Thymic cyst: a fourth branchial cleft anomaly.

PubMed

Nayan, Smriti; MacLean, Jonathan; Sommer, Doron

2010-01-01

We report a unique case of a fourth branchial cleft cyst found within the thymus of an adult patient. In the literature to date, there have been no reports of such a finding in the adult population. These anomalies can often cause recurrent acute suppurative thyroiditis or recurrent deep neck abscesses. Delay in recognizing the underlying etiology can lead to significant complications.

[Double second branchial cleft anomaly].

PubMed

Muñoz-Fernández, Noelia; Mallea-Cañizares, Ismael; Fernández-Julián, Enrique; De La Fuente-Arjona, Luís; Marco-Algarra, Jaime

2011-01-01

Second branchial cleft anomalies are the most common of this type of neck masses. They can be classified in four types (Bailey/Proctor classification) according to their location. Type II is the most common, and related to vital neck structures such as the carotid artery and jugular vein. Cysts are the most frequent among them. Management consists of surgical excision of the cyst and tract by cervicotomy to avoid recurrence. We present an extremely rare case of a 32-year-old male who presented a sudden appearance of a right lateral neck mass that was identified by an image study as a double branchial cleft cyst. A review of simultaneous branchial cleft cyst in the literature is also made. Copyright © 2009 Elsevier España, S.L. All rights reserved.

Complete second branchial cleft anomaly presenting as a fistula and a tonsillar cyst: an interesting congenital anomaly.

PubMed

Thottam, Prasad John; Bathula, Samba S; Poulik, Janet M; Madgy, David N

2014-01-01

Branchial cleft anomalies make up 30% of all pediatric neck masses, but complete second branchial cleft anomalies are extremely rare. We report an unusual case of a complete second branchial cleft anomaly that presented as a draining neck fistula and a tonsillar cyst in an otherwise healthy 3-month-old girl. At the age of 7 months, the patient had been experiencing feeding difficulties, and there was increasing concern about the risk of persistent infections. At that point, the anomaly was excised in its entirety. Our suspicion that the patient had a complete second branchial cleft anomaly was confirmed by imaging, surgical excision, and histopathologic analysis.

Third branchial cleft anomaly presenting as a retropharyngeal abscess.

PubMed

Huang, R Y; Damrose, E J; Alavi, S; Maceri, D R; Shapiro, N L

2000-08-31

Branchial cleft anomalies are congenital developmental defects that typically present as a soft fluctuant mass or fistulous tract along the anterior border of the sternocleidomastoid muscle. However, branchial anomalies can manifest atypically, presenting diagnostic and therapeutic challenges. Error or delay in diagnosis can lead to complications, recurrences, and even life-threatening emergencies. We describe a case of an infected branchial cleft cyst that progressed to a retropharyngeal abscess in a 5-week-old female patient. The clinical, radiographic, and histologic findings of this rare presentation of branchial cleft cyst are discussed.

Branchial Cleft Anomalies

PubMed Central

McPhail, Neil; Mustard, Robert A.

1966-01-01

The embryology, anatomy and pathology of branchial cleft anomalies are discussed and 87 cases reviewed. The most frequent anomaly was branchial cleft cyst, of which there were 77 cases. Treatment in all cases consisted of complete excision. There were five cases of external branchial sinus and five cases of complete branchial fistula. Sinograms were helpful in demonstrating these lesions. Excision presented little difficulty. No proved case of branchiogenic carcinoma has been found in the Toronto General Hospital. Five cases are described in which the original diagnosis was branchiogenic carcinoma—in four of these a primary tumour has already been found. The authors believe that the diagnosis of branchiogenic carcinoma should never be accepted until repeated examinations over a period of at least five years have failed to reveal a primary tumour. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5 PMID:5901161

Nasopharyngeal Carcinoma with Cystic Cervical Metastasis Masquerading as Branchial Cleft Cyst: A Potential Pitfall in Diagnosis and Management.

PubMed

Sai-Guan, Lum; Min-Han, Kong; Kah-Wai, Ngan; Mohamad-Yunus, Mohd-Razif

2017-03-01

Most metastatic lymph nodes from head and neck malignancy are solid. Cystic nodes are found in 33% - 61% of carcinomas arise from Waldeyer's ring, of which only 1.8% - 8% originate are from the nasopharynx. Some cystic cervical metastases were initially presumed to be branchial cleft cyst. This case report aims to highlight the unusual presentation of cystic cervical metastasis secondary to nasopharyngeal carcinoma in a young adult. The histopathology, radiological features and management strategy were discussed. A 36-year-old man presented with a solitary cystic cervical swelling, initially diagnosed as branchial cleft cyst. Fine needle aspiration yielded 18 ml of straw-coloured fluid. During cytological examination no atypical cells were observed. Computed tomography of the neck showed a heterogeneous mass with multiseptation medial to the sternocleidomastoid muscle. Histopathological examination of the mass, post excision, revealed a metastatic lymph node. A suspicious mucosal lesion at the nasopharynx was detected after repeated thorough head and neck examinations and the biopsy result confirmed undifferentiated nasopharyngeal carcinoma. Cystic cervical metastasis may occur in young patients under 40 years. The primary tumour may not be obvious during initial presentation because it mimicks benign branchial cleft cyst clinically. Retrospective review of the computed tomography images revealed features that were not characteristic of simple branchial cleft cyst. The inadequacy of assessment and interpretation had lead to the error in diagnosis and subsequent management. Metastatic head and neck lesion must be considered in a young adult with a cystic neck mass.

