016-11-06

    Despite little evidence for the therapeutic benefits of a high-fiber diet for diverticulitis, it is commonly recommended as part of the clinical management. The ongoing uncertainty of the cause(s) of diverticulitis confounds attempts to determine the validity of this therapy. However, the features of a high-fiber diet represent a logical contradiction for colon diverticulitis. Considering that Bernoulli's principle, by which enlarged diameter of the lumen leads to increased pressure and decreased fluid velocity, might contribute to development of the diverticulum. Thus, theoretically, prevention of high pressure in the colon would be important and adoption of a low FODMAP diet (consisting of fermentable oligosaccharides, disaccharides, monosaccharides, and polyols) may help prevent recurrence of diverticulitis.

  17. Toothpick inside the Common Bile Duct: A Case Report and Literature Review

    PubMed Central

    Brunaldi, M. O.; Masagao, R.; Silva, C.; Masuda, H.; Brunaldi, J. E.

    2017-01-01

    The incidence and prevalence of foreign body (FB) ingestion are difficult to estimate. Unlike other foreign bodies, the ingestion of a toothpick is very uncommon and carries high morbidity and mortality rates. We report a case of a 73-year-old female patient presenting mid-term epigastric pain. Abdominal ultrasound revealed a slightly dilated common bile duct (CBD) and magnetic resonance showed an irregular filling failure in distal CBD and gallstones. Endoscopic Retrograde Cholangiopancreatography revealed major papilla on the edge of a diverticulum and confirmed the distal filling failure. After sphincterotomy, a partially intact toothpick was extracted from the CBD. Neither fistulas nor perforation signs were found. Literature related to foreign bodies and toothpick ingestion was reviewed and some hypotheses to explain the reported case were created. To our knowledge, this is the first report of a toothpick lodged inside the biliary tract. PMID:28356912

  18. Laparoscopic Resection of Symptomatic Gastric Diverticula

    PubMed Central

    Zelisko, Andrea; Rodriguez, John; El-Hayek, Kevin

    2014-01-01

    Gastric diverticula are rare and usually asymptomatic. This report, however, describes two examples of symptomatic gastric diverticula successfully treated by laparoscopic resection. Both patients were male and in their sixth decade of life. One patient was relatively healthy with no past medical history, whereas the other patient had chronic pain issues and at presentation was also undergoing evaluation for hyperaldosteronism. The patients presented with gastrointestinal symptoms, including nausea, emesis, abdominal pain, and change in bowel function. In both cases, a gastric diverticulum was identified by CT scan, and precise anatomic position was determined by upper endoscopy. After discussion with the treating teams, including a gastroenterologist and surgeon, surgical treatment and resection was elected. Successful laparoscopic removal was accomplished in both patients, and they were discharged home after tolerating liquid diets. Both patients reported resolution of their abdominal symptoms at follow-up. PMID:24680154

  19. Hybrid SPECT-CT with 99mTc-labeled red blood cell in a case of blue rubber bleb nevus syndrome: added value over planar scintigraphy.

    PubMed

    Das, Kalpa Jyoti; Sharma, Punit; Naswa, Niraj; Soundararajan, Ramya; Kumar, Rakesh; Bal, Chandrasekhar; Malhotra, Arun

    2013-01-01

    Blue rubber bleb nevus syndrome (BRBNS) is a rare clinical entity characterized by multiple venous malformations (hemangiomas) of the skin and gastrointestinal tract. These hemangiomas usually cause episodes of occult gastrointestinal bleeding leading to iron deficiency anemia, and also carry a significant potential for serious hemorrhage. The 99mechnetium (99mTc)-labeled red blood cell scintigraphy has traditionally been utilized in the localization of occult bleeding sites in patients with suspected vascular malformations, angiodysplasia, and Meckel’s diverticulum. We report the incremental value of 99mTc-labeled red blood cell hybrid single-photon emission computed tomography-computed tomography (SPECT-CT) over planar scintigraphy alone in a 12-year-old female patient with BRBNS.

  20. 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.

  1. 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

  2. Paraurethral cyst with multiple stones: A rare case report

    PubMed Central

    Prakash, Gaurav; Karan, Shreya; Sankhwar, Satya Narayan; Karan, Sangeeta

    2016-01-01

    Paraurethral cyst is a benign cystic disorder of anterior vaginal wall. Many secondary complications have been described in literature, but stone formation in the cyst is a rare phenomenon. We are reporting a case of a 35-year-old multiparous woman who presented with lower urinary tract symptoms, dysuria, and dyspareunia. She was diagnosed as a case of the paraurethral cyst with stones and was managed successfully. Various differential diagnoses have been suggested, most important being urethral diverticulum, ruled out by urethroscopy. Many imaging modalities have been described, but physical examination plays the key role in reaching the diagnosis of stone. For definitive management incision over the cyst with stone removal followed by marsupialization is performed to prevent recurrence. PMID:28058006

  3. 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

  4. A rare case of cardiac anomaly: prenatally diagnosed ectopia cordis.

    PubMed

    Çelik, Yalçın; Hallıoğlu, Olgu; Basut, Nursel; Demetgül, Hasan; Esin Kibar, A

    2015-06-01

    Ectopia cordis is a rare congenital malformation in which the heart is located partially or totally outside the thoracic cavity. The estimated prevalence of ectopia cordis is 5.5-7.9 per million births and it comprises 0.1% of congenital heart diseases. Ectopia cordis is associated with other congenital heart diseases and various tissue and organ disorders. Common cardiac anomalies associated with ectopia cordis include ventricular septal defect, atrial septal defect, pulmonary stenosis, right ventricular diverticulum, double right ventricular outflow tract and tetralogy of Fallot. Extracardiac anomalies associated with ectopia cordis reported in the literature include omphalocele, gastrochisis, cleft lip and palate, scollosis and central nervous system malformations. Here we report a newborn with ectopia cordis who was diagnosed prenatally.

  5. A rare case of cardiac anomaly: prenatally diagnosed ectopia cordis

    PubMed Central

    Çelik, Yalçın; Hallıoğlu, Olgu; Basut, Nursel; Demetgül, Hasan; Esin Kibar, A.

    2015-01-01

    Ectopia cordis is a rare congenital malformation in which the heart is located partially or totally outside the thoracic cavity. The estimated prevalence of ectopia cordis is 5.5–7.9 per million births and it comprises 0.1% of congenital heart diseases. Ectopia cordis is associated with other congenital heart diseases and various tissue and organ disorders. Common cardiac anomalies associated with ectopia cordis include ventricular septal defect, atrial septal defect, pulmonary stenosis, right ventricular diverticulum, double right ventricular outflow tract and tetralogy of Fallot. Extracardiac anomalies associated with ectopia cordis reported in the literature include omphalocele, gastrochisis, cleft lip and palate, scollosis and central nervous system malformations. Here we report a newborn with ectopia cordis who was diagnosed prenatally. PMID:26265899

  6. A Case of Acute Traumatic Aortic Injury of a Right-sided Aortic Arch with Rupture of an Aberrant Left Subclavian Artery

    PubMed Central

    Taif, Sawsan; Al Kalbani, Jokha

    2013-01-01

    Acute traumatic aortic injury is a potentially lethal condition with most patients die at the scene of the accidents. Rapid deceleration due to motor vehicle accidents is the commonest mechanism of injury. These injuries can be successfully repaired in the few patients who survive the initial trauma if proper diagnosis and rapid treatment are provided. The occurrence of acute traumatic aortic injury in patients with congenital abnormality of the aortic arch has been rarely reported; however, it renders the diagnosis and treatment more difficult. In this paper, we describe an extremely rare case of aortic injury in a young patient who had a right sided aortic arch with rupture of an aberrant left subclavian artery. The patient was suspected to have a Kommerell’s diverticulum in the aberrant subclavian artery origin. This injury resulted in an unusually huge pseudoaneurysm involving part of the mediastinum and extending into the neck. Unfortunately; patient succumbed in spite of surgical intervention. PMID:24421931

  7. Left pneumothorax secondary to colonoscopic perforation of the sigmoid colon: a case report.

    PubMed

    Lovisetto, Federico; Zonta, Sandro; Rota, Emanuela; Mazzilli, Massimiliano; Faillace, Giuseppe; Bianca, Alessandro; Fantini, Alessio; Longoni, Mauro

    2007-02-01

    We present here the case of a 75-year-old woman who complained of acute abdominal pain after a diagnostic colonoscopy. Abdominal x-rays demonstrated pneumoperitoneum, whereas chest x-rays showed pneumomediastinum and left pneumothorax. A chest drain was placed and subsequently an exploratory laparoscopy was performed, during which air was found in the subserosa of the sigmoid colon and in the mesosigmoid secondary to perforation of a sigmoid diverticulum. The perforation was repaired and a protective loop colostomy was fashioned. The patient was discharged 8 days postoperatively in a good general condition. Although numerous cases of pneumoretroperitoneum and pneumomediastinum secondary to iatrogenic perforation of the colon have been described, reports of pneumothorax are much rarer. We, therefore, discuss the anatomic bases and the possible physiopathologic mechanisms responsible for this clinical complication.

  8. [Tomato peel: rare cause of biliary tract obstruction].

    PubMed

    Hagymási, Krisztina; Péter, Zoltán; Csöregh, Eva; Szabó, Emese; Tulassay, Zsolt

    2011-11-20

    Foreign bodies in the biliary tree are rare causes of obstructive jaundice. Food bezoars are infrequent as well. They can cause biliary obstruction after biliary tract interventions, or in the presence of biliary-bowel fistula or duodenum diverticulum. Food bezoars usually pass the gastrointestinal tract without any symptoms, but they can cause abdominal pain and obstructive jaundice in the case of biliary tract obstruction. Endoscopic retrograde cholangio-pancreatography has the major role in the diagnosis and the treatment of the disease. Authors summarize the medical history of a 91-year-old female patient, who developed vomiting and right subcostal pain due to the presence of tomato peel within the ductus choledochus.

  9. Giant Esophageal Lipoma as an Uncommon Cause of Diverticula

    PubMed Central

    Yekeler, Erdal; Yazicioglu, Alkin; Subasi, Mahmut; Boztepe, Hacer

    2016-01-01

    Esophageal lipoma is an uncommon benign tumor of the esophagus and accounts for only 0.4% of all benign neoplasms of the gastrointestinal system. The majority of these are located in the cervical part; only very few are located in the lower third of the esophagus. We discuss the case of a 37-year-old female who presented with dysphagia and an esophageal lipoma located in the lower third of the esophagus. The patient underwent right mini-thoracotomy and enucleation of lipoma. Histopathologic examination revealed adipose tissue with a collection of matured adipose tissue. We present the case because of the atypical localization of an esophageal lipoma and development of a diverticulum, which was caused by the lipoma and required an additional surgical procedure. PMID:27721731

  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.

  11. Importance of absent ductus arteriosus in tetralogy of Fallot with absent pulmonary valve syndrome.

    PubMed

    Qureshi, Muhammad Yasir; Burkhart, Harold M; Julsrud, Paul; Cetta, Frank

    2014-12-01

    Tetralogy of Fallot without pulmonary valve syndrome is almost always associated with an absent ductus arteriosus. Patients with right aortic arch and retroesophageal left subclavian artery have a vascular ring if the left ductus arteriosus or its remnant and the Kommerell diverticulum are present. We report the cases of 2 infants in whom the role of an absent ductus arteriosus or its remnant is noteworthy. Both patients had a combination of tetralogy of Fallot with absent pulmonary valve syndrome and right aortic arch with retroesophageal left subclavian artery without a vascular ring. The absence of the ductus arteriosus has a role in the pathogenesis of tetralogy of Fallot with absent pulmonary valve syndrome. The absence of a ductus arteriosus in the right aortic arch with retroesophageal left subclavian artery precludes a vascular ring.

  12. Risk factors for bacterial contamination during boar semen collection.

    PubMed

    Goldberg, Ana Maria G; Argenti, Laura E; Faccin, Jamil E; Linck, Lídia; Santi, Mônica; Bernardi, Mari Lourdes; Cardoso, Marisa R I; Wentz, Ivo; Bortolozzo, Fernando P

    2013-10-01

    The aim of this study was to evaluate the influence of multiple factors on bacterial contamination in 213 ejaculates from four boar studs. Semen contamination by aerobic mesophiles increased in ejaculates where the preputial fluid flowed into the collection container, collection glove was dirty, preputial hair was long (>1.0 cm), the collection lasted >7 min and boars were older than 18 months. An increase in coliforms occurred when preputial fluid dripped into the collection container, collections lasted >7 min or when penis escaped during collection. Semen contamination increased when two or more factors related to hygiene (poor hygiene of the boar, dirty preputial ostium, large preputial diverticulum, long preputial hair, dirty gloves, preputial liquid trickling from the hand of the technician into the semen container and penis escaping) were present. A vigilant protocol of collection must be followed to minimize bacterial contamination, especially avoiding dripping of preputial liquid into the semen container.

  13. 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.

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

    PubMed

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

    2015-12-16

    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.

  15. Intraluminal duodenal diverticula: collective review with report of a laparoscopic excision.

    PubMed

    Meinke, Alan Kurt; Meighan, Dennis M; Meinke, Mary E; Mirza, Nadia; Parris, Tchaiko M; Meinke, Richard K

    2013-02-01

    A comprehensive review of intraluminal duodenal diverticulum (IDD) is presented, along with a report of a completely laparoscopic excision of this duodenal abnormality as well as a report of magnetic resonance cholangiopancreatography demonstrating the classic fluoroscopic "wind sock sign" pathognomonic appearance of IDD. IDD may easily be missed unless one specifically considers this entity in patients presenting with symptoms of foregut disease. Patients with IDD typically present in the fourth decade of life with duration of symptoms less than 5 years that typically include pain, nausea and vomiting, pancreatitis, and gastrointestinal bleeding. Diagnosis usually requires imaging studies and upper gastrointestinal endoscopy. Laparoscopic excision is recommended because of superior visualization of significant intestinal anatomic abnormalities, the need for accurate ampullary localization, and the ability to facilitate complete diverticular excision while maintaining biliary and pancreatic ductal integrity. Review of surgical literature suggests that IDD results from congenital duodenal developmental abnormalities matured by long-term duodenal peristalsis.

  16. Rare cases reports of gastrointestinal stromal tumour (GIST)

    PubMed Central

    AMENDOLARA, M.; RAMUSCELLO, S.; BROGGIATO, A.; ANDREOTTI, A.; STEVANATO, G.; BONFIGLIO, M.; BERNARDI, M.; PARINI, D.; GALEOTTI, F.; RIZZO, M.

    2014-01-01

    The GISTs are rare tumours but even rarer is the localization in some districts. We reported two GISTs of the duodenum, two of the omentum and peritoneum, one of the rectum and one of a Meckel’s diverticulum. These exceptional locations are confirmed by the relative difficult diagnosis, obtained in some cases only by the surgical treatment despite the CT and MR. The endoscopy is useful in hemorrhagic and duodenum forms, only for the diagnosis and for the control of blood loss. Surgical treatment in all cases was decisive without the need to make use of adjuvant therapy, with positive long-term results, which excluded the disappearance of relapses or secondary lesions. PMID:24979104

  17. Urolithiasis associated with bilateral pelvic diverticula: a case report.

    PubMed

    Hamedbarghi, Gholam-Ali; Daghighi, Mohammad-Hossein

    2007-01-01

    We present a case of renal stone associated with bilateral pelvic diverticula. The initial diagnosis by ultrasonography and plain abdomen radiography (KUB) was urolithiasis with a 15-mm calculus in the right renal pelvis. The patient was referred for extracorporeal shock wave lithotripsy, but no stone fragments were yielded. So, further evaluations were performed by using repeated ultrasonography, intravenous urography, and computerized tomography, which revealed the presence of diverticula in both right and left renal pelvises with stone fragments within the right sided diverticulum. We concluded that intravenous urography and contrast-enhanced computerized tomography are essential for confirmation of diagnosis when ultrasonographic findings suggest the presence of renal cystic lesions, or when stone fragments are not yielded after extracorporeal shock wave lithotripsy.

  18. Medical management of urethral and colonic perforation associated with urinary catheterization in a kitten.

    PubMed

    Whittemore, Jacqueline C; Zucca, Lynda

    2003-09-15

    A 6-week-old male kitten was evaluated because of stranguria and possible urethral blockage; a urinary catheter placed during general anesthesia penetrated the urethral and colonic walls and entered the colon. Treatment was conservative, with fluids administered i.v., administration of piperacillin, and supportive care. The kitten never became febrile or clinically ill and continued to thrive. There was no development of clinical signs consistent with stricture, diverticulum, or fistula formation. Complications from urethral perforation include infection and urethral stricture. Reconstructive surgery is considered the treatment of choice for traumatic urethral-colonic perforation. However, surgery may not be feasible or may be cost-prohibitive in certain situations. In such instances, medical management may provide a reasonable alternative to euthanasia.

  19. Intractable hiccups caused by esophageal diverticular candidiasis in an immunocompetent adult: a case report

    PubMed Central

    Yahata, Shinsuke; Kenzaka, Tsuneaki; Kushida, Saeko; Nishisaki, Hogara; Akita, Hozuka

    2017-01-01

    Introduction Various causes of intractable hiccups have been reported; however, to the best of our knowledge, there are no previous reports of either intractable hiccups due to esophageal candidiasis in an immunocompetent adult or improvement following antifungal therapy. Case presentation An 87-year-old man presented with intractable hiccups. Although the patient was immunocompetent, he used proton pump inhibitors. An esophagogastroduodenos-copy revealed several white deposits throughout the esophagus and extensive white deposits in the midesophageal diverticulum. A mucosal culture showed candidiasis, which was suspected to be the cause of the intractable hiccups. After oral fluconazole had been prescribed, the candidiasis resolved and the hiccups improved. Therefore, we concluded that esophageal diverticular candidiasis was the cause of his intractable hiccups. Conclusion Physicians should consider esophageal candidiasis as one of the differential diagnoses for intractable hiccups, even in immunocompetent adults. PMID:28243153

  20. [Ureteral replacement using an ileal graft of reduced diameter. A preliminary report].

    PubMed

    Rampal, M; Rossi, D; Coulange, C; Bentolila, E; Masson, J; Vaillant, J L

    1991-02-01

    Extensive or even complete loss of the ureter of a functioning kidney makes it impossible to restore the normal continuity of the urinary tract by any available surgical technique. An ileal loop of appropriate length, anastomosed to the bladder with its entire lumen, is the only tissue suitable for replacing this missing ureter; this results in the formation of a megaureter or a vesical diverticulum which, although contractile, presents dimensions and conditions of anastomosis which predispose to the development of vesico-ileal reflux and a risk of torpid infection and dangerous reabsorption of the urine. We consider that it would be useful to use the ileum to create a contractile, reduced calibre tube with properties similar to those of the ureter. This technique, which has rare indications, is feasible as illustrated by the 5 cases reported here, corresponding to 7 uretero-ileoplasties modelled according to this technique. Results were satisfactory with a follow up of 6-24 months.