Branchial cleft and pouch anomalies in childhood: a report of 50 surgical cases.

PubMed

Spinelli, C; Rossi, L; Strambi, S; Piscioneri, J; Natale, G; Bertocchini, A; Messineo, A

2016-05-01

Branchial abnormalities occur when there is disturbance in the maturation of the branchial apparatus during fetal development. Branchial anomalies are congenital lesions usually present in childhood, even if they can be diagnosed later for enlargement or infection. A correct diagnosis will lead to proper management: complete surgical excision is the treatment of choice. The purpose of this article is to present clinical features, diagnostic methods and surgical treatment of branchial anomalies in childhood, based on a series of 50 patients. We conducted a retrospective analysis of a total of 50 pediatric patients operated from June 2005 to June 2014 for the presence of branchial cleft anomalies. 27 cases (54 %) presented a second branchial cleft fistula and 11 cases (22 %) a second branchial cleft cyst and one case (2 %) presented both cyst and sinus of the second branchial cleft; four cases (8 %) presented first branchial cleft cyst whereas four cases (8 %) a first branchial cleft sinus and two cases (4 %) a first branchial cleft fistula; one case (2 %) presented a piriform sinus fistula (third branchial cleft). None of our patients presented anomalies of the fourth branchial cleft. All patients underwent surgical treatment and lesions have been removed by excision or fistulectomy. No post-surgical complication occurred. The rate of recurrence was 4 %. Pre-operative diagnosis supplies important information to the surgeon for a proper therapy: a complete excision of the lesion without inflammatory signs is essential to avoid re-intervention and to achieve a good outcome.

A Third Branchial Pouch Cyst Presenting as Stridor in a Child

PubMed Central

Wasson, Joseph; Blaney, Sean; Simo, Ricard

2007-01-01

We present a rare case of a third branchial pouch cyst in an 18-month-old child, presenting with stridor and a lateral cervical cystic mass. Differences in the anatomical course of third and fourth branchial cysts, and histological differences between branchial pouch and branchial cleft cysts are discussed. PMID:17316513

Cytologic separation of branchial cleft cyst from metastatic cystic squamous cell carcinoma: A multivariate analysis of nineteen cytomorphologic features.

PubMed

Layfield, Lester J; Esebua, Magda; Schmidt, Robert L

2016-07-01

The separation of branchial cleft cysts from metastatic cystic squamous cell carcinomas in adults can be clinically and cytologically challenging. Diagnostic accuracy for separation is reported to be as low as 75% prompting some authors to recommend frozen section evaluation of suspected branchial cleft cysts before resection. We evaluated 19 cytologic features to determine which were useful in this distinction. Thirty-three cases (21 squamous carcinoma and 12 branchial cysts) of histologically confirmed cystic lesions of the lateral neck were graded for the presence or absence of 19 cytologic features by two cytopathologists. The cytologic features were analyzed for agreement between observers and underwent multivariate analysis for correlation with the diagnosis of carcinoma. Interobserver agreement was greatest for increased nuclear/cytoplasmic (N/C) ratio, pyknotic nuclei, and irregular nuclear membranes. Recursive partitioning analysis showed increased N/C ratio, small clusters of cells, and irregular nuclear membranes were the best discriminators. The distinction of branchial cleft cysts from cystic squamous cell carcinoma is cytologically difficult. Both digital image analysis and p16 testing have been suggested as aids in this separation, but analysis of cytologic features remains the main method for diagnosis. In an analysis of 19 cytologic features, we found that high nuclear cytoplasmic ratio, irregular nuclear membranes, and small cell clusters were most helpful in their distinction. Diagn. Cytopathol. 2016;44:561-567. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Branchial cleft cyst at an unusual location: a rare case with a brief review

PubMed Central

Panchbhai, A S; Choudhary, M S

2012-01-01

A branchial cleft cyst (BCC) commonly presents as a solitary, painless mass in the neck of a child or young adult. They are most commonly located along the anterior border and the upper third of the sternocleidomastoid muscle in the anterior triangle of the neck. It is very rare for a BCC to manifest in other locations, especially in the posterior triangle of the neck. BCCs are believed to be derived from the branchial apparatus, mostly from the second branchial arch, although many theories have been proposed to explain the aetiology of BCCs. It is possible for BCCs to be easily misdiagnosed as other swellings of oral or paraoral origin owing to their location. Intraoral lymphoepithelial cysts have also been reported in the literature. It is imperative that clinicians make an accurate diagnosis so that appropriate treatment can be performed. If the cysts are excised properly, recurrence is rare. A rare case report of BCC arising in the neck from an unusual location with components in the posterior triangle is presented here. PMID:22116133

Branchial cleft cyst: A case report and review of literature

PubMed Central

Chavan, Surekha; Deshmukh, Revati; Karande, Prasad; Ingale, Yeshwant

2014-01-01

First branchial cleft anomaly is a rare disease of the head and neck. Because of its rarity, first branchial cleft anomaly is often misdiagnosed and results in inappropriate management. In this article, we present a case of type II first branchial cleft anomaly. A middle-aged woman who had suffered from swelling on lower jaw visited our department with the chief complaint of a swelling. She underwent complete excision of the lesion with preservation of the facial nerve. The patient recovered well and had no recurrence at 1-year of follow up. PMID:24959062

Branchial cleft cyst: A case report and review of literature.

PubMed

Chavan, Surekha; Deshmukh, Revati; Karande, Prasad; Ingale, Yeshwant

2014-01-01

First branchial cleft anomaly is a rare disease of the head and neck. Because of its rarity, first branchial cleft anomaly is often misdiagnosed and results in inappropriate management. In this article, we present a case of type II first branchial cleft anomaly. A middle-aged woman who had suffered from swelling on lower jaw visited our department with the chief complaint of a swelling. She underwent complete excision of the lesion with preservation of the facial nerve. The patient recovered well and had no recurrence at 1-year of follow up.

Second branchial cleft anomaly with an ectopic tooth: a case report.

PubMed

Alyono, Jennifer C; Hong, Paul; Page, Nathan C; Malicki, Denise; Bothwell, Marcella R

2014-09-01

Branchial cleft cysts, sinuses, and fistulas are the most common congenital lateral neck lesions in children. They arise as a result of an abnormal development of the branchial arches and their corresponding ectoderm-lined branchial clefts. Of these diverse anomalies, second branchial cleft lesions are the most common, accounting for approximately 95% of all branchial arch pathologies. We describe what is to the best of our knowledge the first reported case of an ectopic tooth in a branchial cleft anomaly. The patient was a young girl who had other congenital abnormalities and syndromic features and who was eventually diagnosed with Townes-Brocks syndrome. We describe the clinical presentation, management, pathologic analysis, and postoperative outcomes of this case, and we present a brief review of Townes-Brocks syndrome.

First branchial cleft anomaly.

PubMed Central

Al-Fallouji, M. A.; Butler, M. F.

1983-01-01

A 15-year-old girl presented with a cystic swelling since birth behind the ramus of the right mandible and diagnosed clinically as a dermoid cyst. Surgical exploration, however, showed that it was closely related to the external auditory canal, with an extension running medially behind the parotid gland and ending in the bony middle ear. The facial nerve was closely related to the deep part of the cyst. Such an anatomical position indicates that this was a first branchial cleft anomaly. Surgical excision of the cyst was performed. PMID:6622327

Current management of congenital branchial cleft cysts, sinuses, and fistulae.

PubMed

Goff, Christopher J; Allred, Carly; Glade, Robert S

2012-12-01

Branchial anomalies comprise approximately 20% of pediatric congenital head and neck lesions. This study reviews current literature detailing the diagnosis and management of first, second, third and fourth branchial cysts, sinuses and fistulae. Branchial anomalies remain classified as first, second, third and fourth cysts, sinuses and fistulae. Management varies on the basis of classification. The imaging study of choice remains controversial. Computed tomography fistulography likely best demonstrates the complete course of the tract if a cutaneous opening is present. Treatment of all lesions has historically been by complete surgical excision of the entire tract. Studies of less invasive procedures for several anomalies are promising including sclerotherapy and endoscopic excision of second branchial cysts, and endoscopic cauterization or sclerotherapy at the piriform opening for third and fourth branchial sinuses. An increased risk of complications in children less than 8 years is reported in children undergoing open excision of third and fourth branchial anomalies. Branchial anomalies are common congenital pediatric head and neck lesions but are comprised by several diverse anomalies. Treatment must be tailored depending on which branchial arch is involved and whether a cyst mass or sinus/fistula tract is present.

[Surgical treatment of first branchial cleft anomaly].