  1. Ureteral Reflux into an Ectopic Upper Moeity of a Duplex Kidney from the Bladder Neck with Distal Ureteral Pseudodiverticulum Formation

    PubMed Central

    George, Tom; Saxena, Deepali; Joseph, Thara; Hoisala, V Ravi

    2016-01-01

    Urinary incontinence is a condition causing significant psychological trauma and affects the quality of life of the affected individual. Though common causes of urinary incontinence of non-traumatic aetiology in young adults include detrusor instability and congenital conditions like meningomyelocoele, an ectopic ureter is an important surgically correctable cause of urinary incontinence. The cause of incontinence in an ectopic ureter is insertion of the ureter distal to the internal urethral sphincter. The authors describe a case report of an ectopic ureter arising from a duplex moiety with poor renal function using multiple modalities. This highlights the utility of multiple modalities in arriving at an accurate diagnosis, with adequate clinically useful information. In this case, the formation of a pseudo-diverticulum resulted in diagnostic confusion. PMID:27790549

  2. Ischaemic diverticular disease may mimic acute appendicitis

    PubMed Central

    Gallagher, Kara Lee

    2013-01-01

    An 81-year-old man with a medical history significant for diverticulosis and irritable bowel syndrome presented to the emergency department with a 1-day history of periumbilical pain that woke him from sleep and ultimately localised to his right lower quadrant. He reported nausea, anorexia and chills but denied vomiting, diarrhoea, melena, hematochezia or fever. His physical exam was notable for focal tenderness at McBurney's point. Diagnostic information included a normal white blood cell count and an abdominal CT scan that demonstrated a normal appendix with no other pathology noted. The patient opted to proceed with laparoscopy where a normal appendix was found. The caecum, however, contained a large ischaemic diverticulum not noted on CT scan. Following laparoscopic ileocecectomy, pathology demonstrated haemorrhage, inflammation, oedema and full thickness necrosis of the caecal wall. Recovery was uneventful; the patient was discharged from the hospital 3 days following surgery. PMID:23893271

  3. 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

  4. [Percutaneous treatment of calculosis in caliceal diverticulosis: 13-year experience].

    PubMed

    Lancini, V; Liatsikos, E N; Bernardo, N O; Dinlenc, C Z; Kapoor, R; Smith, A D

    2000-06-01

    We report our experience with the composition and management of caliceal diverticular stones for the past 13 years at our institution. Fourty patients with caliceal diverticular stones were treated percutaneously at Long Island Jewish Medical Center. The size of the diverticula ranged from 1 to 4.8 cm, with a mean size of 2.27 cm. The stone size ranged from 0.2 to 4.5 cm in diameter with an average of 1.7 cm. Twenty patients underwent a metabolic evaluation. Follow-up ranged from 8 months to 140 months with a mean of 72.5 months. We achieved a stone free rate of 95%. All 40 patients were free of pain and infection. The chemical composition of stones was identified in 38 patients. Twelve patients were found to have mainly calcium phosphate stones, 16 mainly calcium oxalate stones, 7 mainly uric acid stones and 3 were found with milk of calcium in their diverticulum. Thirty-five patients had complete resolution of their diverticula with normal urograms. The remaining 5 patients had at least 50% diminution of the diverticulum size. No one of the latter patients was found to have stone recurrence. Metabolic evaluation of the 40 patients showed in the 75% of the cases any metabolic abnormality, an absorptive hypercalciuria type II in two patients (10%), hyperuricosuric hypercalciuria in two cases (10%) and hyperoxaluria in one (5%). Percutaneous management of caliceal diverticular stones is a safe and effective modality compared to the existing alternative procedures reported in the literature.

  5. Multidetector-row computed tomography of thoracic aortic anomalies in dogs and cats: Patent ductus arteriosus and vascular rings

    PubMed Central

    2011-01-01

    Background Diagnosis of extracardiac intrathoracic vascular anomalies is of clinical importance, but remains challenging. Traditional imaging modalities, such as radiography, echocardiography, and angiography, are inherently limited by the difficulties of a 2-dimensional approach to a 3-dimensional object. We postulated that accurate characterization of malformations of the aorta would benefit from 3-dimensional assessment. Therefore, multidetector-row computed tomography (MDCT) was chosen as a 3-dimensional, new, and noninvasive imaging technique. The purpose of this study was to evaluate patients with 2 common diseases of the intrathoracic aorta, either patent ductus arteriosus or vascular ring anomaly, by contrast-enhanced 64-row computed tomography. Results Electrocardiography (ECG)-gated and thoracic nongated MDCT images were reviewed in identified cases of either a patent ductus arteriosus or vascular ring anomaly. Ductal size and morphology were determined in 6 dogs that underwent ECG-gated MDCT. Vascular ring anomalies were characterized in 7 dogs and 3 cats by ECG-gated MDCT or by a nongated thoracic standard protocol. Cardiac ECG-gated MDCT clearly displayed the morphology, length, and caliber of the patent ductus arteriosus in 6 affected dogs. Persistent right aortic arch was identified in 10 animals, 8 of which showed a coexisting aberrant left subclavian artery. A mild dilation of the proximal portion of the aberrant subclavian artery near its origin of the aorta was present in 4 dogs, and a diverticulum analogous to the human Kommerell's diverticulum was present in 2 cats. Conclusions Contrast-enhanced MDCT imaging of thoracic anomalies gives valuable information about the exact aortic arch configuration. Furthermore, MDCT was able to characterize the vascular branching patterns in dogs and cats with a persistent right aortic arch and the morphology and size of the patent ductus arteriosus in affected dogs. This additional information can be of help

  6. The marine mites Hyadesia sp. and Copidognathus sp. Associated with the mussel Mytilus galloprovincialis.

    PubMed

    Cáceres-Martínez, J; Vásquez-Yeomans, R; Rentería, Y G; Curiel-Ramírez, S; Valdéz, J A; Rivas, G

    2000-10-01

    Two species of marine mites belonging to the families Hyadesiidae and Halacaridae, Hyadesia sp. and Copidognathus sp., respectively, were found associated with the mussel Mytilus galloprovincialis from Baja California in NW México. The first species was found inside the mussel gut with an intensity ranging from one to six mites per mussel and their prevalence was from 20.0 to 46.7%; this species was also found living free in the sediment at a density of 0.7 mite/100 ml. The second species was found on the mantle and gills of the host with an intensity ranging from one to three mites per host and their prevalence was from 3.3 to 6.7%; this species was abundant (4.5 mites/100 ml) and living free in the sediment around mussel clumps. Hyadesia sp. was found alive and attached in the gut of the mussel. A histological analysis revealed this species in the lumen of intestine surrounded by mucus and attached to the epithelial cells of the intestine, where some disorder of epithelial cells was associated. Moreover, this mite may be encapsulated by hemocytes inside the digestive diverticulum, the reproductive follicle, or the connective tissue surrounding the diverticulum. No damages to branches or gills resulting from the presence of Copidognathus sp. were observed. The results suggest that these mites are occasional invaders of mussels; however, as a result of this infestation, Hyadesia sp. may produce damage in the host's tissues. This is the first record of marine mites inside the gut, reproductive follicles, branches, and mantle of a marine bivalve.

  7. 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.

  8. 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

  9. 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.

  10. Testbed for an adaptive secondary mirror of 1.8m telescope

    NASA Astrophysics Data System (ADS)

    Fan, Xinlong; Guan, Chunlin; Rao, Changhui

    2010-11-01

    Testbed for an adaptive secondary mirror of 1.8m telescope is a system, which originates from Simpson-Oland-Meckel method. The testbed is composed of Hartmann-Shack (H-S) wavefront sensor, Hindle element and analysis element. Light from H-S wavefront sensor passes through the Hindle element and reflects off of the adaptive secondary mirror. It then is reflected by the concave surface of the Hindle element. After reflecting off of the adaptive secondary mirror again, it passes through the Hindle element and return to the H-S wavefront sensor. A beam splitter is placed between H-S wavefront sensor and Hindle element to reflect part of the output light to analysis element. The testbed is a low cost simple system that allows testing the convex hyperboloid adaptive secondary mirror. It also could be used to calibrate the adaptive secondary mirror as well as investigating higher performance control loops. Optical setup design, tolerance of fabrication, alignment and material asymmetry are presented in this paper.

  11. 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

  12. NDRC: A Disease-Causing Genes Prioritized Method Based on Network Diffusion and Rank Concordance.

    PubMed

    Fang, Minghong; Hu, Xiaohua; Wang, Yan; Zhao, Junmin; Shen, Xianjun; He, Tingting

    2015-07-01

    Disease-causing genes prioritization is very important to understand disease mechanisms and biomedical applications, such as design of drugs. Previous studies have shown that promising candidate genes are mostly ranked according to their relatedness to known disease genes or closely related disease genes. Therefore, a dangling gene (isolated gene) with no edges in the network can not be effectively prioritized. These approaches tend to prioritize those genes that are highly connected in the PPI network while perform poorly when they are applied to loosely connected disease genes. To address these problems, we propose a new disease-causing genes prioritization method that based on network diffusion and rank concordance (NDRC). The method is evaluated by leave-one-out cross validation on 1931 diseases in which at least one gene is known to be involved, and it is able to rank the true causal gene first in 849 of all 2542 cases. The experimental results suggest that NDRC significantly outperforms other existing methods such as RWR, VAVIEN, DADA and PRINCE on identifying loosely connected disease genes and successfully put dangling genes as potential candidate disease genes. Furthermore, we apply NDRC method to study three representative diseases, Meckel syndrome 1, Protein C deficiency and Peroxisome biogenesis disorder 1A (Zellweger). Our study has also found that certain complex disease-causing genes can be divided into several modules that are closely associated with different disease phenotype.

  13. Formation of the transition zone by Mks5/Rpgrip1L establishes a ciliary zone of exclusion (CIZE) that compartmentalises ciliary signalling proteins and controls PIP2 ciliary abundance

    PubMed Central

    Jensen, Victor L; Li, Chunmei; Bowie, Rachel V; Clarke, Lara; Mohan, Swetha; Blacque, Oliver E; Leroux, Michel R

    2015-01-01

    Cilia are thought to harbour a membrane diffusion barrier within their transition zone (TZ) that compartmentalises signalling proteins. How this “ciliary gate” assembles and functions remains largely unknown. Contrary to current models, we present evidence that Caenorhabditis elegans MKS-5 (orthologue of mammalian Mks5/Rpgrip1L/Nphp8 and Rpgrip1) may not be a simple structural scaffold for anchoring > 10 different proteins at the TZ, but instead, functions as an assembly factor. This activity is needed to form TZ ultrastructure, which comprises Y-shaped axoneme-to-membrane connectors. Coiled-coil and C2 domains within MKS-5 enable TZ localisation and functional interactions with two TZ modules, consisting of Meckel syndrome (MKS) and nephronophthisis (NPHP) proteins. Discrete roles for these modules at basal body-associated transition fibres and TZ explain their redundant functions in making essential membrane connections and thus sealing the ciliary compartment. Furthermore, MKS-5 establishes a ciliary zone of exclusion (CIZE) at the TZ that confines signalling proteins, including GPCRs and NPHP-2/inversin, to distal ciliary subdomains. The TZ/CIZE, potentially acting as a lipid gate, limits the abundance of the phosphoinositide PIP2 within cilia and is required for cell signalling. Together, our findings suggest a new model for Mks5/Rpgrip1L in TZ assembly and function that is essential for establishing the ciliary signalling compartment. PMID:26392567

  14. Anatomical nuances of the internal carotid artery in relation to the quadrangular space.

    PubMed

    Dolci, Ricardo L L; Ditzel Filho, Leo F S; Goulart, Carlos R; Upadhyay, Smita; Buohliqah, Lamia; Lazarini, Paulo R; Prevedello, Daniel M; Carrau, Ricardo L

    2017-02-24

    OBJECTIVE The aim of this study was to evaluate the anatomical variations of the internal carotid artery (ICA) in relation to the quadrangular space (QS) and to propose a classification system based on the results. METHODS A total of 44 human cadaveric specimens were dissected endonasally under direct endoscopic visualization. During the dissection, the anatomical variations of the ICA and their relationship with the QS were noted. RESULTS The space between the paraclival ICAs (i.e., intercarotid space) can be classified as 1 of 3 different shapes (i.e., trapezoid, square, or hourglass) based on the trajectory of the ICAs. The ICA trajectories also directly influence the volumetric area of the QS. Based on its geometry, the QS was classified as one of the following: 1) Type A has the smallest QS area and is associated with a trapezoid intercarotid space, 2) Type B corresponds to the expected QS area (not minimized or enlarged) and is associated with a square intercarotid space, and 3) Type C has the largest QS area and is associated with an hourglass intercarotid space. CONCLUSIONS The different trajectories of the ICAs can modify the area of the QS and may be an essential parameter to consider for preoperative planning and defining the most appropriate corridor to reach Meckel's cave. In addition, ICA trajectories should be considered prior to surgery to avoid injuring the vessels.

  15. 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.

  16. Time-dependent dynamics of intense laser-induced above threshold Coulomb explosion

    NASA Astrophysics Data System (ADS)

    Esry, B. D.; Ben-Itzhak, I.

    2007-06-01

    We use our recently proposed model [1] to extract information about the nuclear dynamics from the recent Coulomb explosion data of Staudte et al. taken with 40 fs pulses [2]. That data, taken at multiple intensities near the ionization appearance intensity for both H2 and D2 in linearly and circularly polarized light, shows remarkable structure and regularity not easily explained by conventional models. Because our model does fit the spectra well, we can infer the qualitative time-dependent evolution of the system. In addition, we speculate about the possibility of rescattering leading to above threshold Coulomb explosion. [1] B.D. Esry, A.M. Sayler, P.Q. Wang, K.D. Carnes, and I. Ben-Itzhak, Phys. Rev. Lett. 97, 013003 (2006). [2] A. Staudte, D. Pavici'c, S. Chelkowski, D. Zeidler, M. Meckel, H. Niikura, M. Sch"offler, S. Sch"ossler, B. Ulrich, P. P. Rajeev, Th. Weber, T. Jahnke, D.M. Villeneuve, A.D. Bandrauk, C.L. Cocke, P.B. Corkum, and R. D"orner, Phys. Rev. Lett. (accepted).

  17. 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).

  18. 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

  19. MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis

    PubMed Central

    Williams, Corey L.; Kida, Katarzyna; Inglis, Peter N.; Mohan, Swetha; Semenec, Lucie; Bialas, Nathan J.; Stupay, Rachel M.; Chen, Nansheng

    2011-01-01

    Meckel-Gruber syndrome (MKS), nephronophthisis (NPHP), and related ciliopathies present with overlapping phenotypes and display considerable allelism between at least twelve different genes of largely unexplained function. We demonstrate that the conserved C. elegans B9 domain (MKS-1, MKSR-1, and MKSR-2), MKS-3/TMEM67, MKS-5/RPGRIP1L, MKS-6/CC2D2A, NPHP-1, and NPHP-4 proteins exhibit essential, collective functions at the transition zone (TZ), an underappreciated region at the base of all cilia characterized by Y-shaped assemblages that link axoneme microtubules to surrounding membrane. These TZ proteins functionally interact as members of two distinct modules, which together contribute to an early ciliogenic event. Specifically, MKS/MKSR/NPHP proteins establish basal body/TZ membrane attachments before or coinciding with intraflagellar transport–dependent axoneme extension and subsequently restrict accumulation of nonciliary components within the ciliary compartment. Together, our findings uncover a unified role for eight TZ-localized proteins in basal body anchoring and establishing a ciliary gate during ciliogenesis, and suggest that disrupting ciliary gate function contributes to phenotypic features of the MKS/NPHP disease spectrum. PMID:21422230

  20. 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

  1. The fate of cranial neural crest cells in the Australian lungfish, Neoceratodus forsteri.

    PubMed

    Ericsson, Rolf; Joss, Jean; Olsson, Lennart

    2008-06-15

    The cranial neural crest has been shown to give rise to a diversity of cells and tissues, including cartilage, bone and connective tissue, in a variety of tetrapods and in the zebrafish. It has been claimed, however, that in the Australian lungfish these tissues are not derived from the cranial neural crest, and even that no migrating cranial neural crest cells exist in this species. We have earlier documented that cranial neural crest cells do migrate, although they emerge late, in the Australian lungfish. Here, we have used the lipophilic fluorescent dye, DiI, to label premigratory cranial neural crest cells and follow their fate until stage 43, when several cranial skeletal elements have started to differentiate. The timing and extent of their migration was investigated, and formation of mandibular, hyoid and branchial streams documented. Cranial neural crest was shown to contribute cells to several parts of the head skeleton, including the trabecula cranii and derivatives of the mandibular arch (e.g., Meckel's cartilage, quadrate), the hyoid arch (e.g., the ceratohyal) and the branchial arches (ceratobranchials I-IV), as well as to the connective tissue surrounding the myofibers in cranial muscles. We conclude that cranial neural crest migration and fate in the Australian lungfish follow the stereotyped pattern documented in other vertebrates.

  2. Genetic, chromosomal, and syndromic causes of neural tube defects

    PubMed Central

    Seidahmed, Mohammed Z.; Abdelbasit, Omer B.; Shaheed, Meeralebbae M.; Alhussein, Khalid A.; Miqdad, Abeer M.; Samadi, Abdulmohsen S.; Khalil, Mohammed I.; Al-Mardawi, Elham; Salih, Mustafa A.

    2014-01-01

    Objective: To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes. Methods: We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital, Riyadh, Saudi Arabia. The cases were ascertained by a perinatologist, neonatologist, geneticist, radiologist, and neurologist. The literature was reviewed via a MEDLINE search. Only liveborn babies were included. Permission from the Educational Committee at the Security Forces Hospital was obtained prior to the collection of data. Results: Out of 103 infants with NTDs admitted during this period, 20 (19.4%) were found to have an underlying genetic syndromic, chromosomal and/or other anomalies. There were 5 cases of Meckel-Gruber syndrome, 2 Joubert syndrome, one Waardenburg syndrome, one Walker-Warburg syndrome, 2 chromosomal disorders, 2 caudal regression, one amniotic band disruption sequence, one associated with omphalocele, one with diaphragmatic hernia, and 4 with multiple congenital anomalies. Conclusions: There is a high rate of underlying genetic syndromic and/or chromosomal causes of NTDs in the Saudi Arabian population due to the high consanguinity rate. Identification of such association can lead to more accurate provisions of genetic counseling to the family including preimplantation genetic diagnosis or early termination of pregnancies associated with lethal conditions. PMID:25551112

  3. Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome.