PubMed

Xiao, Hongjun; Kong, Weijia; Gong, Shusheng; Wang, Jibao; Liu, Shiying; Shi, Hong

2005-10-01

To identify the clinical and anatomical presentations and to discuss the guidelines for surgical management of anomalies of the first branchial cleft. Twenty-one patients with first branchial cleft anomalies were treated in our department between January 1994 and December 2004, their clinical data were retrospectively analysed. Surgery was performed on all patients. Among them 13 were males and 8 females, ranging in age from 1.5 to 33 years with an average of 15 years. Anatomically, 3 types of first branchial cleft anomalies were identified: fistulas (n = 17), cysts (n = 2), and fistula combined with cyst (n = 2). Before definitive surgery, soma patients (n = 4) underwent incision and drainage for infection owing to the difficulties in diagnosing this anomaly. Methylthioninium Chloride was used in almost all cases for tracking the fistulous during operation. Wide exposure is necessary in many cases,and a standard parotidectomy incision allows adequate exposure of the anomaly and preservation of the facial nerve. Complete removal without complications depends on a good understanding of regional embryogenesis, an awareness of the different anatomical presentations, and a readiness to identify and protect the facial nerve during resection.

First branchial cleft anomaly presenting as a recurrent post-auricular abscess.

PubMed

Siddiq, M A

2003-01-01

Embryological anomalies of the first branchial cleft are uncommonly encountered. They usually present as cysts, swellings, or fistulas in the pre-auricular or post-auricular area or high in the neck, which may become infected. Failure to recognise these unusual cases may result in misdiagnosis, inadequate treatment, and subsequent recurrence. Further definitive surgery may thus be complicated. A case is reported of a patient who attended accident and emergency on three occasions with an infected post-auricular cyst, which was treated by incision and drainage. It was subsequently found to be a first branchial cleft anomaly.

Oropharyngeal trauma mimicking a first branchial cleft anomaly.

PubMed

Larem, Aisha; Sheikh, Rashid; Al Qahtani, Abdulsalam; Khais, Frat; Ganesan, Shanmugam; Haidar, Hassan

2016-06-01

We present a unique and challenging case of a remnant foreign body that presented to us in a child disguised as a strongly suspected congenital branchial cleft anomaly. This case entailed oropharyngeal trauma, with a delayed presentation as a retroauricular cyst accompanied by otorrhea that mimicked the classic presentation of an infected first branchial cleft anomaly. During surgical excision of the presumed branchial anomaly, a large wooden stick was found in the tract. The diagnostic and therapeutic obstacles in the management of such cases are highlighted. In addition to exploring the existing literature, we retrospectively analyzed a plausible explanation of the findings of this case. Laryngoscope, 126:E224-E226, 2016. © 2015 The American Laryngological, Rhinological and Otological Society, Inc.

A type II first branchial cleft cyst masquerading as an infected parotid Warthin's tumor.

PubMed

Chen, Meng-Feng; Ueng, Shir-Hwa; Jung, Shih-Ming; Chen, Yao-Liang; Chang, Kai-Ping

2006-01-01

The diagnosis of a parotid mass usually depends on thorough history taking and physical examination. Diagnostic modalities, including ultrasonographic examinations, computed tomography and magnetic resonance images, may also provide substantial information but their accuracy for diagnosis is sometimes questionable, especially in differentiating some rare neoplasms. First branchial cleft cysts (FBCCs) are rare causes of parotid swelling and comprise less than 1% of all branchial anomalies. They are frequently misdiagnosed due to their rarity and unfamiliar clinical signs and symptoms. We present a case of type II FBCC masquerading as an infected parotid Warthin's tumor. We also review the clinical signs and symptoms of FBCCs in order to remind clinicians that this rare branchial anomaly can mimic an infected Warthin's tumor and may be seated in the deep lobe of the parotid gland. By making an accurate pre-operative diagnosis of type II FBCC, we can minimize surgical morbidity and avoid incomplete resection and possible recurrence.

An unusual otoscopic finding associated with a type II first branchial cleft anomaly.

PubMed

Ebelhar, A J; Potts, K

2012-03-01

We report an interesting case involving a child with a branchial cleft anomaly with two fistulous tracts, one of which was associated with an unusual otoscopic finding. A seven-year-old girl presented with an apparent type II first branchial cleft cyst after an acute infection. Parotidectomy and excision of the tract were performed, with subsequent development of pre-auricular swelling three months later. Further surgery was performed to remove a second duplication anomaly of the external auditory canal. Otomicroscopy showed a fibrous band arising from the wall of the canal and attached to the tympanic membrane at the umbo. Otoscopic findings on physical examination can be important diagnostic clues in the early recognition of branchial cleft anomalies. The classification system proposed by Work may fail to describe some branchial cleft lesions.

Branchial cysts in two Amazon parrots (Amazona species).

PubMed

Beaufrère, Hugues; Castillo-Alcala, Fernanda; Holmberg, David L; Boston, Sarah; Smith, Dale A; Taylor, W Michael

2010-03-01

A 37-year-old yellow-crowned Amazon parrot (Amazona ochrocephala) and a 20-year-old red-lored Amazon parrot (Amazona autumnalis) each presented with a large mass localized on the lateral neck. With the first bird, there was no evidence of signs of pain or discomfort, and the bird prehended and swallowed food normally. The second bird showed signs of mild upper-gastrointestinal discomfort. Results of an ultrasound examination and aspiration of the mass on each bird revealed a cystic structure. A computed tomography performed on the second bird revealed a large polycystic mass connected to the pharynx by a lateral tract. During surgical resection, both masses were found to originate from the subpharyngeal area. Based on topography and the histopathologic and immunohistochemical results, the masses were determined to be a second branchial cleft cyst for the first case and a second branchial pouch cyst for the second case. In addition, a carcinoma was present in situ within the epithelium of case 1, and the cyst in case 2 was secondarily infected. Branchial cysts are uncommonly diagnosed in veterinary and human medicine. These 2 cases are the first documented in parrots and appear similar to second branchial cysts reported in adult humans.

Simultaneous branchial cleft and thyroid disorders may present a management challenge.

PubMed

Harding, Jane L; Veivers, David; Sidhu, Stan B; Sywak, Mark S; Shun, Albert; Delbridge, Leigh W

2005-09-01

Cysts, sinuses or abscesses arising from second, third or fourth branchial cleft remnants may lie either within the body of, or in close proximity to the thyroid gland. Given their infrequent nature they may pose both diagnostic and management challenges for the treating surgeon when they occur in association with thyroid disorders. This is a case series. All patients with concomitant thyroid disorders and a branchial cleft anomaly treated in the University of Sydney Endocrine Surgical Unit in the 10-year period 1994-2003 comprised the study group. Patient demographics, clinical presentation, imaging, surgical management, definitive histology and outcomes were documented. Six patients were identified with an age range of 3-76 years and a male : female ratio of 1:5. Five branchial cleft anomalies were left sided, one was right sided. Two patients had second cleft anomalies, both of which were initially thought to represent metastatic lymph nodes in association with thyroid cancer. A further two patients had third cleft abnormalities presenting as suppurative thyroiditis. The final two patients had fourth cleft abnormalities causing intraoperative management problems. Branchial cleft remnants and anomalies are rare but may occur in association with thyroid disease. They may pose a diagnostic and management dilemma either preoperatively, when mistaken for metastatic thyroid cancer, or intraoperatively when mistaken for a thyroid nodule.

Branchial cleft anomalies: a pictorial review of embryological development and spectrum of imaging findings.

PubMed

Adams, Ashok; Mankad, Kshitij; Offiah, Curtis; Childs, Lucy

2016-02-01

The branchial arches are the embryological precursors of the face, neck and pharynx. Anomalies of the branchial arches are the second most common congenital lesions of the head and neck in children, with second branchial arch anomalies by far the most common. Clinically, these congenital anomalies may present as cysts, sinus tracts, fistulae or cartilaginous remnants with typical clinical and radiological findings. We review the normal embryological development of the branchial arches and the anatomical structures of the head and neck that derive from each arch. The typical clinical and radiological appearances of both common and uncommon branchial arch abnormalities are discussed with an emphasis on branchial cleft anomalies. • Anomalies of the branchial arches usually present as cysts, sinuses or fistulae. • Second branchial arch anomalies account for approximately 95 % of cases. • There are no pathognomonic imaging features so diagnosis depends on a high index of suspicion and knowledge of typical locations. • Persistent cysts, fistulae or recurrent localised infection may be due to branchial arch anomalies. • Surgical excision of the cyst or tract is the most common curative option.

Branchial cleft anomalies: accuracy of pre-operative diagnosis, clinical presentation and management.

PubMed

Guldfred, L-A; Philipsen, B B; Siim, C

2012-06-01

To examine the accuracy of the pre-operative diagnosis of branchial cleft anomalies, and also to describe their occurrence, clinical presentation and management. Retrospective review of the records of patients diagnosed with a branchial cleft anomaly between 1997 and 2006. One hundred and twenty-six patients were included. Pre-operative diagnosis had a positive predictive value of 0.856 (95 per cent confidence interval, 0.771-0.918) and a sensitivity of 0.944 (95 per cent confidence interval, 0.869-0.979). These patients' demographic data, investigations, findings and management are presented, along with a possible strategy for dealing with solitary cystic masses in the neck. As pre-operative diagnosis has a positive predictive value of 86 per cent, cystic lesions in the neck should be presumed to be carcinomatous until proven otherwise. Branchial fistulae and sinuses seem to be a disease of childhood, while branchial cysts occur mainly in adults. Branchial cleft anomalies are equally frequent in men and women, and equally distributed on the left and right side of the neck.

Anatomical variations of the facial nerve in first branchial cleft anomalies.