    PubMed

    Seaver, L H; Joffe, L; Spark, R P; Smith, B L; Hoyme, H E

    1993-04-15

    An apparently autosomal recessive syndrome of hereditary vitreoretinal degeneration (VRD) with retinal detachment, high myopia, and congenital encephalocele was described in 1971 by Knobloch and Layer [J Pediatr Ophthalmol 8:181-184]. Clinical confirmation of the presence of encephaloceles was lacking, and no neuropathologic studies were reported. We have evaluated a similarly affected family with 2 sibs with high myopia, VRD, and occipital scalp defects. Histologic examination of the scalp defects showed heterotopic neuronal tissue in both instances. The older girl has had a unilateral retinal detachment. Her other eye and both eyes of the younger sib have so far been treated successfully with prophylactic retinal cryotherapy. Both children have normal to above normal intelligence. The family reported by Knobloch and Layer [1971] and the sibship herein described appear to represent a distinct autosomal recessive trait. Analysis of the associated defects suggests an underlying defect in early cephalic neuroectodermal morphogenesis. Data from these families imply that congenital occipital scalp defects rather than true encephaloceles may, as is true in some cases of Meckel syndrome, accompany Knobloch syndrome. The presence of a congenital midline scalp defect should alert the clinician to possible underlying central nervous system and/or ocular pathology and should lead to consideration of further diagnostic evaluations and prophylactic measures.

  4. Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus.

    PubMed

    Abumansour, Iman S; Al Sulmi, Eman; Chodirker, Bernard N; Hunt, Jennifer C

    2015-10-01

    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.

  5. 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.

  6. 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

  7. [An error in the Reichert-Gaupp theory. A contribution to onto- and phylogenesis of the temporomandibular joint and ear ossicles in mammals].

    PubMed

    Otto, H D

    1984-01-01

    The theory of Reichert- Gaupp is refuted by A) new embryological, B) some teratological and C) a new morphological and functional interpretation of palaeontological findings: A) Before the formation of the chondrocranium the still fibrous anlagen of the Meckel's cartilage and of the hyoidal (!) malleus-incus-complex are still sharply outlined each against other. The hyomandibular boundary between them is yet distinctly visible. B) In the malformations being reconducted to an arrest of development the malleus-incus-complex regularly shares the fate of the outer ear (II. visceral arch) but never the destiny of the face (I. visceral arch). The ossicle-chain is not only a functional but also an ontogenetic unit and consequently also a phylogenetic unit. C) The phylogenetic changes of the temporomandibulary joint (tmj) of the Therapsida result by steps out of autochthon (!) structures. The functional background is discussed. We see the articulare as homologue to the processus condylaris and the quadratum to the articular disk. The phylogenetic older quadrato -articular hinge-joint is preserved in the inferior part and the phylogenetic younger quadrato - squamosal slide-joint, which in the human embryo also develops 2 weeks later than the first, is situated superior to the ginglymus . Thus the Mammals have 2 tmj on each side but no squamoso -dental joint.

  8. Appendix stump closure with endoloop in laparoscopic appendectomy.

    PubMed

    Caglià, Pietro; Tracia, Angelo; Spataro, Daniele; Borzì, Laura; Lucifora, Bibiana; Tracia, Luciano; Amodeo, Corrado

    2014-01-01

    L’appendicite acuta rappresenta la più comune patologia infiammatoria della cavità adddominale. Mc Burney ne ha per primo descritto il trattamento chirurgico utilizzando la classica incisione nel quadrante addominale inferiore destro. Tale approccio è stato considerato il trattamento standard della patologia appendicolare per più di un secolo, fino all’inizio dell’era video laparoscopica. I rapidi cambiamenti tecnici e gli innegabili vantaggi della procedura videolaparoscopica ha portato ad una ampia diffusione della metodica in ambito clinico. La chiusura del moncone appendicolare, durante l’appendicectomia video laparoscopica, rappresenta uno degli aspetti tecnici fondamentali della procedura per le gravi potenziali complicanze che possono derivare da un suo non appropriato trattamento. Gravi complicanze sono infatti rappresentate da deiscenza, fistole stercoracee e peritonite. La chiusura con endostapler, hem-o-look e legatura intracorporea rappresentano le metodiche più comunemente utilizzate. Tutte le alternative descritte presentano vantaggi e svantaggi e vanno rapportate ai diversi stadi clinici della patologia appendicolare. Va inoltre notato che le differenti metodiche di trattamento del moncone appendicolare non sono state testate in studi randomizzati. In base alla nostra esperienza si può affermare che il trattamento del moncone appendicolare con endoloop può essere utilizzato con sicurezza e dovrebbe essere considerata la metodica di scelta anche in relazione al rapporto costo-beneficio. Metodi alternativi di chiusura del moncone appendicolare andrebbero utilizzati in caso di appendicite flemmonosa o gangrenosa, ascesso peritiflitico e/o contemporaneo trattamento di diverticolo di Meckel.

  9. Metastatic Mantle Cell Lymphoma to the Pituitary Gland: Case Report and Literature Review.

    PubMed

    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.

  10. Expanding CEP290 mutational spectrum in ciliopathies.

    PubMed

    Travaglini, Lorena; Brancati, Francesco; Attie-Bitach, Tania; Audollent, Sophie; Bertini, Enrico; Kaplan, Josseline; Perrault, Isabelle; Iannicelli, Miriam; Mancuso, Brunella; Rigoli, Luciana; Rozet, Jean-Michel; Swistun, Dominika; Tolentino, Jerlyn; Dallapiccola, Bruno; Gleeson, Joseph G; Valente, Enza Maria; Zankl, A; Leventer, R; Grattan-Smith, P; Janecke, A; D'Hooghe, M; Sznajer, Y; Van Coster, R; Demerleir, L; Dias, K; Moco, C; Moreira, A; Kim, C Ae; Maegawa, G; Petkovic, D; Abdel-Salam, G M H; Abdel-Aleem, A; Zaki, M S; Marti, I; Quijano-Roy, S; Sigaudy, S; de Lonlay, P; Romano, S; Touraine, R; Koenig, M; Lagier-Tourenne, C; Messer, J; Collignon, P; Wolf, N; Philippi, H; Kitsiou Tzeli, S; Halldorsson, S; Johannsdottir, J; Ludvigsson, P; Phadke, S R; Udani, V; Stuart, B; Magee, A; Lev, D; Michelson, M; Ben-Zeev, B; Fischetto, R; Benedicenti, F; Stanzial, F; Borgatti, R; Accorsi, P; Battaglia, S; Fazzi, E; Giordano, L; Pinelli, L; Boccone, L; Bigoni, S; Ferlini, A; Donati, M A; Caridi, G; Divizia, M T; Faravelli, F; Ghiggeri, G; Pessagno, A; Briguglio, M; Briuglia, S; Salpietro, C D; Tortorella, G; Adami, A; Castorina, P; Lalatta, F; Marra, G; Riva, D; Scelsa, B; Spaccini, L; Uziel, G; Del Giudice, E; Laverda, A M; Ludwig, K; Permunian, A; Suppiej, A; Signorini, S; Uggetti, C; Battini, R; Di Giacomo, M; Cilio, M R; Di Sabato, M L; Leuzzi, V; Parisi, P; Pollazzon, M; Silengo, M; De Vescovi, R; Greco, D; Romano, C; Cazzagon, M; Simonati, A; Al-Tawari, A A; Bastaki, L; Mégarbané, A; Sabolic Avramovska, V; de Jong, M M; Stromme, P; Koul, R; Rajab, A; Azam, M; Barbot, C; Martorell Sampol, L; Rodriguez, B; Pascual-Castroviejo, I; Teber, S; Anlar, B; Comu, S; Karaca, E; Kayserili, H; Yüksel, A; Akcakus, M; Al Gazali, L; Sztriha, L; Nicholl, D; Woods, C G; Bennett, C; Hurst, J; Sheridan, E; Barnicoat, A; Hennekam, R; Lees, M; Blair, E; Bernes, S; Sanchez, H; Clark, A E; DeMarco, E; Donahue, C; Sherr, E; Hahn, J; Sanger, T D; Gallager, T E; Dobyns, W B; Daugherty, C; Krishnamoorthy, K S; Sarco, D; Walsh, C A; McKanna, T; Milisa, J; Chung, W K; De Vivo, D C; Raynes, H; Schubert, R; Seward, A; Brooks, D G; Goldstein, A; Caldwell, J; Finsecke, E; Maria, B L; Holden, K; Cruse, R P; Swoboda, K J; Viskochil, D

    2009-10-01

    Ciliopathies are an expanding group of rare conditions characterized by multiorgan involvement, that are caused by mutations in genes encoding for proteins of the primary cilium or its apparatus. Among these genes, CEP290 bears an intriguing allelic spectrum, being commonly mutated in Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS), Senior-Loken syndrome and isolated Leber congenital amaurosis (LCA). Although these conditions are recessively inherited, in a subset of patients only one CEP290 mutation could be detected. To assess whether genomic rearrangements involving the CEP290 gene could represent a possible mutational mechanism in these cases, exon dosage analysis on genomic DNA was performed in two groups of CEP290 heterozygous patients, including five JSRD/MKS cases and four LCA, respectively. In one JSRD patient, we identified a large heterozygous deletion encompassing CEP290 C-terminus that resulted in marked reduction of mRNA expression. No copy number alterations were identified in the remaining probands. The present work expands the CEP290 genotypic spectrum to include multiexon deletions. Although this mechanism does not appear to be frequent, screening for genomic rearrangements should be considered in patients in whom a single CEP290 mutated allele was identified.

  11. Expanding CEP290 mutational spectrum in ciliopathies

    PubMed Central

    Travaglini, Lorena; Brancati, Francesco; Attie-Bitach, Tania; Audollent, Sophie; Bertini, Enrico; Kaplan, Josseline; Perrault, Isabelle; Iannicelli, Miriam; Mancuso, Brunella; Rigoli, Luciana; Rozet, Jean-Michel; Swistun, Dominika; Tolentino, Jerlyn; Dallapiccola, Bruno; Gleeson, Joseph G.; Valente, Enza Maria

    2015-01-01

    Ciliopathies are an expanding group of rare conditions characterised by multiorgan involvement, that are caused by mutations in genes encoding for proteins of the primary cilium or its apparatus. Among these genes, CEP290 bears an intriguing allelic spectrum, being commonly mutated in Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS), Senior-Loken syndrome and isolated Leber congenital amaurosis (LCA). Although these conditions are recessively inherited, in a subset of patients only one CEP290 mutation could be detected. To assess whether genomic rearrangements involving the CEP290 gene could represent a possible mutational mechanism in these cases, exon dosage analysis on genomic DNA was performed in two groups of CEP290 heterozygous patients, including five JSRD/MKS cases and four LCA, respectively. In one JSRD patient, we identified a large heterozygous deletion encompassing CEP290 C-terminus, that resulted in marked reduction of mRNA expression. No copy number alterations were identified in the remaining probands. The present work expands the CEP290 genotypic spectrum to include multiexon deletions. Although this mechanism does not appear to be frequent, screening for genomic rearrangements should be considered in patients in whom a single CEP290 mutated allele was identified. PMID:19764032

  12. The slice culture method for following development of tooth germs in explant culture.

    PubMed

    Alfaqeeh, Sarah A; Tucker, Abigail S

    2013-11-13

    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.

  13. 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.

  14. Incidence and morphology of the brachioradialis accessorius muscle

    PubMed Central

    RODRÍGUEZ-NIEDENFÜHR, M.; VÁZQUEZ, T.; PARKIN, I.; NEARN, L.; SAÑUDO, J. R.

    2001-01-01

    A separate supernumerary muscle in the lateral cubital fossa originating from the humerus or brachioradialis and inserting into the radius, pronator teres or supinator muscle has been considered as a variation of the brachioradialis muscle (Dawson, 1822; Meckel, 1823; Lauth, 1830; Halbertsma, 1864; Gruber, 1868b; Testut, 1884; LeDouble, 1897; Spinner & Spinner, 1996). However, a similar description was used to report additional heads of the brachialis or biceps brachii muscles (Gruber, 1848; Wood, 1864, 1868; Macalister, 1864–66, 1966–69, 1875; Gruber, 1868a; Wolff-Heidegger, 1937). The innervation of these variant muscles would be a good tool to assign each variation to its associated muscle. Consequently, innervation by the radial nerve would indicate that it is a derivative of the humero–radialis group of muscles, while innervation by the musculocutaneous nerve would support it as a derivative of the anterior musculature of the arm (Rolleston, 1887; Lewis, 1989). However, no references to the innervation were found in the available literature. Therefore this study set out to establish the phylogenetic origin of the brachioradialis accessorius muscle and, with the help of its innervation, to determine its incidence and unreported detailed morphology. PMID:11554514

  15. Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects.

    PubMed

    Logan, Clare V; Abdel-Hamed, Zakia; Johnson, Colin A

    2011-02-01

    Meckel-Gruber syndrome (MKS) is a severe autosomal recessively inherited disorder characterized by developmental defects of the central nervous system that comprise neural tube defects that most commonly present as occipital encephalocele. MKS is considered to be the most common syndromic form of neural tube defect. MKS is genetically heterogeneous with six known disease genes: MKS1, MKS2/TMEM216, MKS3/TMEM67, RPGRIP1L, CEP290, and CC2D2A with the encoded proteins all implicated in the correct function of primary cilia. Primary cilia are microtubule-based organelles that project from the apical surface of most epithelial cell types. Recent progress has implicated the involvement of cilia in the Wnt and Shh signaling pathways and has led to an understanding of their role in normal mammalian neurodevelopment. The aim of this review is to provide an overview of the molecular genetics of the human disorder, and to assess recent insights into the etiology and molecular cell biology of severe ciliopathies from mammalian animal models of MKS.

  16. 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.

  17. 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.

  18. A new eutriconodont mammal and evolutionary development in early mammals.

    PubMed

    Luo, Zhe-Xi; Chen, Peiji; Li, Gang; Chen, Meng

    2007-03-15

    Detachment of the three tiny middle ear bones from the reptilian mandible is an important innovation of modern mammals. Here we describe a Mesozoic eutriconodont nested within crown mammals that clearly illustrates this transition: the middle ear bones are connected to the mandible via an ossified Meckel's cartilage. The connected ear and jaw structure is similar to the embryonic pattern in modern monotremes (egg-laying mammals) and placental mammals, but is a paedomorphic feature retained in the adult, unlike in monotreme and placental adults. This suggests that reversal to (or retention of) this premammalian ancestral condition is correlated with different developmental timing (heterochrony) in eutriconodonts. This new eutriconodont adds to the evidence of homoplasy of vertebral characters in the thoraco-lumbar transition and unfused lumbar ribs among early mammals. This is similar to the effect of homeobox gene patterning of vertebrae in modern mammals, making it plausible to extrapolate the effects of Hox gene patterning to account for homoplastic evolution of vertebral characters in early mammals.

  19. The buccinator muscle: an original morphogenetical study.

    PubMed

    Plas, E; Deliac, P; Garuet Lempirou, A; Caix, P; Bioulac, B

    2004-04-01

    The buccinator muscle, a cutaneous muscle derived from the second arc, is innervated by the facial nerve. It is made of 3 bundles extended into the cheek, from the pterygo-mandibular ligament to the modiolus. It is used for diverse buccal functions. This study attempts to give a better insight of the embryogenesis and the development of the muscle. After taking samples by microdissection under binocular microscope, of this region of embryos and foeti, we performed histological sections. They were then coloured by Masson's trichome for their observation under photon microscopy. From seventieth week we observed the presence of a peri-mucous mesenchyma between the cartilaginous condensation of the "pre premier arc" and Meckel's cartilage. The buccinator presents an insertion on the modiolus, sliding under the latter it runs forwards, it is at the origin of the formation of the orbicularis internus of the lips (musculus orbicularis oris). This muscle displaces its posterior insertion downwards, with the development of the face in the child and the adolescent, notably with the modification in vertical dimension due to the arrival of the deciduous teeth before the permanent dentition. Furthermore it appears that buccinator does not play a role as a sphincter in the secretion of the parotid glands.

  20. [The anatomy of Johann Samuel Eduard d'Alton (1803-1854)--his life and work in Halle (Saale)].

    PubMed

    Zwiener, Sabine; Göbbel, Luminita; Schultka, Rüdiger

    2002-11-01

    After the death of Johann Friedrich Meckel (1781-1833), Eduard d'Alton was appointed to be his successor. From 1834 to 1854, he was Professor of Anatomy and head of the "Anatomisches Theater" at the University of Halle. In the literature we can only find little details about him. The aim is to investigate his life and work. Before he came to Halle, he was first professor at the Academy of Arts in Berlin. Then few years later he received the professorship of anatomy and physiology at the Friedrich-Wilhelm-University in Berlin. During his work as anatomist and physiologist in Halle he was rector twice, in 1845 and 1846. d'Alton worked very accurately and highly engaged. He supported the students' education very conscientiously but, since he was strict and exacting at the same time, he was not very popular. His extraordinary drawings of human and comparative anatomy earned him great recognition. In 1850, he published the "Handbuch der menschlichen Anatomie". d'Alton was mainly engaged in comparative anatomy, embryology and teratology and performed experimental embryological tests. In 1853, he published a catalogue of teratological preparations many of which can still be found in the Anatomical Collections in Halle.

  1. Cavernous hemangioma of the dura mater mimicking meningioma

    PubMed Central

    Di Vitantonio, Hambra; De Paulis, Danilo; Ricci, Alessandro; Marzi, Sara; Dehcordi, Soheila Raysi; Galzio, Renato Juan

    2015-01-01

    Background: Cavernomas are benign lesions that most commonly occur intra-parenchymally, but occasionally they have been described as arising from the dura mater. Extra-axial cavernous angiomas (or hemangiomas) account for 0.4–2% of all intracranial vascular malformations, and they usually occur in the middle cranial fossa, associated with the cavernous sinus. Other possible localizations (e.g. tentorium, convexity, anterior cranial fossa, cerebellopontine angle, Meckel's cave, sella turcica and internal auditory meatus) are rare, and they account only for 0.2–0.5%. Case Description: We report a case of a 30-year-old female presenting with a 2 years history of headache unresponsive to drug therapy. The magnetic resonance imaging showed a dural-based lesion in the left frontal region; the lesion size was: 1.5 cm × 3.5 cm. The appearance suggested a convexity meningioma. A left frontal craniotomy was performed, and the histopathological diagnosis deposed for a cavernous hemangioma of the dura mater. The follow-up at 1-year was good without any neurologic deficit. Conclusions: Dural-based cavernous hemangiomas of the convexity are uncommon lesions. Up to now, only 13 cases have been described in the literature. The authors have discussed clinical aspects, radiological features, surgical treatment, and operative findings. PMID:26421218

  2. 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

  3. 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.

  4. Evaluation of cardiovascular anomalies in patients with asymptomatic turner syndrome using multidetector computed tomography.