PubMed

Solares, C Arturo; Chan, James; Koltai, Peter J

2003-03-01

To review our experience with branchial cleft anomalies, with special attention to their subtypes and anatomical relationship to the facial nerve. Case series. Tertiary care center. Ten patients who underwent resection for anomalies of the first branchial cleft, with at least 1 year of follow-up, were included in the study. The data from all cases were collected in a prospective fashion, including immediate postoperative diagrams. Complete resection of the branchial cleft anomaly was performed in all cases. Wide exposure of the facial nerve was achieved using a modified Blair incision and superficial parotidectomy. Facial nerve monitoring was used in every case. The primary outcome measurements were facial nerve function and incidence of recurrence after resection of the branchial cleft anomaly. Ten patients, 6 females and 4 males,with a mean age of 9 years at presentation, were treated by the senior author (P.J.K.) between 1989 and 2001. The lesions were characterized as sinus tracts (n = 5), fistulous tracts (n = 3), and cysts (n = 2). Seven lesions were medial to the facial nerve, 2 were lateral to the facial nerve, and 1 was between branches of the facial nerve. There were no complications related to facial nerve paresis or paralysis, and none of the patients has had a recurrence. The successful treatment of branchial cleft anomalies requires a complete resection. A safe complete resection requires a full exposure of the facial nerve, as the lesions can be variably associated with the nerve.

Metastatic squamous cell carcinoma of the gingiva appearing as a solitary branchial cyst carcinoma: diagnostic role of PET/CT.

PubMed

Zhang, Xiong-Xin; Zhao, Kui; Zhou, Shui-Hong; Wang, Qin-Ying; Liu, Jian-Hua; Lu, Zhong-Jie

2014-01-01

We herein present a case of a left cervical cystic mass, for which the initial pathological diagnosis was branchial cleft cyst carcinoma (following complete mass excision). Thorough postoperative examinations, including with FDG positron emission tomography/computed tomography (PET/CT), revealed a primary tumor in the retromolar region of the left mandible. A 52-year-old female presented with a 2-month history of a painless, progressively enlarged left-sided neck mass. Fine-needle aspiration biopsy suggested a branchial cleft cyst. Physical examination revealed a 3 × 3-cm smooth, tender mass in the upper-left neck and anterior border of the sternocleidomastoid muscle. Examination using nasendoscopy and a strobolaryngoscope revealed no abnormalities of the nasal cavity, nasopharynx, oropharynx, hypopharynx or larynx. MRI of the neck revealed a solitary, round, cystic mass under the left parotid gland. The mass was excised completely. Pathologic results indicated a branchial cleft cyst carcinoma. According to the diagnostic criteria for a branchial cleft cystic carcinoma, PET/CT was performed to detect the occult primary site. PET/CT revealed high FDG uptake in the tooth root of the left mandible. Frozen sections of the mass were indicative of moderate, differentiated squamous cell carcinoma. The carcinoma in the retromolar region of the left mandible was locally excised under general anesthesia. A partial left maxillectomy, partial mandibulectomy, and left radical neck dissection were performed. The patient received postoperative concurrent chemoradiotherapy, and was disease-free at the 8-month follow-up. True branchial cleft cyst carcinoma is rare: once diagnosed, it should be distinguished from metastatic cystic cervical lymph and occult primary carcinoma. FDG PET/CT is useful in the identification of occult primary tumor.

[Management and classification of first branchial cleft anomalies].

PubMed

Zhong, Zhen; Zhao, Enmin; Liu, Yuhe; Liu, Ping; Wang, Quangui; Xiao, Shuifang

2013-07-01

We aimed to identify the different courses of first branchial cleft anomalies and to discuss the management and classification of these anomalies. Twenty-four patients with first branchial cleft anomalies were reviewed. The courses of first branchial cleft anomalies and their corresponding managements were analyzed. Each case was classified according to Olsen's criteria and Works criteria. According to Olsen's criteria, 3 types of first branchial cleft anomalies are identified: cysts (n = 4), sinuses (n = 13), and fistulas (n = 7). The internal opening was in the external auditory meatus in 16 cases. Two fistulas were parallel to the external auditory canal and the Eustachian tube, with the internal openings on the Eustachian tube. Fourteen cases had close relations to the parotid gland and dissection of the facial nerve had to be done in the operation. Temporary weakness of the mandibular branch of facial nerve occurred in 2 cases. Salivary fistula of the parotid gland occurred in one patient, which was managed by pressure dressing for two weeks. Canal stenosis occurred in one patient, who underwent canalplasty after three months. The presence of squamous epithelium was reported in all cases, adnexal skin structures in 6 cases, and cartilage in 14 cases. The specimens of the fistula which extended to the nasopharynx were reported as tracts lined with squamous epithelium (the external part) and ciliated columnar epithelium (the internal part). According to Work's criteria, 9 cases were classified as Type I lesions, 13 cases were classified as Type II lesions, and two special cases could not be classified. The average follow-up was 83 months (ranging from 12 to 152 months). No recurrence was found. First branchial cleft anomalies have high variability in the courses. If a patient is suspected to have first branchial anomalies, the external auditory canal must be examined for the internal opening. CT should be done to understand the extension of the lesion. For cases

Unusual extension of the first branchial cleft anomaly.