    PubMed

    Lee, Sun Hee; Jung, Ji Mi; Song, Min Seob; Choi, Seok jin; Chung, Woo Yeong

    2013-08-01

    Turner syndrome is well known to be associated with significant cardiovascular abnormalities. This paper studied the incidence of cardiovascular abnormalities in asymptomatic adolescent patients with Turner syndrome using multidetector computed tomography (MDCT) instead of echocardiography. Twenty subjects diagnosed with Turner syndrome who had no cardiac symptoms were included. Blood pressure and electrocardiography (ECG) was checked. Cardiovascular abnormalities were checked by MDCT. According to the ECG results, 11 had a prolonged QTc interval, 5 had a posterior fascicular block, 3 had a ventricular conduction disorder. MDCT revealed vascular abnormalities in 13 patients (65%). Three patients had an aberrant right subclavian artery, 2 had dilatation of left subclavian artery, and others had an aortic root dilatation, aortic diverticulum, and abnormal left vertebral artery. As for venous abnormalities, 3 patients had partial anomalous pulmonary venous return and 2 had a persistent left superior vena cava. This study found cardiovascular abnormalities in 65% of asymptomatic Turner syndrome patients using MDCT. Even though, there are no cardiac symptoms in Turner syndrome patients, a complete evaluation of the heart with echocardiography or MDCT at transition period to adults must be performed.

  5. Spastic paraparesis as a complication of percutaneous nephrolithothripsy (PNL) on a calyceal calculus of the left kidney.

    PubMed

    Pellegrinelli, Moira; Castiglioni, Claudia; Morini, Osvaldo; Franzini, Aldo

    2007-12-01

    A patient developed spastic paraparesis after surgery with ultrasound lithothripsy and litholapaxy of fragments of a renal calyceal calculus in middle-upper diverticulum. It was first assumed that the event could be due to transient spinal ischemia, caused by vasospasm of Adamkiewicz artery, secondary to blood engorgement of the area around the vessel. In order to clarify possible implications of medical liability, the Authors took into account the etio-pathogenetic mechanisms of the complication and analyzed the medico-legal aspects, with particular reference to the indication for surgery, which was not absolute in the case under scrutiny. In connection with the latter aspect, the Authors considered the conclusions of a recent sentence of the Court of Milan, whereby, despite the negative opinion of the experts specifically appointed, a case of medical liability was identified as a consequence of algodystrophy resulting from a cardiosurgical intervention. According to the Court, it is for the medical staff to demonstrate that they did all they could to prevent the complication and that such complication did not arise from a mistake on their part.

  6. 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.

  7. Outcomes of urethral calculi patients in an endemic region and an undiagnosed primary fossa navicularis calculus.

    PubMed

    Verit, Ayhan; Savas, Murat; Ciftci, Halil; Unal, Dogan; Yeni, Ercan; Kaya, Mete

    2006-02-01

    Urethral calculus is a rare form of urolithiasis with an incidence lower than 0.3%. We determined the outcomes of 15 patients with urethral stone, of which 8 were pediatric, including an undiagnosed primary fossa navicularis calculus. Fifteen consecutive male patients, of whom eight were children, with urethral calculi were assessed between 2000 and 2005 with a mean of 19 months' follow-up. All stones were fusiform in shape and solitary. Acute urinary retention, interrupted or weak stream, pain (penile, urethral, perineal) and gross hematuria were the main presenting symptoms in 7 (46.7%), 4 (26.7%), 3 (20%) and 1 (6.6%) patient, respectively. Six of them had accompanying urethral pathologies such as stenosis (primary or with hypospadias) and diverticulum. Two patients were associated with upper urinary tract calculi but none of them secondary to bladder calculi. A 50-year-old patient with a primary urethral stone disease had urethral meatal stenosis accompanied by lifelong lower urinary tract symptoms. Unlike the past reports, urethral stones secondary to bladder calculi were decreasing, especially in the pediatric population. However, the pediatric patients in their first decade are still under risk secondary to the upper urinary tract calculi or the primary ones.

  8. Diverticulectomy in the Management of Intradiverticular Bladder Tumors: A Twelve-Year Experience at a Single Institution.

    PubMed

    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.

  9. 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

  10. Aerococcus urinae, a cause of cystitis with malodorous urine in a child: clinical and microbiological challenges

    PubMed Central

    Papaparaskevas, Josef; Konstantinou, Dimitrios; Kapolou, Eleni; Falagas, Mathhew E.; Legakis, Nicholas

    2017-01-01

    Introduction. An infection of the lower urinary tract associated with an extremely unpleasant odour due to Aerococcus urinae in an otherwise healthy 5-year-old boy is described herein. Case presentation. Interestingly, imaging examination revealed the presence of a bladder diverticulum. Routine microbiological examination based on Gram staining, colony morphology and catalase reactivity suggested that the responsible pathogen could belong either to staphylococci, α-haemolytic streptococci or enterococci, which are more common urine isolates. Of note is that the VITEK 2 automated system could not identify the micro-organism. Susceptibility testing showed full sensitivity to β-lactam antibiotics and resistance to trimethoprim/sulfamethoxazole. The isolate was subjected to 16S rRNA gene sequence analysis because of its unusual characteristics. It was identified as A. urinae and the sequence was deposited in GenBank under the accession number KU207150. Conclusion. A. urinae should be considered as a causative agent of urinary-tract infection associated with malodorous urine. PMID:28348806

  11. Multiple congenital genitourinary anomalies in a polled goat.

    PubMed

    King, William W; Young, Melvin E; Fox, M Eugene

    2002-09-01

    A 1-day-old, Toggenburg/Nubian crossbred goat of polled parentage was referred for necropsy because of a large (diameter, 5 cm) bladder-like mass protruding from the perineal midline and difficult urination. Differential diagnoses included cutaneous cyst, ectopic urinary bladder, and urethral diverticulum/dilatation. Several genitourinary aberrations were noted. A second, smaller (diameter, 1 cm), more distal cystic structure was adjacent to an ambiguous prepuce. Testicles were discovered within a constricted, subcutaneous space near the inguinal canals. A rudimentary penis was located dorsal to the penile urethra with no appreciable urethral process. A tiny external urethral orifice was discerned only after liquid was injected into the lumen of the cystic structures, confirming their identity as urethral dilatations. The dilatations were separated by a constricting band of fibrous tissue. No other significant findings were detected. This case illustrates a combination of congenital anomalies including bilateral cryptorchidism with scrotal absence, segmental urethral hypoplasia, and urethral dilatation, most likely associated with the intersex condition seen in polled breeds. The continued production and use of small ruminants as animal models demands the prompt recognition of congenital anomalies. This case also exemplifies the precautions required when breeding goats with polled ancestry.

  12. Laparoscopic assisted anorectal pull through: Reformed techniques

    PubMed Central

    Bhandary, Karthik S.; Kumaran, V.; Rajamani, G.; Kannan, S.; Mohan, N. Venkatesa; Rangarajan, R.; Muthulingam, V.

    2009-01-01

    Aim: To assess the modifications in the technique of laparoscopic assisted anorectal pull through (LAARP) practiced at our institute and analyze the post operative outcome and associated complications. Materials and Methods: A retrospective study from January 2001 to May 2009 analyzing LAARP for high anorectal malformations. Results: A total of 40 patients - 34 males and six females, in the age group of two months to six years were studied. Staged procedure was done in 39 patients; one child with recto vestibular fistula underwent single stage procedure. All the patients withstood surgery well. One patient required conversion due to problems in gaining enough length for the distal rectum in a patient with rectovesical fistula so colostomy was closed and re-located at a proximal splenic flexure. The complications were mucosal prolapse (six cases), anal stenosis (three), adhesive obstruction (two), distal rectal necrosis (one), and urethral diverticulum (one). The patients were followed up with clinical evaluation and continence scoring. The progress has been satisfactory and weight-gain is adequate. Conclusions: The advantages of the reformed techniques are as follows: Transcutaneous bladder stitch provides excellent visualization; traction over the fistula helps in dissection of the puborectalis, dividing the fistula without ligation is safe, railroading of Hegar's dilators over the suction canula creates adequate pull through channel, saves time and makes procedure simpler with reproducible comparable reports. PMID:20419023

  13. Intramesocolic diverticular perforation of the sigmoid colon diagnosed by detecting air collection in anterior pararenal space on computed tomography: report of a case.

    PubMed

    Ashizawa, Tatsuto; Hama, Koichiro; Tanaka, Hiroaki; Ando, Masayuki

    2007-10-01

    A 64-year-old woman was admitted to our hospital with lower abdominal pain. Routine laboratory values were unremarkable except for the white blood cell count (15,000/micro litter) and the C-reactive protein (CRP) value (22.5 mg/dl). A Computed tomography (CT) scan revealed air collection in the middle of the anterior pararenal space. One day later, CT revealed air collection in the anterior pararenal space spread to the right side and abscess in the sigmoid mesentery. Because an intramesocolic perforation of the sigmoid colon was suspected, an emergency operation was performed. Abscess formation was recognized in the sigmoid mesentery, and sigmoidectomy including the contaminated mesentery and Hartmann.s procedure were performed. The perforation was 3 cm in diameter, and some diverticula were present in the vicinity of the perforated site. The specimen microscopically revealed perforation at the edge of the diverticulum in association with sudden disruption of the proper muscle layer. Based on pathological findings, intramesocolic diverticular perforation of the sigmoid colon was diagnosed. The present case is a very rare condition. However, it was possible to make a diagnosis preoperatively by detecting air collection in the anterior pararenal space on CT scan. If a sigmoid perforation occurs between the leaves of the mesocolon, air extends into the root of the sigmoid mesocolon and within the anterior pararenal space.

  14. 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.

  15. Detection of sapoviruses and noroviruses in an outbreak of gastroenteritis linked genetically to shellfish.

    PubMed

    Iizuka, Setsuko; Oka, Tomoichiro; Tabara, Kenji; Omura, Tamaki; Katayama, Kazuhiko; Takeda, Naokazu; Noda, Mamoru

    2010-07-01

    Norovirus (NoV) and sapovirus (SaV) are important pathogens of human gastroenteritis. Compared to NoV, the transmission route of SaV is unclear. An outbreak of gastroenteritis occurred at a restaurant in June 2008, and SaV and NoV were detected in fecal specimens from 17 people who ate at the restaurant and one asymptomatic food handler and also in stripped shellfish and liquids remaining in the shellfish packages by reverse transcription-polymerase chain reaction (RT-PCR) and/or real-time RT-PCR. Nucleotide sequencing analysis of the RT-PCR products corresponding to the partial capsid region revealed 99.3-100% identities for SaV and 98.6-99.3% identities for NoV among the digestive diverticulum of the frozen stripped shellfish (Ruditapes philippinarum), "Asari," the package liquid, and feces from symptomatic or asymptomatic guests. These results suggested a link between the consumption of contaminated shellfish and clinical features in the patients. While the transmission of NoV by shellfish has been reported, this report shows that SaV can also be transmitted by shellfish.

  16. Characteristics of Small Intestinal Diseases on Single-Balloon Enteroscopy

    PubMed Central

    Tao, Zhang; Liu, G.X.; Cai, L.; Yu, H.; Min, X.J.; Gan, H.T.; Yang, K.; SQ, Li; Yan, J.; Chen, L.; Tan, Q.H.; Wu, J.C.; Huang, X.L.

    2015-01-01

    Abstract The small intestine has been considered inaccessible for a long term. The development of single-balloon endoscopy has greatly improved the diagnosis and treatment possibilities for small intestinal diseases. In this study, we aimed to explore the demographic characteristics and small intestinal diseases of patients who underwent single-balloon enteroscopy between 2009 and 2014 at our endoscopy center. We determined the enteroscopic findings for each small intestinal disease and the most susceptible age groups. In total, 186 patients were included in the study. Their mean age was 45.87 ± 15.77 years. Patients who underwent single-balloon enteroscopy were found to have neoplasms (most common age group: 14–45 years, most common lesion location: jejunum), lymphoma (46–59 and 60–74 years, ileum), protuberant lesions (45–59 years, jejunum), inflammation (14–45 and 46–59 years, ileum), benign ulcers (14–45 years, jejunum), diverticulum (14–45 years, ileum), vascular malformations (60–74 years, jejunum), polyps (14–45 years, jejunum), Crohn's disease (14–45 years, jejunum), hookworm infection (14–45 years, jejunum), lipid pigmentation (14–45 and 46–59 years, jejunum), undetermined bleeding (46–59 years, ileum), or undetermined stenosis (31 years, duodenum). Each small intestinal disease had distinct enteroscopic findings. PMID:26496270

  17. 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

  18. 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

  19. Waugh’s Syndrome: Blessing in Disguise

    PubMed Central

    Mohanty, Subrat K

    2014-01-01

    Waugh’s syndrome is the association between intestinal malrotion and intussusceptions. We report a case of Waugh’s syndrome in a one year old child who presented to us with acute bowel obstruction and bleeding per rectum. Due to malrotation, there was easy prolapsing of ileocolic region into the nonfixed ascending colon and the intussusceptum advanced into the descending colon and rectum without compromising vascularity of the bowel. In most of the cases the intussusceptum advancing into the rectum is associated with bowel gangrene even when ceacum is mobile. But in our case, mobile caecum with malrotation proved to be blessing in disguise in preventing such a complication. A Meckel’s diverticulum was also an incidental finding in this case. Waugh's syndrome is missed in cases of close reduction of intussusception and may be a reason for recurrence. Though a rare entity, the probability of Waugh’s syndrome should be kept in mind during surgery, during hydrostatic reduction of intussusceptions, and in case of recurrent ileocolic intussusceptions. PMID:25478404

  20. [Phylogenetic analysis and expression patterns of tropomyosin in amphioxus].

    PubMed

    Li, Xin-Yi; Lin, Yu-Shuang; Zhang, Hong-Wei

    2012-08-01

    In amphioxus, we found a mesoderm related gene, tropomyosin, which encodes a protein comprising 284 amino acid residues, sharing high identities with other known Tropomyosin proteins both in vertebrates and invertebrates. Phylogenetically, amphioxus Tropomyosin fell outside the invertebrate clade and was at the base of the vertebrate protein family clade, indicating that it may represent an independent branch. From the early neurula to the larva stage, whole-mount in situ hybridization and histological sections found transcripts of amphioxus tropomyosin gene. Weak tropomyosin expression was first detected in the wall of the archenteron at about 10 hours-post-fertilization neurula stage, while intense expression was revealed in the differentiating presumptive notochord and the muscle. Transcripts of tropomyosin were then expressed in the formed notochord and somites. Gene expression seemed to continue in these developing organs throughout the neurular stages and remained till 72-hours, during the early larval stages. In situ study still showed tropomyosin was also expressed in the neural tube, hepatic diverticulum, notochord and the spaces between myotomes in adult amphioxus. Our results indicated that tropomyosin may play an important role in both embryonic development and adult life.

  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.

  2. Jejunal Diverticulosis Presented with Acute Abdomen and Diverticulitis Complication: A Case Report

    PubMed Central

    Fidan, Nurdan; Mermi, Esra Ummuhan; Acay, Mehtap Beker; Murat, Muammer; Zobaci, Ethem

    2015-01-01

    Summary Background Jejunal diverticulosis is a rare, usually asymptomatic disease. Its incidence increases with age. If symptomatic, diverticulosis may cause life-threatening acute complications such as diverticulitis, perforation, intestinal hemorrhage and obstruction. In this report, we aimed to present a 67-year-old male patient with jejunal diverticulitis accompanying with abdominal pain and vomiting. Case Report A 67-year-old male patient complaining of epigastric pain for a week and nausea and fever for a day presented to our emergency department. Ultrasonographic examination in our clinic revealed diverticulum-like images with thickened walls adjacent to the small intestine loops, and increase in the echogenicity of the surrounding mesenteric fat tissue. Contrast-enhanced abdominal computed tomography showed multiple diverticula, thickened walls with showing contrast enhancement and adjacent jejunum in the left middle quadrant, increased density of the surrounding mesenteric fat tissue, and mesenteric lymph nodes. The patient was hospitalized by general surgery department with the diagnosis of jejunal diverticulitis. Conservative intravenous fluid administration and antibiotic therapy were initiated. Clinical symptoms regressed and the patient was discharged from hospital after 2 weeks. Conclusions In cases of diverticulitis it should be kept in mind that in patients with advanced age and pain in the left quadrant of the abdomen, diverticular disease causing mortality and morbidity does not always originate from the colon but might also originate from the jejunum. PMID:26715947

  3. The pattern of a specimen of Pycnogonum litorale (Arthropoda, Pycnogonida) with a supernumerary leg can be explained with the "boundary model" of appendage formation.

    PubMed

    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.

  4. Onset of cell-specific gene expression in the developing mouse pancreas.

    PubMed Central

    Gittes, G K; Rutter, W J

    1992-01-01

    A central question in developmental biology has been the initiation of cell-specific gene expression and its temporal relationship to morphogenesis. We have coupled embryo microdissection with the exquisite sensitivity of the polymerase chain reaction to define the onset of cell-specific gene expression during pancreatic organogenesis. Using the precise assignment of gestational age by the number of somites in each embryo, we determined the onset of transcription of major genes of the endocrine and exocrine pancreas during mouse development to within 2-3 hr. Somatostatin mRNA was detected at the 10-somite stage throughout the foregut, consistent with the presence of somatostatin-producing cells throughout the adult gut. Mature mRNA for insulin and glucagon first appears surprisingly early, at the 20-somite stage in the wall of the embryonic foregut and is restricted to only the area of the duodenum from which the pancreas will arise 10-12 hr later. In contrast, exocrine gene transcription begins 24 hr after formation of the pancreatic diverticulum. Thus cell-specific gene expression in the endocrine pancreas begins in a "pre-morphogenetic phase." This early expression of insulin and glucagon could reflect the initiation of an endocrine cell lineage. Images PMID:1371010

  5. 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.

  6. 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.

  7. 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.

  8. Expression of the amphioxus Pit-1 gene (AmphiPOU1F1/Pit-1) exclusively in the developing preoral organ, a putative homolog of the vertebrate adenohypophysis.

    PubMed

    Candiani, Simona; Holland, Nicholas D; Oliveri, Diana; Parodi, Manuela; Pestarino, Mario

    2008-03-18

    For the Florida amphioxus (Branchiostoma floridae), the full-length sequence and developmental expression of AmphiPOU1F1/Pit-1 are described. This gene, which is present in a single copy in the genome, is homologous to Pit-1 genes of vertebrates that play key roles in the development of the adenohypophysis. During amphioxus development, AmphiPOU1F1/Pit-1 transcripts are limited to Hatschek's left diverticulum and the larval tissue developing from it--namely the concave portion of the preoral organ. No other expression domains for this gene were detected during embryonic and larval development. From data currently available for hemichordates, amphioxus and ascidians, the best supported homologs for the vertebrate adenohypophysis are the preoral ciliary organ of hemichordates, preoral organ/Hatschek's pit of amphioxus and the neural gland/duct complex of ascidians. Better insights into pituitary evolution will require additional information: for invertebrate deuterostomes, more of the key pituitary genes in hemichordates and tunicates need to be studied; for the more basal groups vertebrates, it will be important to determine whether the source of the adenohypophysis is endodermal or ectodermal and to demonstrate what, if any, contribution mesodermal head coeloms might make to the developing pituitary.

  9. Atresia of the Aortic Arch in 4-Year-Old Child: A Clinical Case Study

    PubMed Central

    Nigro Stimato, Vittoria; Didier, Dominique; Beghetti, Maurice; Tissot, Cécile

    2015-01-01

    Atresia of the aortic arch is a rare congenital heart defect with a high mortality when associated with other intracardiac defects. Cardiac magnetic resonance (CMR) provides the exact anatomy of the aortic arch and collateral circulation and is useful to diagnose-associated aortic arch anomalies. This report describes the case of a 4-year-old child with atresia of the aortic arch, referred to our institution with the diagnosis of aortic coarctation and bicuspid aortic valve. On clinical exam, the femoral pulses were not palpable and there was a significant differential blood pressure between the upper and lower limbs. The echocardiography showed a severely stenotic bicuspid aortic valve but was limited for the exact description of the aortic arch. CMR showed absence of lumen continuity between the ascending and descending aorta distal to the left subclavian artery, extending over 5 mm, with the presence of a bend in the arch and diverticulum on either side of the zone of discontinuity, suggesting the diagnosis atresia of the aortic arch rather than coarctation or interruption. The patient benefited from a successful surgical commissurotomy of the aortic valve and reconstruction of the aortic arch with a homograft. The post-operative CMR confirmed the good surgical result. This case emphasizes the utility of CMR to provide good anatomical information to establish the exact diagnosis and the operative strategy. PMID:25853109

  10. The right-sided aortic arch with unusual course of bilateral recurrent laryngeal nerves: a report of rare variations.

    PubMed

    Yan, Jun; Kanazawa, Jun; Numata, Norio; Hitomi, Jiro

    2017-02-01

    We describe a rare case of the right-sided aortic arch, the unusual origin of the main arterial vessels and the unusual courses of bilateral recurrent laryngeal nerves in a Japanese cadaver. Chiefly, the right-sided aortic arch turned to the left side from the dorsal part of the trachea and esophagus, and Kommerell's diverticulum was found at the end of the arch. The right common carotid artery arose from the end part of the ascending aorta, but the left common carotid artery arose from the proximal portion of the ascending aorta. The right subclavian artery arose from the upper edge of the aortic arch, but the left one arose from the front wall at the upper side of the ligamentum arteriosum. The right recurrent laryngeal nerve hooked around the aortic arch (but not the right subclavian artery) dorsoventrally, and the left recurrent laryngeal nerve hooked around the ligamentum arteriosum and arose from the ventral side (but not dorsal) of the aortic arch. These variations are very rare, and understanding them is useful and important for clinical research.

  11. The Olive Fly Endosymbiont, “Candidatus Erwinia dacicola,” Switches from an Intracellular Existence to an Extracellular Existence during Host Insect Development▿ †

    PubMed Central

    Estes, Anne M.; Hearn, David J.; Bronstein, Judith L.; Pierson, Elizabeth A.

    2009-01-01

    As polyphagous, holometabolous insects, tephritid fruit flies (Diptera: Tephritidae) provide a unique habitat for endosymbiotic bacteria, especially those microbes associated with the digestive system. Here we examine the endosymbiont of the olive fly [Bactrocera oleae (Rossi) (Diptera: Tephritidae)], a tephritid of great economic importance. “Candidatus Erwinia dacicola” was found in the digestive systems of all life stages of wild olive flies from the southwestern United States. PCR and microscopy demonstrated that “Ca. Erwinia dacicola” resided intracellularly in the gastric ceca of the larval midgut but extracellularly in the lumen of the foregut and ovipositor diverticulum of adult flies. “Ca. Erwinia dacicola” is one of the few nonpathogenic endosymbionts that transitions between intracellular and extracellular lifestyles during specific stages of the host's life cycle. Another unique feature of the olive fly endosymbiont is that unlike obligate endosymbionts of monophagous insects, “Ca. Erwinia dacicola” has a G+C nucleotide composition similar to those of closely related plant-pathogenic and free-living bacteria. These two characteristics of “Ca. Erwinia dacicola,” the ability to transition between intracellular and extracellular lifestyles and a G+C nucleotide composition similar to those of free-living relatives, may facilitate survival in a changing environment during the development of a polyphagous, holometabolous host. We propose that insect-bacterial symbioses should be classified based on the environment that the host provides to the endosymbiont (the endosymbiont environment). PMID:19767463

  12. 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.

  13. Preliminary results of laser tissue welding in extravesical reimplantation of the ureters

    NASA Astrophysics Data System (ADS)

    Kirsch, Andrew J.; Milton, Daniel T.; Dean, Gregory E.; Oz, Mehmet C.; Libutti, Steven K.; Treat, Michael R.; Nowygrod, Roman; Hensle, Terry W.

    1993-07-01

    One future use of laparoscopic technology is in extravesical reimplantation of the ureters. Technical difficulty arises, however, when intracorporal fine suturing is necessary. We have assessed the efficacy of laser-activated fibrinogen solder to close vesical muscle flaps over submucosal ureters (Lich-Gregoir technique) in a canine model. Four dogs were subjected to unilateral flap closures via a protein solder consisting of indocyanine green and fibrinogen applied to the serosal surface of the bladder and exposed to 808 nm continuous wave diode laser energy. Contralateral reimplantation was performed using 4 - 0 vicryl muscle flap closures and served as controls. Urinary drainage catheters were left in place for 24 hours postoperatively. At 7 (n equals 1), 14 (n equals 2), and 28 (n equals 1) days following reimplantation, intravenous pyelograms confirmed bilateral renal function and ureteral patency. Disruption of wound closures were considered the point of wound dehiscence, vesical diverticulum, or leakage. At intravesical pressures above 100 cm H2O there was no evidence of wound disruption in either of the groups. However, surrounding normal tissue was noted to disrupt. In conclusion, laser-welded vesical wound closures appear at least as strong as suture closures in the canine model.

  14. A Minor Innovation in Constructing a Small Bowel Stoma in Neonates with Small Bowel Atresia to Reduce the Morbidity

    PubMed Central

    Khan, Naeem; Bakht, Saba; Zaheer, Nadia

    2016-01-01

    Background: Intestinal atresia has still significant morbidity in developing countries. Stomas are now not recommended in every case of intestinal atresia; primary anastomosis is the goal of surgery after resection of dilated adynamic gut. A new type of stoma formation along with primary anastomosis is being presented here. Materials and Methods: This report is based on our experience of many cases with this technique in last 12 years but all the details and long follow-up of each case is not available. However the method of surgical procedure, progress, complications, and advantages encountered have been highlighted. Results: Presently we have data of 7 patients; others are lost to follow up. Three had died with other associated problems, namely one with multiple atresias, two with septic shock and prematurity. Two stomas did not require formal closure because stoma shriveled and disappeared. Two other stomas had grown very long like a diverticulum when these were closed after 5 and 8 months. Conclusion: This technique is another attempt to decrease morbidity of patients of intestinal atresia especially in those cases where short bowel syndrome is feared after resection of proximal dilated gut. PMID:27896153

  15. 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

  16. 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

    2014-11-28

    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.

  17. Prevalence and persistence of Taylorella asinigenitalis in male donkeys.

    PubMed

    Donahue, James M; Timoney, Peter J; Carleton, Carla L; Marteniuk, Judy V; Sells, Stephen F; Meade, Barry J

    2012-12-07

    This study was undertaken to investigate the prevalence of Taylorella asinigenitalis in a subset of the donkey population of Michigan and in other equids on farms on which the organism was identified. Other aims were to further characterize the carrier state in terms of persistence and preferred sites of colonization of T. asinigenitalis in the male donkey as well as determine the genotype of any isolates of the organism. Initial testing of 43 donkeys and 1 mule turned up 4 (9.3%) donkeys culture positive for T. asinigenitalis. The 4 culture-positive donkeys resided on 2 farms accommodating a collective total of 89 equids, of which 23 (25.8%) were confirmed positive for T. asinigenitalis. The positive equid population on the 2 farms comprised 14 (67%) of 21 gelded donkeys, 8 (36.4%) of 22 intact male donkeys, and 1 (25%) of 4 gelded horses. T. asinigenitalis was not isolated from 27 female donkeys, 11 female horses, 2 female mules, 1 male horse, or 1 male mule resident on these premises. Isolations of the bacterium were obtained from a number of male donkeys whenever they were sampled over a span of 33 months; preferential sites of isolation were the urethral fossa (fossa glandis), dorsal diverticulum of the urethral sinus, and terminal urethra. Isolates of T. asinigenitalis from the 23 culture-positive equids comprised 2 genotypes, one identical to the type strain isolated in California in 1997, and the other identical to 2 strains isolated from donkey jacks in Kentucky in 1998.

  18. 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

  19. 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.

  20. Homeoprotein hhex-induced conversion of intestinal to ventral pancreatic precursors results in the formation of giant pancreata in Xenopus embryos

    PubMed Central

    Zhao, Hui; Han, Dandan; Dawid, Igor B.; Pieler, Tomas; Chen, Yonglong

    2012-01-01

    Liver and ventral pancreas develop from neighboring territories within the endoderm of gastrulae. ventral pancreatic precursor 1 (vpp1) is a marker gene that is differentially expressed in a cell population within the dorsal endoderm in a pattern partially overlapping with that of hematopoietically expressed homeobox (hhex) during gastrulation. In tail bud embryos, vpp1 expression specifically demarcates two ventral pancreatic buds, whereas hhex expression is mainly restricted to the liver diverticulum. Ectopic expression of a critical dose of hhex led to a greatly enlarged vpp1-positive domain and, subsequently, to the formation of giant ventral pancreata, putatively by conversion of intestinal to ventral pancreatic precursor cells. Conversely, antisense morpholino oligonucleotide-mediated knockdown of hhex resulted in a down-regulation of vpp1 expression and a specific loss of the ventral pancreas. Furthermore, titration of hhex with a dexamethasone-inducible hhex-VP16GR fusion construct suggested that endogenous hhex activity during gastrulation is essential for the formation of ventral pancreatic progenitor cells. These observations suggest that, beyond its role in liver development, hhex controls specification of a vpp1-positive endodermal cell population during gastrulation that is required for the formation of the ventral pancreas. PMID:22592794

  1. The manifestation of vortical and secondary flow in the cerebral venous outflow tract: An in vivo MR velocimetry study.

    PubMed

    Kefayati, Sarah; Amans, Matthew; Faraji, Farshid; Ballweber, Megan; Kao, Evan; Ahn, Sinyeob; Meisel, Karl; Halbach, Van; Saloner, David

    2017-01-04

    Aberrations in flow in the cerebral venous outflow tract (CVOT) have been implicated as the cause of several pathologic conditions including idiopathic intracranial hypertension (IIH), multiple sclerosis (MS), and pulsatile tinnitus (PT). The advent of 4D flow magnetic resonance imaging (4D-flow MRI) has recently allowed researchers to evaluate blood flow patterns in the arterial structures with great success. We utilized similar imaging techniques and found several distinct flow characteristics in the CVOT of subjects with and without lumenal irregularities. We present the flow patterns of 8 out of 38 subjects who have varying heights of the internal jugular bulb and varying lumenal irregularities including stenosis and diverticulum. In the internal jugular vein (IJV) with an elevated jugular bulb (JB), 4Dflow MRI revealed a characteristic spiral flow that was dependent on the level of JB elevation. Vortical flow was also observed in the diverticula of the venous sinuses and IJV. The diversity of flow complexity in the CVOT illustrates the potential importance of hemodynamic investigations in elucidating venous pathologies.

  2. 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.

  3. 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.

  4. 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

  5. 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

  6. Unusual vascular ring anomaly associated with a persistent right aortic arch in two dogs.

    PubMed

    House, A K; Summerfield, N J; German, A J; Noble, P J M; Ibarrola, P; Brockman, D J

    2005-12-01

    An unusual vascular ring anomaly consisting of a persistent right aortic arch and a left ligamentum arteriosum extending from the main pulmonary artery to an aberrant left subclavian artery and left aortic arch remnant complex was identified in a German shepherd dog and a great Dane. The left subclavian artery and left aortic arch remnant complex originated at the junction between the right distal aortic arch and the descending aorta and coursed dorsal to the oesophagus in a cranial direction. The attachment of the ligamentum arteriosum to the aberrant left subclavian artery was approximately 5 cm cranial to the point of origin of the aberrant left subclavian artery and left aortic arch remnant complex from the descending aorta in both dogs. This anomaly observed in both dogs is similar to an anomaly reported in humans, in which a persistent right aortic arch is found in conjunction with an aberrant left subclavian artery and a left aortic arch remnant (Kommerell's diverticulum). Surgical ligation and division of the left ligamentum arteriosum in both dogs, along with division of the left subclavian artery in the great Dane, resulted in resolution of clinical signs in both of the dogs in this report.

  7. Giant Intradiverticular Bladder Tumor

    PubMed Central

    Noh, Mohamad Syafeeq Faeez Md; Aziz, Ahmad Fuad Abdul; Ghani, Khairul Asri Mohd; Siang, Christopher Lee Kheng; Yunus, Rosna; Yusof, Mubarak Mohd

    2017-01-01

    Patient: Male, 74 Final Diagnosis: Giant intradiverticular bladder tumor with metastasis Symptoms: Hematuria Medication:— Clinical Procedure: — Specialty: Urology Objective: Rare disease Background: Intradiverticular bladder tumors are rare. This renders diagnosis of an intradiverticular bladder tumor difficult. Imaging plays a vital role in achieving the diagnosis, and subsequently staging of the disease. Case Report: A 74-year-old male presented to our center with a few months history of constitutional symptoms. Upon further history, he reported hematuria two months prior to presentation, which stopped temporarily, only to recur a few days prior to coming to the hospital. The patient admitted to having lower urinary tract symptoms. However, there was no dysuria, no sandy urine, and no fever. Palpation of his abdomen revealed a vague mass at the suprapubic region, which was non tender. In view of his history and the clinical examination findings, an ultrasound of the abdomen and computed tomography (CT) was arranged. These investigations revealed a giant tumor that seemed to be arising from a bladder diverticulum, with a mass effect and hydronephrosis. He later underwent operative intervention. Conclusions: Intradiverticular bladder tumors may present a challenge to the treating physician in an atypical presentation; thus requiring a high index of suspicion and knowledge of tumor pathophysiology. As illustrated in our case, CT with its wide availability and multiplanar imaging capabilities offers a useful means for diagnosis, disease staging, operative planning, and follow-up. PMID:28246375

  8. Three new Fridericia species (Oligochaeta, Enchytraeidae) from Transylvania, Romania.

    PubMed

    Boros, Gergely; Dózsa-Farkas, Klára

    2015-01-20

    We give descriptions of three new Fridericia species (Enchytraeidae, Oligochaeta) from Transylvania, Romania. Fridericia transylvanica sp. n. is a large-sized worm with a maximum of 4 chaetae per bundle. The spermathecae are separate entally and have two sac-like diverticula bent distad with the ampulla forming a common U-shaped sperm-containing chamber. The species was found not only in the Transylvanian Plateau but also in different regions of the Carpathians in Romania and Serbia. Fridericia gyromonodactyla sp. n. is medium-sized with a maximum of 3 chaetae per bundle. There are only four pairs of preclitellar nephridia. The spermathecal ectal duct is contractile and shorter than the body diameter; each ampulla has only one diverticulum, elongate and coiled, and there is one sessile gland at the orifice. Fridericia longeaurita sp.n. is large-sized with 4(5) chaetae per preclitellar bundle but only two or one in postclitellar bundles. The spermathecal ectal duct is shorter than the body diameter, with one small and sessile ectal gland at the orifice. Each ampulla has two long, ear-shaped, and sac-like diverticula. None of the three species were rare at the sites where they occurred. 

  9. First records of Enchytraeidae (Annelida, Clitellata) from the Three Parallel Rivers region.

    PubMed

    Chen, Jing; Jiang, Wanxiang; Xie, Zhicai

    2016-03-21

    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.

  10. An in situ hybridization study of Runx2, Osterix, and Sox9 in the anlagen of mouse mandibular condylar cartilage in the early stages of embryogenesis.

    PubMed

    Shibata, Shunichi; Yokohama-Tamaki, Tamaki

    2008-09-01

    Mandibular condylar cartilage is the best-studied mammalian secondary cartilage, differing from primary cartilage in that it originates from alkaline phosphatase-positive progenitor cells. We previously demonstrated that three transcription factors related to bone and cartilage formation, namely Runx2, Osterix and Sox9, are simultaneously expressed in the anlage of mandibular condylar cartilage (condylar anlage) at embryonic day (E)14. In this study, expression of these transcription factors was investigated in the anlagen of mandibular bone (mandibular anlagen) from E11.0 to 14.0. Runx2 mRNA was first expressed in the mandibular anlage at E11.5. Osterix mRNA was first expressed at E12.0, and showed a different expression pattern from that of Runx2 from E12.5 to E14.0, confirming that Osterix acts downstream of Runx2. Sox9 mRNA was expressed in Meckel's cartilage and its anlagen throughout the experimental period, but not clearly in the mandibular anlagen until E13.0. At E13.5, the condylar anlage was morphologically identified at the posterior end of the mandibular anlage, and enhanced Sox9 mRNA expression was detected here. At this stage, Runx2 and Osterix mRNA were simultaneously detected in the condylar anlage. These results indicate that the Sox9 mRNA-expressing condylar anlage is derived from Runx2/Osterix mRNA-expressing mandibular anlage, and that upregulation of Sox9 in this region acts as a trigger for subsequent condylar cartilage formation.

  11. prx-1 functions cooperatively with another paired-related homeobox gene, prx-2, to maintain cell fates within the craniofacial mesenchyme.

    PubMed

    Lu, M F; Cheng, H T; Kern, M J; Potter, S S; Tran, B; Diekwisch, T G; Martin, J F

    1999-02-01

    The paired-related homeobox gene, prx-1, is expressed in the postmigratory cranial mesenchyme of all facial prominences and is required for the formation of proximal first arch derivatives. We introduced lacZ into the prx-1 locus to study the developmental fate of cells destined to express prx-1 in the prx-1 mutant background. lacZ was normally expressed in prx-1(neo); prx-1(lacZ )mutant craniofacial mesenchyme up until 11.5 d.p.c. At later time points, lacZ expression was lost from structures that are defective in the prx-1(neo) mutant mice. A related gene, prx-2, demonstrated overlapping expression with prx-1. To test the idea that prx-1 and prx-2 perform redundant functions, we generated prx-1(neo;)prx-2 compound mutant mice. Double mutant mice had novel phenotypes in which the rostral aspect of the mandible was defective, the mandibular incisor arrested as a single, bud-stage tooth germ and Meckel's cartilage was absent. Expression of two markers for tooth development, pax9 and patched, were downregulated. Using a transgene that marks a subset of prx-1-expressing cells in the craniofacial mesenchyme, we showed that cells within the hyoid arch take on the properties of the first branchial arch. These data suggest that prx-1 and prx-2 coordinately regulate gene expression in cells that contribute to the distal aspects of the mandibular arch mesenchyme and that prx-1 and prx-2 play a role in the maintenance of cell fate within the craniofacial mesenchyme.