PubMed

Ada, Mehmet; Korkut, Nazim; Güvenç, M Güven; Acioğlu, Engin; Yilmaz, Süleyman; Cevikbaş, Uğur

2006-03-01

First branchial cleft is the only branchial structure that persists as the external ear canal, while all other clefts are resorbed. Incomplete obliteration and the degree of closure cause the varied types of first branchial cleft anomalies. They were classified based on the anatomical and histological features. We present an unusual type of first branchial cleft anomaly involving the external auditory canal, the middle ear and the nasopharynx through the eustachian tube.

Case report: a branchial cleft anomaly presenting as an oropharyngeal mass.

PubMed

Mullin, David; Merz, Meredith

2011-12-01

Branchial anomalies are common cervical pathologic entities encountered in the field of otolaryngology and are typical in the pediatric and young adult populations. In most cases, these anomalies present as a cyst, sinus, or fistula in a rather stereotypical fashion. When a branchial anomaly deviates from the classic presentation, an improper diagnosis and inadequate management are more likely to occur, leading to an increased recurrence rate. We present a case of a 6-year-old girl with an incidental finding of a right posterior oropharyngeal wall mass, distinctly separate from the tonsillar fossa, which was found on pathologic analysis to be a branchial cleft anomaly. The theories regarding the pathogenesis of branchial anomalies are presented, along with other cases of atypical branchial anomalies.

Type II first branchial cleft anomaly.

PubMed

Al-Mahdi, Akmam H; Al-Khurri, Luay E; Atto, Ghada Z; Dhaher, Ameer

2013-01-01

First branchial cleft anomaly is a rare disease of the head and neck. It accounts for less than 8% of all branchial abnormalities. It is classified into type I, which is thought to arise from the duplication of the membranous external ear canal and are composed of ectoderm only, and type II that have ectoderm and mesoderm. Because of its rarity, first branchial cleft anomaly is often misdiagnosed and results in inappropriate management. A 9-year-old girl presented to us with fistula in the submandibular region and discharge in the external ear. Under general anesthesia, complete surgical excision of the fistula tract was done through step-ladder approach, and the histopathologic examination confirmed the diagnosis of type II first branchial cleft anomaly.

First branchial cleft anomalies: avoiding the misdiagnosis.

PubMed

Kumar, Rajeev; Sikka, Kapil; Sagar, Prem; Kakkar, Aanchal; Thakar, Alok

2013-07-01

First branchial cleft anomalies are a very rare entities accounting for less than 1 % of all branchial cleft malformations. They are often misdiagnosed for other cystic lesions occurring in parotid gland and inadequately treated (incision and drainage or incomplete excision) leading to multiple recurrences. We report a series of four patients who were previously operated (incision and drainage) for misdiagnosed first branchial cleft anomalies with subsequent recurrences. All patients underwent superficial parotidectomy with complete tract excision using facial nerve monitoring to prevent iatrogenic injury because of extensive fibrosis. We discuss the literature pertaining to first branchial cleft anomalies, their varied presentations and their relationship to facial nerve in parotid gland and importance of facial nerve monitoring in revision surgery.

The second branchial cleft fistula.

PubMed

Maddalozzo, John; Rastatter, Jeffrey C; Dreyfuss, Heath F; Jaffar, Reema; Bhushan, Bharat

2012-07-01

To review the surgical anatomy and histopathology of second branchial cleft fistulae. Retrospective study of patients treated for second branchial cleft fistulae at a tertiary care pediatric hospital. The senior author noted anatomic and histologic features of second branchial cleft fistulae, not previously described. Tertiary care children's hospital. Retrospective examination of 28 patients was conducted who were operated upon for second branchial cleft fistula. Data collected included age at surgery, initial presentation, imaging characteristics prior to surgery, laterality of the fistula tract, pathology results and follow-up data. Twenty-eight patients met the criteria for inclusion. Three patients (11%) had bilateral fistulae. 11 (39%) were male and 17 (61%) were female. 23 (74.2%) tracts were lined with ciliated columnar epithelium, 3 (9.7%) had cuboidal epithelium, and 5 (16.7%) had squamous epithelium. Nineteen (61.3%) tracts contained salivary tissue. Of the unilateral fistula tracts, 25 (100%) were on the right side. Of the 3 patients with bilateral lesions, 2 (66%) had associated branchio-oto-renal syndrome (BORS). Second branchial cleft fistulae are rare. They are usually right-sided. If bilateral fistulae are present, one should consider an underlying genetic disorder. The histology of the fistulae mostly demonstrates ciliated columnar epithelium with the majority of specimens showing salivary tissue. There is a clear association with the internal jugular vein (IJV). Dissection should continue until superior to the hyoid bone, ensuring near complete surgical dissection and less risk of recurrence. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

First branchial cleft anomaly, a case for misdiagnosis.