  12. The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells.

    PubMed

    Romani, Sveva; Illi, Barbara; De Mori, Roberta; Savino, Mauro; Gleeson, Joseph G; Valente, Enza Maria

    2014-01-01

    The dysfunction of the primary cilium, a complex, evolutionarily conserved, organelle playing an important role in sensing and transducing cell signals, is the unifying pathogenetic mechanism of a growing number of diseases collectively termed "ciliopathies", typically characterized by multiorgan involvement. Developmental defects of the central nervous system (CNS) characterize a subset of ciliopathies showing clinical and genetic overlap, such as Joubert syndrome (JS) and Meckel syndrome (MS). Although several knock-out mice lacking a variety of ciliary proteins have shown the importance of primary cilia in the development of the brain and CNS-derived structures, developmental in vitro studies, extremely useful to unravel the role of primary cilia along the course of neural differentiation, are still missing. Mouse embryonic stem cells (mESCs) have been recently proven to mimic brain development, giving the unique opportunity to dissect the CNS differentiation process along its sequential steps. In the present study we show that mESCs express the ciliary proteins Meckelin and Jouberin in a developmentally-regulated manner, and that these proteins co-localize with acetylated tubulin labeled cilia located at the outer embryonic layer. Further, mESCs differentiating along the neuronal lineage activate the cilia-dependent sonic hedgehog signaling machinery, which is impaired in Meckelin knock-out cells but results unaffected in Jouberin-deficient mESCs. However, both lose the ability to acquire a neuronal phenotype. Altogether, these results demonstrate a pivotal role of Meckelin and Jouberin during embryonic neural specification and indicate mESCs as a suitable tool to investigate the developmental impact of ciliary proteins dysfunction.

  13. MKS1 regulates ciliary INPP5E levels in Joubert syndrome

    PubMed Central

    Slaats, Gisela G.; Isabella, Christine R.; Kroes, Hester Y.; Dempsey, Jennifer C.; Gremmels, Hendrik; Monroe, Glen R.; Phelps, Ian G.; Duran, Karen J.; Adkins, Jonathan; Kumar, Sairam A.; Knutzen, Dana M.; Knoers, Nine V.; Mendelsohn, Nancy J.; Neubauer, David; Mastroyianni, Sotiria D.; Vogt, Julie; Worgan, Lisa; Karp, Natalya; Bowdin, Sarah; Glass, Ian A.; Parisi, Melissa A.; Otto, Edgar A.; Johnson, Colin A.; Hildebrandt, Friedhelm; van Haaften, Gijs; Giles, Rachel H.; Doherty, Dan

    2016-01-01

    Background Joubert syndrome (JS) is a recessive ciliopathy characterized by a distinctive brain malformation “the molar tooth sign”. Mutations in >27 genes cause JS, and mutations in 12 of these genes also cause Meckel syndrome (MKS). The goals of this work are to describe the clinical features of MKS1-related JS and determine whether disease causing MKS1 mutations affect cellular phenotypes such as cilium number, length and protein content as potential mechanisms underlying JS. Methods We measured cilium number, length and protein content (ARL13B and INPP5E) by immunofluorescence in fibroblasts from individuals with MKS1-related JS and in a 3D spheroid rescue assay to test the effects of disease-related MKS1 mutations. Results We report MKS1 mutations (eight of them previously unreported) in nine individuals with JS. A minority of the individuals with MKS1-related JS have MKS features. In contrast to the truncating mutations associated with MKS, all of the individuals with MKS1-related JS carry ≥1 non-truncating mutation. Fibroblasts from individuals with MKS1-related JS make normal or fewer cilia than control fibroblasts, their cilia are more variable in length than controls, and show decreased ciliary ARL13B and INPP5E. Additionally, MKS1 mutant alleles have similar effects in 3D spheroids. Conclusions MKS1 functions in the transition zone at the base of the cilium to regulate ciliary INPP5E content, through an ARL13B-dependent mechanism. Mutations in INPP5E also cause JS, so our findings in patient fibroblasts support the notion that loss of INPP5E function, due to either mutation or mislocalization, is a key mechanism underlying JS, downstream of MKS1 and ARL13B. PMID:26490104

  14. 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.

  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. The remarkable medical lineage of the Monro family: contributions of Alexander primus, secundus, and tertius.

    PubMed

    Wu, Osmond C; Manjila, Sunil; Malakooti, Nima; Cohen, Alan R

    2012-06-01

    Among the families that have influenced the development of modern medicine into what it is today, the Monro lineage stands as one of the most notable. Alexander Monro primus (1697-1767) was the first of 3 generations with the same name, a dynasty that spanned 126 years occupying the Chair of Anatomy one after the other at the University of Edinburgh. After becoming Professor of Anatomy at the University of Edinburgh in 1719, Monro primus played a principal role in the establishment of the University of Edinburgh School of Medicine and the Edinburgh Royal Infirmary. In 1726, he published The Anatomy of the Humane Bones, of which 8 editions were printed during his lifetime. His son, Alexander Monro secundus (1733-1817), arguably the most notable of the 3 men, succeeded him as Professor of Anatomy. A highly regarded lecturer and anatomist, Monro secundus studied under many great physicians, including William Hunter and Johann Friedrich Meckel the Elder, and was also teacher to other well-known figures at the time, such as Joseph Black and Thomas Trotter. His most notable contributions include his work with the lymphatic system, the interventricular foramen (of Monro), and the Monro-Kellie doctrine. Alexander Monro tertius (1773-1859), the last of the dynasty, also succeeded his father as Professor of Anatomy. His work included insights into abdominal aortic aneurysms and the anatomy of the genitourinary system. The prominent association of the Monro family with the University of Edinburgh and the effects of a tenured professorship under the concept of "Ad vitam aut culpam" over successive generations are also described. To the best of the authors' knowledge, this historical review of the Monro family is among the few published in neurosurgical literature. A vivid historical overview of the medical contributions of the most famous and influential dynasty of physicians in Edinburgh at that time is provided, with relevant excerpts from original publications.

  17. 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

  18. The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness.

    PubMed

    Baye, Lisa M; Patrinostro, Xiaobai; Swaminathan, Svetha; Beck, John S; Zhang, Yan; Stone, Edwin M; Sheffield, Val C; Slusarski, Diane C

    2011-04-15

    The gene coding for centrosomal protein 290 (CEP290), a large multidomain protein, is the most frequently mutated gene underlying the non-syndromic blinding disorder Leber's congenital amaurosis (LCA). CEP290 has also been implicated in several cilia-related syndromic disorders including Meckel-Gruber syndrome, Joubert syndrome, Senor-Loken syndrome and Bardet-Biedl syndrome (BBS). In this study, we characterize the developmental and functional roles of cep290 in zebrafish. An antisense oligonucleotide [Morpholino (MO)], designed to generate an altered cep290 splice product that models the most common LCA mutation, was used for gene knockdown. We show that cep290 MO-injected embryos have reduced Kupffer's vesicle size and delays in melanosome transport, two phenotypes that are observed upon knockdown of bbs genes in zebrafish. Consistent with a role in cilia function, the cep290 MO-injected embryos exhibited a curved body axis. Patients with LCA caused by mutations in CEP290 have reduced visual perception, although they present with a fully laminated retina. Similarly, the histological examination of retinas from cep290 MO-injected zebrafish revealed no gross lamination defects, yet the embryos had a statistically significant reduction in visual function. Finally, we demonstrate that the vision impairment caused by the disruption of cep290 can be rescued by expressing only the N-terminal region of the human CEP290 protein. These data reveal that a specific region of the CEP290 protein is sufficient to restore visual function and this region may be a viable gene therapy target for LCA patients with mutations in CEP290.

  19. Intussusception secondary to a carcinoid tumor in an adult patient☆

    PubMed Central

    Wiener-Carrillo, Isidoro; González-Alvarado, Carlos; Cervantes-Valladolid, Mario; Echaverry-Navarrete, Denis; Zubieta-O’Farrill, Gregorio; Gudiño-Chávez, Andrés

    2014-01-01

    INTRODUCTION Intussusception in adult patients represents 5% of all intussusceptions and 1–5% of bowel obstructions in adults. In contrast to pediatric patients, 90% of the time, in adults, it's caused by well-established pathologic mechanisms, such as carcinoma, polyps, diverticula, Meckel diverticula, stenosis, or benign neoplasms. Small intestine intussusceptions are more frequent, but colonic intussusceptions are caused 50% of the time by malignant neoplasms, especially adenocarcinoma. PRESENTATION OF CASE We present a 70-year-old woman, with no relevant familial history, who presented with a 3-day symptomatology consisting of epigastric, colic, diffuse, abdominal pain of moderate intensity, which progressed till reaching a severe intensity, also referring abdominal distension, nausea, and gastrointestinal-content vomits. DISCUSSION In adult patients, the exact mechanism of intussusception is unknown in 8–20% of the cases, however, secondary intussusception can occur with any lesion of the intestinal wall or any irritant factor in its lumen that alters normal peristaltic activity and that could serve as a trigger to start an intussusception of one bowel segment over another the most common site is the small intestine. CONCLUSION Intussusception represents an unusual problem in adult patients; it requires a high clinical suspicion, mainly as a differential diagnosis in patients with intestinal obstruction, and it clinically presents as a subacute or chronic illness. CT represents the most useful diagnostic tool. An attempt to perform reduction procedures in small intestine intussusceptions can be done, however, in ileocolic or colonic intussusceptions, a formal resection of the segment is recommended. PMID:24727207

  20. 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.

  1. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

    PubMed

    Bruel, Ange-Line; Franco, Brunella; Duffourd, Yannis; Thevenon, Julien; Jego, Laurence; Lopez, Estelle; Deleuze, Jean-François; Doummar, Diane; Giles, Rachel H; Johnson, Colin A; Huynen, Martijn A; Chevrier, Véronique; Burglen, Lydie; Morleo, Manuela; Desguerres, Isabelle; Pierquin, Geneviève; Doray, Bérénice; Gilbert-Dussardier, Brigitte; Reversade, Bruno; Steichen-Gersdorf, Elisabeth; Baumann, Clarisse; Panigrahi, Inusha; Fargeot-Espaliat, Anne; Dieux, Anne; David, Albert; Goldenberg, Alice; Bongers, Ernie; Gaillard, Dominique; Argente, Jesús; Aral, Bernard; Gigot, Nadège; St-Onge, Judith; Birnbaum, Daniel; Phadke, Shubha R; Cormier-Daire, Valérie; Eguether, Thibaut; Pazour, Gregory J; Herranz-Pérez, Vicente; Goldstein, Jaclyn S; Pasquier, Laurent; Loget, Philippe; Saunier, Sophie; Mégarbané, André; Rosnet, Olivier; Leroux, Michel R; Wallingford, John B; Blacque, Oliver E; Nachury, Maxence V; Attie-Bitach, Tania; Rivière, Jean-Baptiste; Faivre, Laurence; Thauvin-Robinet, Christel

    2017-03-13

    Oral-facial-digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to delineate a growing list of OFDS subtypes. The most frequent, OFD type I, is caused by a heterozygous mutation in the OFD1 gene encoding a centrosomal protein. The wide clinical heterogeneity of OFDS suggests the involvement of other ciliary genes. For 15 years, we have aimed to identify the molecular bases of OFDS. This effort has been greatly helped by the recent development of whole-exome sequencing (WES). Here, we present all our published and unpublished results for WES in 24 cases with OFDS. We identified causal variants in five new genes (C2CD3, TMEM107, INTU, KIAA0753 and IFT57) and related the clinical spectrum of four genes in other ciliopathies (C5orf42, TMEM138, TMEM231 and WDPCP) to OFDS. Mutations were also detected in two genes previously implicated in OFDS. Functional studies revealed the involvement of centriole elongation, transition zone and intraflagellar transport defects in OFDS, thus characterising three ciliary protein modules: the complex KIAA0753-FOPNL-OFD1, a regulator of centriole elongation; the Meckel-Gruber syndrome module, a major component of the transition zone; and the CPLANE complex necessary for IFT-A assembly. OFDS now appear to be a distinct subgroup of ciliopathies with wide heterogeneity, which makes the initial classification obsolete. A clinical classification restricted to the three frequent/well-delineated subtypes could be proposed, and for patients who do not fit one of these three main subtypes, a further classification could be based on the genotype.

  2. The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressor.

    PubMed

    Laclef, Christine; Anselme, Isabelle; Besse, Laurianne; Catala, Martin; Palmyre, Aurélien; Baas, Dominique; Paschaki, Marie; Pedraza, Maria; Métin, Christine; Durand, Bénédicte; Schneider-Maunoury, Sylvie

    2015-09-01

    Agenesis of the corpus callosum (AgCC) is a frequent brain disorder found in over 80 human congenital syndromes including ciliopathies. Here, we report a severe AgCC in Ftm/Rpgrip1l knockout mouse, which provides a valuable model for Meckel-Grüber syndrome. Rpgrip1l encodes a protein of the ciliary transition zone, which is essential for ciliogenesis in several cell types in mouse including neuroepithelial cells in the developing forebrain. We show that AgCC in Rpgrip1l(-/-) mouse is associated with a disturbed location of guidepost cells in the dorsomedial telencephalon. This mislocalization results from early patterning defects and abnormal cortico-septal boundary (CSB) formation in the medial telencephalon. We demonstrate that all these defects primarily result from altered GLI3 processing. Indeed, AgCC, together with patterning defects and mispositioning of guidepost cells, is rescued by overexpressing in Rpgrip1l(-/-) embryos, the short repressor form of the GLI3 transcription factor (GLI3R), provided by the Gli3(Δ699) allele. Furthermore, Gli3(Δ699) also rescues AgCC in Rfx3(-/-) embryos deficient for the ciliogenic RFX3 transcription factor that regulates the expression of several ciliary genes. These data demonstrate that GLI3 processing is a major outcome of primary cilia function in dorsal telencephalon morphogenesis. Rescuing CC formation in two independent ciliary mutants by GLI3(Δ699) highlights the crucial role of primary cilia in maintaining the proper level of GLI3R required for morphogenesis of the CC.

  3. 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

  4. 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.

  5. 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.

  6. Distinct effects of Hoxa2 overexpression in cranial neural crest populations reveal that the mammalian hyomandibular-ceratohyal boundary maps within the styloid process.

    PubMed

    Kitazawa, Taro; Fujisawa, Kou; Narboux-Nême, Nicolas; Arima, Yuichiro; Kawamura, Yumiko; Inoue, Tsuyoshi; Wada, Youichiro; Kohro, Takahide; Aburatani, Hiroyuki; Kodama, Tatsuhiko; Kim, Ki-Sung; Sato, Takahiro; Uchijima, Yasunobu; Maeda, Kazuhiro; Miyagawa-Tomita, Sachiko; Minoux, Maryline; Rijli, Filippo M; Levi, Giovanni; Kurihara, Yukiko; Kurihara, Hiroki

    2015-06-15

    Most gnathostomata craniofacial structures derive from pharyngeal arches (PAs), which are colonized by cranial neural crest cells (CNCCs). The anteroposterior and dorsoventral identities of CNCCs are defined by the combinatorial expression of Hox and Dlx genes. The mechanisms associating characteristic Hox/Dlx expression patterns with the topology and morphology of PAs derivatives are only partially known; a better knowledge of these processes might lead to new concepts on the origin of taxon-specific craniofacial morphologies and of certain craniofacial malformations. Here we show that ectopic expression of Hoxa2 in Hox-negative CNCCs results in distinct phenotypes in different CNCC subpopulations. Namely, while ectopic Hoxa2 expression is sufficient for the morphological and molecular transformation of the first PA (PA1) CNCC derivatives into the second PA (PA2)-like structures, this same genetic alteration does not provoke the transformation of derivatives of other CNCC subpopulations, but severely impairs their development. Ectopic Hoxa2 expression results in the transformation of the proximal Meckel's cartilage and of the malleus, two ventral PA1 CNCCs derivatives, into a supernumerary styloid process (SP), a PA2-derived mammalian-specific skeletal structure. These results, together with experiments to inactivate and ectopically activate the Edn1-Dlx5/6 pathway, indicate a dorsoventral PA2 (hyomandibular/ceratohyal) boundary passing through the middle of the SP. The present findings suggest context-dependent function of Hoxa2 in CNCC regional specification and morphogenesis, and provide novel insights into the evolution of taxa-specific patterning of PA-derived structures.

  7. Environmental regulation of type X collagen production by cultures of limb mesenchyme, mesectoderm, and sternal chondrocytes.

    PubMed

    Solursh, M; Jensen, K L; Reiter, R S; Schmid, T M; Linsenmayer, T F

    1986-09-01

    We have examined whether the production of hypertrophic cartilage matrix reflecting a late stage in the development of chondrocytes which participate in endochondral bone formation, is the result of cell lineage, environmental influence, or both. We have compared the ability of cultured limb mesenchyme and mesectoderm to synthesize type X collagen, a marker highly selective for hypertrophic cartilage. High density cultures of limb mesenchyme from stage 23 and 24 chick embryos contain many cells that react positively for type II collagen by immunohistochemistry, but only a few of these initiate type X collagen synthesis. When limb mesenchyme cells are cultured in or on hydrated collagen gels or in agarose (conditions previously shown to promote chondrogenesis in low density cultures), almost all initiate synthesis of both collagen types. Similarly, collagen gel cultures of limb mesenchyme from stage 17 embryos synthesize type II collagen and with some additional delay type X collagen. However, cytochalasin D treatment of subconfluent cultures on plastic substrates, another treatment known to promote chondrogenesis, induces the production of type II collagen, but not type X collagen. These results demonstrate that the appearance of type X collagen in limb cartilage is environmentally regulated. Mesectodermal cells from the maxillary process of stages 24 and 28 chick embryos were cultured in or on hydrated collagen gels. Such cells initiate synthesis of type II collagen, and eventually type X collagen. Some cells contain only type II collagen and some contain both types II and X collagen. On the other hand, cultures of mandibular processes from stage 29 embryos contain chondrocytes with both collagen types and a larger overall number of chondrogenic foci than the maxillary process cultures. Since the maxillary process does not produce cartilage in situ and the mandibular process forms Meckel's cartilage which does not hypertrophy in situ, environmental influences

  8. The role of transforming growth factor alpha in rat craniofacial development and chondrogenesis.

    PubMed

    Huang, L; Solursh, M; Sandra, A

    1996-08-01

    To explore the possible role of transforming growth factor alpha (TGF-alpha) in craniofacial development, its expression in the craniofacial region of rat embryos from embryonic day (d) 9 to d 20 was examined by in situ hybridisation and immunostaining. The TGF-alpha transcripts were first detected in the neural fold of embryonic d 9 and 10 embryos. In the craniofacial region, the TGF-alpha transcripts were not detected until embryonic d 16 in mesenchyme surrounding the olfactory bulb, within the olfactory bulb, the nasal capsule, vomeronasal organ, and vibrissal follicle. In addition, TGF-alpha message was detected in mesenchyme in the vicinity of Meckel's cartilage, and in the dental epithelium and lamina. This expression pattern of TGF-alpha transcripts persisted until embryonic d 17 but disappeared by d 18. The presence of TGF-alpha protein largely coincided with TGF-alpha message although, unlike the message, it persisted throughout later embryogenesis in the craniofacial region. The possible function of TGF-alpha in chondrogenesis was explored by employing the micromass culture technique. Cartilage nodule formation in mesenchymal cells cultured from rat mandibles in the presence of TGF-alpha was significantly inhibited. This inhibitory effect of TGF-alpha on chondrogenesis was reversed by addition of antibody against the EGF receptor, which crossreacts with the TGF-alpha receptor. The inhibitory effect of TGF-alpha on chondrogenesis in vitro was further confirmed by micromass culture using mesenchymal cells from rat embryonic limb bud. Taken together, these results demonstrate the involvement of TGF-alpha in chondrogenesis during embryonic development, possibly by way of a specific inhibition of cartilage formation from mesenchymal precursor cells.

  9. The role of transforming growth factor alpha in rat craniofacial development and chondrogenesis.

    PubMed Central

    Huang, L; Solursh, M; Sandra, A

    1996-01-01

    To explore the possible role of transforming growth factor alpha (TGF-alpha) in craniofacial development, its expression in the craniofacial region of rat embryos from embryonic day (d) 9 to d 20 was examined by in situ hybridisation and immunostaining. The TGF-alpha transcripts were first detected in the neural fold of embryonic d 9 and 10 embryos. In the craniofacial region, the TGF-alpha transcripts were not detected until embryonic d 16 in mesenchyme surrounding the olfactory bulb, within the olfactory bulb, the nasal capsule, vomeronasal organ, and vibrissal follicle. In addition, TGF-alpha message was detected in mesenchyme in the vicinity of Meckel's cartilage, and in the dental epithelium and lamina. This expression pattern of TGF-alpha transcripts persisted until embryonic d 17 but disappeared by d 18. The presence of TGF-alpha protein largely coincided with TGF-alpha message although, unlike the message, it persisted throughout later embryogenesis in the craniofacial region. The possible function of TGF-alpha in chondrogenesis was explored by employing the micromass culture technique. Cartilage nodule formation in mesenchymal cells cultured from rat mandibles in the presence of TGF-alpha was significantly inhibited. This inhibitory effect of TGF-alpha on chondrogenesis was reversed by addition of antibody against the EGF receptor, which crossreacts with the TGF-alpha receptor. The inhibitory effect of TGF-alpha on chondrogenesis in vitro was further confirmed by micromass culture using mesenchymal cells from rat embryonic limb bud. Taken together, these results demonstrate the involvement of TGF-alpha in chondrogenesis during embryonic development, possibly by way of a specific inhibition of cartilage formation from mesenchymal precursor cells. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 Fig. 6 Fig. 7 Fig. 9 PMID:8771398

  10. A new species of Spirorchis MacCallum, 1918 (Digenea: Schistosomatoidea) and Spirorchis cf. scripta from chicken turtle, Deirochelys reticularia (Emydidae), with an emendation and molecular phylogeny of Spirorchis.

    PubMed

    Roberts, Jackson R; Orelis-Ribeiro, Raphael; Halanych, Kenneth M; Arias, Cova R; Bullard, Stephen A

    2016-12-20

    Chicken turtles, Deirochelys reticularia (Latreille in Sonnini et Latreille) (Testudines: Emydidae) from Alabama, USA were infected by Spirorchis collinsi Roberts et Bullard sp. n. and Spirorchis cf. scripta. The new species is most easily differentiated from its congeners by the combination of having caeca that extend far beyond the genitalia, intercaecal genitalia positioned in the middle portion of the body, a testicular column that nearly abuts the caecal bifurcation, a cirrus sac positioned between the testes and ovary, a massive Mehlis' gland, an elongate, longitudinal metraterm that extends anteriad beyond the level of the ovary, a pre-ovarian genital pore, and a prominent, intercaecal Manter's organ. The specimens of S. cf. scripta differed from the holotype and published descriptions of Spirorchis scripta Stunkard, 1923 by several subtle morphological features, perhaps comprising intraspecific variation, but collectively warranted a detailed description herein. Based on examinations of the aforementioned specimens plus the holotype, paratypes and vouchers of morphologically-similar congeners, Spirorchis MacCallum, 1918 is emended to include the presence of oral sucker spines, a pharynx, lateral oesophageal diverticula ('plicate organ') and a median oesophageal diverticulum ('oeseophageal pouch'). Phylogenetic analysis of the nuclear large subunit rDNA (28S) recovered S. collinsi sister to Spirorchis picta Stunkard, 1923, > 99% similarity between S. cf. scripta and S. scripta, and a monophyletic Spirorchis MacCallum, 1918. No blood fluke infection has been reported previously from these drainages, Alabama, or this turtle species. This is the first new species of Spirorchis to be described from North America in 26 years.

  11. 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

  12. Treatment selection for urolithiasis: percutaneous nephrolithomy, ureteroscopy, shock wave lithotripsy, and active monitoring.

    PubMed

    Desai, Mahesh; Sun, Yinghao; Buchholz, Noor; Fuller, Andrew; Matsuda, Tadashi; Matlaga, Brian; Miller, Nicole; Bolton, Damien; Alomar, Mohammad; Ganpule, Arvind

    2017-03-16

    Urolithiasis is a significant worldwide source of morbidity, constituting a common urological disease that affects between 10 and 15% of the world population. Recent technological and surgical advances have replaced the need for open surgery with less invasive procedures. The factors which determine the indications for percutaneous nephrolithotomy include stone factors (stone size, stone composition, and stone location), patient factors (habitus and renal anomalies), and failure of other treatment modalities (ESWL and flexible ureteroscopy). The accepted indications for PCNL are stones larger than 20 mm(2), staghorn and partial staghorn calculi, and stones in patients with chronic kidney disease. The contraindications for PCNL include pregnancy, bleeding disorders, and uncontrolled urinary tract infections. Flexible ureteroscopy can be one of the options for lower pole stones between 1.5 and 2 cm in size. This option should be exercised in cases of difficult lower polar anatomy and ESWL-resistant stones. Flexible ureteroscopy can also be an option for stones located in the diverticular neck or a diverticulum. ESWL is the treatment to be discussed as a option in all patient with renal stones (excluding lower polar stones) between size 10 and 20 mm. In addition, in lower polar stones of size between 10 and 20 mm if the anatomy is favourable, ESWL is the option. In proximal ureteral stones, ESWL should be considered as a option with flexible ureteroscopy Active monitoring has a limited role and can be employed in post-intervention (PCNL or ESWL) residual stones, in addition, asymptomatic patients with no evidence of infection and fragments less than 4 mm can be monitored actively.

  13. Management of strangulated abdominal wall hernias with mesh; early results

    PubMed Central

    Ozbagriacik, Mustafa; Bas, Gurhan; Basak, Fatih; Sisik, Abdullah; Acar, Aylin; Kudas, Ilyas; Yucel, Metin; Ozpek, Adnan; Alimoglu, Orhan

    2015-01-01

    OBJECTIVE: Surgery for abdominal wall hernias is a common procedure in general surgery practice. The main causes of delay for the operation are comorbid problems and patient unwillingness, which eventually, means that some patients are admitted to emergency clinics with strangulated hernias. In this report, patients who admitted to the emergency department with strangulated adominal wall hernias are presented together with their clinical management. METHODS: Patients who admitted to our clinic between January 2009 and November 2011 and underwent emergency operation were included in the study retrospectively. Demographic characteristics, hernia type, length of hospital stay, surgical treatment and complications were assessed. RESULTS: A total 81 patients (37 female, 44 male) with a mean age of 52.1±17.64 years were included in the study. Inguinal, femoral, umbilical and incisional hernias were detected in 40, 26, 9 and 6 patients respectively. Polypropylene mesh was used in 75 patients for repair. Primary repair without mesh was used in six patients. Small bowel (n=10; 12.34%), omentum (n=19; 23.45%), appendix (n=1; 1.2%) and Meckel’s diverticulum (n=1; 1.2%) were resected. Median length of hospital stay was 2 (1–7) days. Surgical site infection was detected in five (6.2%) patients. No significant difference was detected for length of hospital stay and surgical site infection in patients who had mesh repair (p=0.232 and 0.326 respectively). CONCLUSION: The need for bowel resection is common in strangulated abdominal wall hernias which undergo emergency operation. In the present study, an increase of morbidity was seen in patients who underwent bowel resection. No morbidity was detected related to the usage of prosthetic materials in repair of hernias. Hence, we believe that prosthetic materials can be used safely in emergency cases. PMID:28058336

  14. Is endoscopic papillary large balloon dilation safe for treating large CBD stones?

    PubMed

    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.

  15. 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

  16. Efficacy and safety of emergency endoscopic retrograde cholangiopancreatography for acute cholangitis in the elderly

    PubMed Central

    Tohda, Gen; Ohtani, Masahiro; Dochin, Masaki

    2016-01-01

    AIM To investigate the efficacy and safety of emergency endoscopic retrograde cholangiopancreatography (ERCP) in elderly patients with acute cholangitis. METHODS From June 2008 to May 2016, emergency ERCPs were performed in 207 cases of acute cholangitis at our institution. Patients were classified as elderly if they were aged 80 years and older (n = 102); controls were under the age of 80 years (n = 105). The patients’ medical records were retrospectively reviewed for comorbidities, laboratory data, etiology of cholangitis (presence of biliary stones, biliary stricture and malignancy), details of the ERCP (therapeutic approaches, technical success rates, procedure duration), ERCP-related complications and mortality. RESULTS The frequency of comorbidities was higher in the elderly group than the control group (91.2% vs 67.6%). Periampullary diverticulum was observed in the elderly group at a higher frequency than the control group (24.5% vs 13.3%). Between the groups, there was no significant difference in the technical success rates (95.1% vs 95.2%) or endoscopic procedure durations. With regard to the frequency of ERCP-related complications, there was no significant difference between the two groups (6.9% vs 6.7%), except for a lower rate of post-ERCP pancreatitis in the elderly group than in the control group (1.0% vs 3.8%). Neither angiographic nor surgical intervention was required in any of the cases with ERCP-related complications. There was no mortality during the observational periods. CONCLUSION Emergency ERCP for acute cholangitis can be performed safely even in elderly patients aged 80 years and older. PMID:27729744

  17. Novel methylene blue staining technique for localizing small esophageal leiomyomas during thoracoscopic enucleation.

    PubMed

    Zhang, Z; Ai, B; Liao, Y; Liu, L; Liu, M

    2016-11-01

    The treatment of choice for leiomyoma, the most common benign esophageal tumor, is thoracoscopic enucleation. One of the most difficult aspects of thoracoscopic enucleation is the precise localization of small tumors (≤1.5 cm) and tumors without external protrusion. No simple, feasible solutions to this problem are available. We developed a novel methylene blue staining technique to localize small esophageal leiomyomas and evaluated the feasibility of our technique. Between January 2013 and July 2014, eight patients with small esophageal leiomyomas (≤1.5 cm) underwent thoracoscopic enucleation in Tongji Hospital. Preoperative endoscopic ultrasonography was performed in all patients. The leiomyomas were located in the middle (n = 5) and lower (n = 3) thirds of the esophagus. We preoperatively injected 0.5-1.0 mL methylene blue in the submucosa adjacent to the tumors under standard gastroscope guidance. The entire staining process took about 10 minutes. Staining was successful in all patients. The unstained tumor was exposed after the blue-stained mediastinal pleura, and overlying muscle were incised longitudinally. All procedures were successfully completed without conversion to open surgery. No abnormalities were detected in the esophageal mucosa. The median operating time was 60 minutes (range, 40-90 minutes). Postoperative histopathology confirmed leiomyoma in all patients. The median postoperative hospital stay was 6 days (range, 5-7 days). No major complications, such as esophageal leakage or esophageal diverticulum, occurred. Endoscopic methylene blue staining is safe and feasible for localizing small esophageal leiomyomas during thoracoscopic enucleation. This method will enable precise and easy enucleation.

  18. Preliminary results of thoracoscopic Belsey Mark IV antireflux procedure.

    PubMed

    Nguyen, N T; Schauer, P R; Hutson, W; Landreneau, R; Weigel, T; Ferson, P F; Keenan, R J; Luketich, J D

    1998-06-01

    Laparoscopic Nissen fundoplication has replaced open approaches for refractory gastroesophageal reflux disease (GERD) in many major medical centers. Here we report our preliminary results of the Belsey Mark IV antireflux procedure performed by video-assisted thoracoscopy (VATS-Belsey). Fifteen patients underwent VATS-Belsey. The indications for surgery included GERD refractory to medical therapy (n=10), achalasia (n=2), diffuse esophageal spasms (n=1), epiphrenic esophageal diverticulum (n=1), and paraesophageal hernia (n=1). The median operative time was 235 min. There were three conversions to open minithoracotomy (8-10 cm) necessitated by severe adhesions (n=2) and repair of a gastric perforation (n=1). The median hospital stay was 4 days. Postoperative complications included persistent air leaks, requiring discharge with a Heimlich valve in one patient. There were no perioperative deaths. At a median follow-up of 19 months, ten patients (66%) were asymptomatic and were not taking any antacids. One patient who had taken proton pump inhibitors preoperatively required postoperative H2 blockers for mild heartburn. In three patients, recurrent GERD symptoms (mean follow-up 6 months) led to laparoscopic takedown of the Belsey and Nissen fundoplication. One patient with achalasia, who had recurrent dysphagia after 1 year of relief following VATS myotomy and Belsey, underwent esophagectomy. The Belsey Mark IV antireflux procedure is technically feasible by VATS with minimal morbidity. However, our preliminary results suggest that open thoracotomy for Belsey Mark IV should remain the standard operation for GERD with poor esophageal motility when a thoracic approach is desired. We have modified our approach to laparoscopic partial fundoplications (Toupet or Dor) for severe GERD and poor esophageal motility when an abdominal approach is possible.

  19. Anatomy and forebrain projections of the olfactory and vomeronasal organs in axolotls (Ambystoma mexicanum).

    PubMed

    Eisthen, H L; Sengelaub, D R; Schroeder, D M; Alberts, J R

    1994-01-01

    We examined the anatomy of the nasal cavity and forebrain in the axolotl (Ambystoma mexicanum) to determine whether the olfactory and vomeronasal systems are present in this neotenic aquatic salamander. The current study was motivated by two considerations: (a) little is known of the anatomy of the vomeronasal system in aquatic vertebrates, and (b) the presence of both olfactory and vomeronasal systems in larval amphibians has broad implications for the evaluation of these systems in vertebrates. From cresyl-violet-stained sections of snouts we determined that the nasal cavity of axolotls is much like that of terrestrial salamanders. The main chamber of the nasal cavity contains an olfactory epithelium, which is confined to grooves between longitudinal ridges of connective tissue covered in a nonsensory epithelium which lacks goblet cells. Using transmission electron microscopy, we found morphologically distinct olfactory receptor cells: many receptor cells terminate in microvillar dendrites, and fewer terminate in motile cilia with the 9 + 2 microtubule array typical of vertebrate olfactory receptor cells. The ciliated and microvillar cells occur in clusters with little intermingling. Horseradish peroxidase labeling revealed that axons of the olfactory receptor cells terminate in large glomeruli in the main olfactory bulb at the rostral end of the telencephalon. Lateral to the main chamber of the nasal cavity is a diverticulum that is entirely lined with a vomeronasal epithelium containing basal cells, microvillar receptor cells, sustentacular cells that lack specialized processes on the apical surface, and large ciliated cells that may function to move fluid across the vomeronasal epithelium. Unlike the olfactory epithelium, the vomeronasal epithelium lacks Bowman's glands. Using horseradish peroxidase, we determined that the axons of the vomeronasal receptor cells project to the accessory olfactory bulb, a distinct structure dorsal and caudal to the main

  20. Characterization and expression of two amphioxus DDAH genes originating from an amphioxus-specific gene duplication.

    PubMed

    Chen, Dongyan; Lin, Yushuang; Zhang, Hongwei

    2008-02-29

    Two dimethylarginine dimethylaminohydrolase (DDAH) homologous genes in amphioxus are identified and cloned. The phylogenetic analysis indicates two DDAHs in amphioxus originated by independent duplication specific in cephalochordate lineage. Analysis of AmphiDDAHa and AmphiDDAHb genomic structure shows their comparability with the DDAH in vertebrate and aboriginality which is consistent with animal classification. To explore the function relationship of AmphiDDAHa and AmphiDDAHb with AmphiNOS, the nitric oxide synthase homologue in amphioxus, we investigate the three genes expression patterns in embryos and adult tissues. The results indicate that these three genes possess different spatial and temporal expression patterns during embryogenesis. AmphiDDAHa transcripts are detected extensively in the differentiating ectoderm, mesendoderm in gastrula/early neurula, the developing and newly formed neural tube, somites, notochord, alimentary canal and epidermis at neurula stage, as well as in the differentiating pharynx and tailbud at early larval stage. While AmphiDDAHb is expressed in the differentiating non-neural ectoderm at the gastrla/early neurula stage, then locates abroad in the developing and formed neural tube, notochord, somites and alimentary canal. AmphiNOS is expressed weakly but widely from early neurula stage to at least 72-h larva stage. In adult, AmphiDDAHa and AmphiNOS share similar expression patterns in diverse adult tissues and cells such as the neural cord, gut, midgut diverticulum, wheel organ, gill, blood vessels, endostyle, oocytes and macrophages. But no expression of AmphiDDAHb is detected in tissues mentioned above. The results suggest that AmphiDDAHa and AmphiDDAHb should be two homologous genes with different functions in amphioxus. AmphiDDAHa may play a conserved role in the regulation of NO synthesis and immune defense, whereas AmphiDDAHb may mainly play the roles in the cell movement or differentiation of embryonic non-neural ectoderm

  1. 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

  2. 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.

  3. Bacterial and fungal microflora on the external genitalia of male donkeys (Equus asinus).

    PubMed

    Carleton, Carla L; Donahue, J Michael; Marteniuk, Judith V; Sells, Stephen F; Timoney, Peter J

    2015-02-01

    This study was undertaken to investigate the bacterial and fungal microflora on the external genitalia of a population of healthy male donkeys in the state of Michigan, USA. The aim was to identify and determine the frequency of occurrence of these microorganisms using seven different isolation media and standard microbiological procedures. The sites (urethral fossa [fossa glandis], dorsal diverticulum of the urethral sinus, distal urethra, and penile surface) in the distal reproductive tract were cultured and each isolated microorganism identified. Ten different genera of gram-positive bacteria, eight different genera of gram-negative bacteria, and two genera of fungi were isolated from the external genitalia of the 43 donkeys in this study. All 43 donkeys yielded gram-positive bacteria (2-8 species) from all four sites sampled. Arcanobacterium spp., Corynebacterium spp., and Bacillus spp. were the most frequently isolated gram-positive bacteria. Gram-negative bacteria were cultured from 16 (37.2%) of the 43 donkeys, with Acinetobacterlwoffii (16.3%), Oligella urethralis (11.6%), and Taylorellaasinigenitalis (9.3%), the most frequently isolated. Fungi were cultured from only 5 (11.6%) of the 43 donkeys, with Rhizopus spp. isolated from 3 (7.0%) and Cladosporium spp. from 2 (4.7%) individuals. The testes and epididymides collected from 40 donkeys at time of castration were culture negative. Few differences were found in the bacterial flora between prepubertal and mature intact and castrated donkeys. Of notable interest was the scarcity of known equine pathogens across the population tested and isolation of T. asinigenitalis from normal donkeys, especially prepubertal individuals and previously castrated males.

  4. Endoscopic examination of the upper esophagus by withdrawal of endoscope over guide wire.

    PubMed

    Bhasin, Deepak K; Rana, Surinder S; Chandail, Vijant S; Nanda, Mohit; Nadkarni, Nikhil; Masoodi, Ibrahim; Sinha, Saroj K; Nagi, Birinder

    2006-01-01

    Upper gastrointestinal (UGI) endoscopy is an important diagnostic modality in evaluation of patients with upper gastrointestinal (GI) disorders. However, lesions located in the cricopharyngeal area and upper esophagus can be missed, as this area may not be well visualized during endoscopy. This study was conducted to study the utility of a new technique of endoscopic examination of the upper esophagus by withdrawal of endoscope over guide wire in diagnosing esophageal disorders. Patients with suspected upper esophageal disorders on history and radiological investigations were assessed using guide wire assisted endoscopic examination during withdrawal of the endoscope. In this technique, endoscope is inserted into the esophagus under vision and thereafter the whole of esophagus, stomach and proximal duodenum is examined. The endoscope is then withdrawn into the mid-esophagus, a guide wire is fed into the biopsy channel, and thereafter inserted into the esophagus. Once guide wire has been advanced into the esophagus, the endoscope is withdrawn gently over the guide wire into esophagus carefully examining for lesions in upper esophagus and cricopharyngeal area. Twenty cases of various abnormalities localized to the upper esophagus were studied. The final diagnosis in these patients was cervical esophageal web (10), post transhiatal esophagectomy leak (4), heterotopic gastric mucosa (3), posttraumatic esophageal perforation (2), and Zenker's diverticulum (1). Intact web was detected in 2 patients and in 8 patients fractured web was seen. Guide wire assisted examination of upper esophagus improved the ability to visualize and characterize these lesions and no complications were encountered as a result of this procedure. Endoscopic examination of the upper esophagus by withdrawal of endoscope over guide wire is safe and effective in diagnosing anatomical abnormalities of the upper esophagus that may be missed or poorly characterized during standard endoscopy.

  5. 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

  6. Presence of accessory left atrial appendage/diverticula in a population with atrial fibrillation compared with those in sinus rhythm: a retrospective review.

    PubMed

    Troupis, John; Crossett, Marcus; Scneider-Kolsky, Michal; Nandurkar, Dee

    2012-02-01

    Accessory left atrial appendages and atrial diverticula have an incidence of 10-27%. Their association with atrial fibrillation needs to be confirmed. This study determined the prevalence, number, size, location and morphology of accessory left atrial appendages/atrial diverticula in patients with atrial fibrillation compared with those in sinus rhythm. A retrospective analysis of 47 consecutive patients with atrial fibrillation who underwent 320 multidetector Coronary CT angiography (CCTA) was performed. A random group of 47 CCTA patients with sinus rhythm formed the control group. The presence, number, size, location and morphology of accessory left atrial appendages and atrial diverticula in each group were analysed. Twenty one patients had a total of 25 accessory left atrial appendages and atrial diverticula in the atrial fibrillation group and 22 patients had a total of 24 accessory left atrial appendages and atrial diverticula in the sinus rhythm group. Twenty-one atrial diverticula were identified in 19 patients in the atrial fibrillation group and 19 atrial diverticula in 17 patients in the sinus rhythm group. The mean length and width of accessory left atrial appendage was 6.9 and 4.7 mm, respectively in the atrial fibrillation group and 12 and 4.6 mm, respectively, in the sinus rhythm group, P = ns (not significant). The mean length and width of atrial diverticulum was 4.7 and 3.6 mm, respectively in the atrial fibrillation group and 6.2 and 5 mm, respectively in the sinus rhythm group (P = ns). Eighty-four % and 96% of the accessory left atrial appendages/atrial diverticula in the atrial fibrillation and sinus rhythm groups were located along the right anterosuperior left atrial wall. Accessory left atrial appendages and atrial diverticula are common structures with similar prevalence in patients with atrial fibrillation and sinus rhythm.

  7. 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

  8. [Surgical discovery of parathyroid glands and the recurrent laryngeal nerve. Application of well known embryological concepts in the operating room].

    PubMed

    Chevallier, J M; Martelli, H; Wind, P

    1995-01-01

    Surgery for thyroid or parathyroid glands has to be logical. It is based upon a precise knowledge of the development of the 3rd and 4th pharyngeal pouches and aortic arches. Pharyngeal pouches are endodermal derivatives of the lateral walls of the early foregut. Parathyroid glands have an ectodermal origin in concert with inductive forces of cells derived from the neural crest (which also creates parafollicular cells secreting calcitonin). From the third pouch thymus and parathyroid III move down together because of the cervical flexure and heart's "descent" (stages 14 to 20 mm). The fourth pouch gives rise to the so called "caudal pharyngeal complex" constituted by parathyroid IV dorsally, a "lateral thyroid" ventrally and an ultimo-branchial body derived from the fifth pouch. The thyroid gland first appears at the 4th week as a thickening of the endoderm of the floor of the pharynx which evaginates as a diverticulum in front of the trachea below. This medial component of the thyroid joins both lateral thyroids derived from the caudal pharyngeal complexes to form a bi-lobed structure with an isthmus. The lateral edge of the adult thyroid lobe has a thickening which is called Zuckerkandl's tuberculum because of the fusion of the ultimobranchial body into the principal médial thyroid process. This tuberculum lies in front of the caudal thyroid artery born from the 4th aortic arch. The recurrent laryngeal nerve courses round the 4th aortic arch: therefore parathyroids IV have to be above and behind the nerve and parathyroids III below and in front of the nerve.(ABSTRACT TRUNCATED AT 250 WORDS)

  9. Clinicopathological features of choledocholithiasis patients with high aminotransferase levels without cholangitis

    PubMed Central

    Huh, Cheal Wung; Jang, Sung Ill; Lim, Beom Jin; Kim, Hee Wook; Kim, Jae Keun; Park, Jun Sung; Kim, Ja Kyung; Lee, Se Joon; Lee, Dong Ki

    2016-01-01

    Abstract Common bile duct (CBD) stones are generally associated with greater elevations of alkaline phosphatase and gamma-glutamyl transpeptidase levels than aspartate aminotransferase and alanine aminotransferase levels. However, some patients with CBD stones show markedly increased aminotransferase levels, sometimes leading to the misdiagnosis of liver disease. Therefore, the aim of this study was to investigate the clinicopathologic features of patients with CBD stones and high aminotransferase levels. This prospective cohort study included 882 patients diagnosed with CBD stones using endoscopic retrograde cholangiopancreatography (ERCP). Among these patients, 38 (4.3%) exhibited aminotransferase levels above 400 IU/L without cholangitis (gallstone hepatitis [GSH] group), and 116 (13.2%) exhibited normal aminotransferase levels (control group). We compared groups in terms of clinical features, laboratory test results, radiologic images, and ERCP findings such as CBD diameter, CBD stone diameter and number, and periampullary diverticulum. Liver biopsy was performed for patients in the GSH group. GSH patients were younger and more likely to have gallbladder stones than control patients, implying a higher incidence of gallbladder stone migration. Also, GSH patients experienced more severe, short-lasting abdominal pain. ERCP showed narrower CBDs in GSH patients than in control patients. Histological analysis of liver tissue from GSH patients showed no abnormalities except for mild inflammation. Compared with control patients, GSH patients were younger and showed more severe, short-lasting abdominal pain, which could be due to a sudden increase of CBD pressure resulting from the migration of gallstones through narrower CBDs. These clinical features could be helpful not only for the differential diagnosis of liver disease but also for investigating the underlying mechanisms of liver damage in obstructive jaundice. Moreover, we propose a new definition of

  10. Best diagnostic approach for the genetic evaluation of fetuses after intrauterine death in first, second or third trimester: QF-PCR, karyotyping and/or genome wide SNP array analysis

    PubMed Central

    2014-01-01

    Background The aim of this study was to evaluate the best diagnostic approach for the genetic analysis of samples from first, second and third trimester intrauterine fetal deaths (IUFDs). We examined a total of 417 IUFD samples from fetuses with and without congenital anomalies. On 414 samples, karyotyping (N = 46) and/or rapid aneuploidy testing by QF-PCR (N = 371) was performed). One hundred sixty eight samples with a normal test result were subsequently tested by genome wide Single Nucleotide Polymorphism (SNP) array analysis. Three samples were only analyzed by array. Results In 50 (12.0%) samples an aneuploidy was detected by QF-PCR and/or karyotyping, representing 47.1% of first, 13.2% of second and 3.4% of third trimester pregnancies. Karyotyping and QF-PCR failed in 4 (8.7%) and 7 (1.9%) samples, respectively, concerning mostly contaminated amniotic fluid samples from third trimester pregnancies. Clinically relevant aberrations were identified in 4.2% (all fetuses with malformations) of the 168 samples tested by SNP array. Inherited copy number variants (CNVs) were detected in 5.4% and 8.9% showed CNVs of unknown clinical relevance as parental inheritance could not be studied yet. In a sample from a fetus suspect for Meckel-Grüber syndrome, the genotype information from the SNP array revealed various stretches of homozygosity, including one stretch encompassing the CEP290 gene. Subsequent CEP290 mutation analysis revealed a homozygous, pathogenic mutation in this gene. Conclusions Based on our experience we recommend QF-PCR as the first-line test in IUFD samples of first and second trimester pregnancies to exclude aneuploidy before performing array analysis. The chance to detect aneuploidy in third trimester pregnancies is relatively low and therefore array analysis can be performed as a first-tier test. A tissue sample, instead of amniotic fluid, is preferred because of a higher success rate in testing. We emphasize the need for analysis of parental

  11. 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

  12. 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

  13. 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

  14. Goethe's bone and the beginnings of morphology.

    PubMed

    Opitz, John M

    2004-04-01

    Biology as a discipline per se and its agenda, seems not to have been burdened from its beginnings as heavily with neo-Platonism as its subspecialty morphology, conceptualized at the same time by Goethe and Burdach. One of the reasons may have been that biologists were then regarded as "mere" naturalists, "doing" anatomy and embryology, breeding, and field work (as did Darwin, Wallace, Bateson and a legion of others during the 19th century), whereas the, perhaps more elitist, morphologists, ab initio devoted themselves to the origin, even to the Kantian analysis of causes of development and its variability within and between species. Since Goethe included abnormal plant development in his studies, his definition of morphology as the science of the form, formation and transformation of living organisms may be modified to include the concept of malformation, although the embryological and comparative analysis of vertebrate/mammalian malformation had its real inception somewhat later with the younger Meckel. In view of the meaning attached by his French contemporaries to the term transformisme (eventually defined as evolution) one would err considering Goethe as a prophet of "descent;" he was not, referring primarily to the continuous state of flux of living beings. Nonetheless, Goethe and Burdach independently coined the concept of morphology and set its agenda, increasingly freed of Naturphilosophie, an agenda that dominated 19th century biology but which did not come to fruition in its causal analysis of form and its formation until the 20th century, after Mendel, Darwin and the pioneers of experimental embryology (a.o., Roux, Driesch, Spemann, Vogt). In his discovery of the intermaxillary bone in humans (Goethe's bone), he had a startling insight, against conventional wisdom, into the anatomical, hence developmental, similarity of primate/mammals. During his lifetime, this was still called analogie by his great French contemporary Etienne Geoffroy St-Hilaire who

  15. MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.

    PubMed

    Li, Chunmei; Jensen, Victor L; Park, Kwangjin; 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

    2016-03-01

    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

  16. Wdr68 Mediates Dorsal and Ventral Patterning Events for Craniofacial Development.

    PubMed

    Alvarado, Estibaliz; Yousefelahiyeh, Mina; Alvarado, Greg; Shang, Robin; Whitman, Taryn; Martinez, Andrew; Yu, Yang; Pham, Annie; Bhandari, Anish; Wang, Bingyan; Nissen, Robert M

    2016-01-01

    Birth defects are among the leading causes of infant mortality and contribute substantially to illness and long-term disability. Defects in Bone Morphogenetic Protein (BMP) signaling are associated with cleft lip/palate. Many craniofacial syndromes are caused by defects in signaling pathways that pattern the cranial neural crest cells (CNCCs) along the dorsal-ventral axis. For example, auriculocondylar syndrome is caused by impaired Endothelin-1 (Edn1) signaling, and Alagille syndrome is caused by defects in Jagged-Notch signaling. The BMP, Edn1, and Jag1b pathways intersect because BMP signaling is required for ventral edn1 expression that, in turn, restricts jag1b to dorsal CNCC territory. In zebrafish, the scaffolding protein Wdr68 is required for edn1 expression and subsequent formation of the ventral Meckel's cartilage as well as the dorsal Palatoquadrate. Here we report that wdr68 activity is required between the 17-somites and prim-5 stages, that edn1 functions downstream of wdr68, and that wdr68 activity restricts jag1b, hey1, and grem2 expression from ventral CNCC territory. Expression of dlx1a and dlx2a was also severely reduced in anterior dorsal and ventral 1st arch CNCC territory in wdr68 mutants. We also found that the BMP agonist isoliquiritigenin (ISL) can partially rescue lower jaw formation and edn1 expression in wdr68 mutants. However, we found no significant defects in BMP reporter induction or pSmad1/5 accumulation in wdr68 mutant cells or zebrafish. The Transforming Growth Factor Beta (TGF-β) signaling pathway is also known to be important for craniofacial development and can interfere with BMP signaling. Here we further report that TGF-β interference with BMP signaling was greater in wdr68 mutant cells relative to control cells. To determine whether interference might also act in vivo, we treated wdr68 mutant zebrafish embryos with the TGF-β signaling inhibitor SB431542 and found partial rescue of edn1 expression and craniofacial

  17. The ultrastructure of the muscle coat of human gastro-oesophageal junction, with special reference to "interstitial cells of Cajal".

    PubMed

    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 richly

  18. Management of calyceal diverticular calculi: a comparison of percutaneous nephrolithotomy and flexible ureterorenoscopy.

    PubMed

    Bas, Okan; Ozyuvali, Ekrem; Aydogmus, Yasin; Sener, Nevzat Can; Dede, Onur; Ozgun, Serhat; Hizli, Fatih; Senocak, Cagri; Bozkurt, Omer Faruk; Basar, Halil; Imamoglu, Abdurrahim

    2015-04-01

    To compare the outcomes in patients who have been treated with flexible ureterorenoscopy (f-URS) and percutaneous nephrolithotomy (PNL) in managing stone-bearing caliceal diverticula. Between April 2007 and October 2013, we performed a retrospective analysis of 54 evaluable patients (28 women and 26 men) with symptomatic stone-bearing caliceal diverticula, who underwent PNL (n = 29) or F-URS (n = 25) in four referral hospitals in Turkey. The groups were compared with respect to demographics, stone location/size, success rate, stone-free status, symptom-free status, complication rates, and hospital stay. The average stone burden preoperatively was significantly larger in patients who were treated with PNL, with the average size for f-URS being 154 ± 77 mm(2) and that for PNL being 211 ± 97 mm(2) (p = 0.023). Symptom-free rates, success rates, stone-free rates and clinically insignificant residual fragments were similar between the groups (p = 0.880 vs. p = 0.537 vs. p = 0.539, and p = 0.877, respectively). There was no statistical difference between the groups for minor complications (p = 0.521) but no major complication (Clavien III-V) occured in the f-URS group; although there were three major complications (10.3 %) (Clavien III) in the PNL group (p < 0.001). Hospitalization time per patient was 1.04 ± 0.20 days in the f-URS group, while it was 3.86 ± 1.94 days in the PNL group (p < 0.001). Even though this study clearly shows that both techniques have high overall success and symptom-free rates with similar complication rates for stone-bearing calyceal diverticulum, major complication rates may suggest consideration of the invasiveness of PNL. The f-URS procedure is advantageous with respect to a shorter hospital stay and absence of major complications. Therefore, it should be emphasized that the location of the stone and diverticula is an important factor for the selection of the procedure.

  19. Effects of perinatal exposure to flutamide on sex hormones and androgen-dependent organs in F1 male rats.

    PubMed

    Miyata, Kaori; Yabushita, Setsuko; Sukata, Tokuo; Sano, Masashi; Yoshino, Hiroko; Nakanishi, Takumi; Okuno, Yasuyoshi; Matsuo, Masatoshi

    2002-02-01

    Flutamide, which has antiandrogenic properties, was administered to pregnant rats, and effects on male offspring were examined. Crj: CD (SD) IGS (SPF) females were administered flutamide (0.15, 0.6, 2.5, 10.0, 100 mg/kg, p.o.) from gestation Day 14 to post parturition Day 3. The number of pups, body weights, clinical features, anogenital distance (AGD), nipple retention, testicular descent, and urogenital malformation in F1 males were examined. Hormone measurement, necropsy and histopathological examination were carried out at post-neonatal Day 4 (PND 4) and PND 60. Sperm analysis was also carried out at PND 60. Decrease in body weight was seen in the 100 mg/kg group and the AGD was decreased at 2.5 mg/kg and above. Retention of nipples, hypospadia, vaginal pouches, penis malformation, unilateral ectopic testis, and decrease of organ weights (prostate, seminal vesicles, levator ani muscle plus bulbocavernosus muscle, testis) were observed at 10 mg/kg and above. Testicular testosterone (T) was increased significantly with 100 mg/kg at PND 4 and tendencies for increase were observed in serum T, LH and FSH at 10 mg/kg and more at the same time point. In contrast, elevated levels of LH and FSH were seen with 100 mg/kg at PND 60. Histopathological examination revealed defects or hypoplastic changes of genital organs (> or = 10 mg/kg), squamous metaplasia (10 mg/kg) or mucification (100 mg/kg) of the urethral diverticulum epithelium and inflammation of genital organs (100 mg/kg). Though only undescended testes lacked spermatogenesis at 10 mg/kg, atrophic change of seminiferous tubules and azoospermia were observed in the 100 mg/kg group, despite testicular descent. Perinatal administration of flutamide affected F1 male rats at 2.5 mg/kg and above. In addition to urogenital malformation, 100 mg/kg flutamide caused high LH and FSH levels at PND 60. This study indicates that the most sensitive parameter is AGD, whereby reduction was observed at 2.5 mg/kg. A clear no

  20. 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