PubMed

Lanisnik, Bostjan; Didanovic, Vojko; Cizmarevic, Bogdan

2004-01-01

First branchial cleft anomaly is a rare condition that is often misdiagnosed and falsely mistreated before complete and definitive surgical treatment. Its origin is uncertain and the presence of ectodermal and sometimes also mesodermal elements has led some authors to the conclusion that it represents buried nests of cells forming the first branchial cleft and the underlying mesoderm. First branchial cleft anomaly can be presented as a cystic lesion, fistula or sinus extending towards the membranous external ear canal. The sinus tract runs through the parotid gland in close association with the facial nerve. There is no imaging method capable of identifying a first branchial cleft anomaly with certainty. The danger of facial nerve injury during surgery and the failure to identify the sinus tract running to the external ear canal are the main reasons for incomplete excision. The facial nerve must be identified and preserved and the lesion completely excised. Facial nerve injury is more common in attempts to remove recurrent branchial cleft lesions.

An undescribed first branchial cleft anomaly.

PubMed

Rockey, Jason Gabriel; John, D Gareth; Herbetko, John

2003-06-01

A variant of a type 2 first branchial cleft anomaly, in which accessory ossicles were found, is described. There follows a discussion of the classification of first branchial cleft abnormalities and how this particular case falls outside the standard classification. CT scanning is mentioned as the investigation that is most useful for defining these abnormalities.

First branchial cleft anomaly presenting as a recurrent post-auricular abscess

PubMed Central

Siddiq, M

2003-01-01

Failure to recognise these unusual cases may result in misdiagnosis, inadequate treatment, and subsequent recurrence. Further definitive surgery may thus be complicated. A case is reported of a patient who attended accident and emergency on three occasions with an infected post-auricular cyst, which was treated by incision and drainage. It was subsequently found to be a first branchial cleft anomaly. PMID:12533389

Surgical management of first branchial cleft anomaly presenting as infected retroauricular mass using a microscopic dissection technique.

PubMed

Chan, Kai-Chieh; Chao, Wei-Chieh; Wu, Che-Ming

2012-01-01

This is a detailed description of the clinical and anatomical presentation of the first branchial cleft anomaly presenting as retroauricular infected mass. Our experience with a microscopic dissection with control of the sinus lumen from within the cyst is also described. Between 2001 and 2008, patients with the final histologic diagnosis of first branchial cleft anomaly in the retroauricular area were managed with a microscopic dissection technique with control of the sinus lumen from within the cyst. Classifications were done in accordance with Work, Olsen, and Chilla. Outcomes measured intervention as a function of disease recurrence and complications including facial nerve function was used. Eight patients with a mean age of 14.2 years were enrolled, and this included 4 females and 4 males. Four type 1 and 4 type 2 lesions as per the Work's and Chilla's classification were found, and there were 5 sinuses, 2 fistulae, and 1 cyst according to Olsen's classification. All patients presented to the department with acute infection at the time of diagnosis. Five of the 8 patients had previous surgical treatment, 2 of those had up to 3 previous operations. None of the patients were complicated by disease recurrence or had surgical related complications (facial nerve paresis or paralysis, infection, canal stenosis) requiring reoperation with more than 1 year of follow-up. First branchial cleft anomaly presenting as retroauricular infected mass can be effectively treated by adopting a microscopic dissection technique with control of the sinus lumen from within the cyst. Copyright © 2012 Elsevier Inc. All rights reserved.

Diagnosis and treatment of branchial cleft anomalies in UKMMC: a 10-year retrospective study.

PubMed

Zaifullah, Syed; Yunus, Mohd Razif Mohamad; See, Goh Bee

2013-03-01

Branchial cleft anomalies result from abnormal persistence of branchial apparatus, which is located at the lateral part of the neck. These occur due to failure of obliteration of the branchial apparatus during embryonic development. Differential diagnoses of lateral neck mass are salivary gland or neurogenic neoplasms, paragangliomas, adenopathies, cystic hygroma or cystic metastasis from squamous cell carcinoma or thyroid papillary carcinoma. Clinically, a branchial cyst is smooth, round, fluctuant and non-tender, and usually occurs over the upper part of the neck, anterior to the sternocleidomastoid muscle. Sometimes, it may present as infected cyst (or abscess), a sinus or fistula. Surgical excision is the definitive treatment for branchial anomalies. The objective of the work was to study the demographic data, clinical presentation, definite diagnostic workup and treatment of patients diagnosed with branchial anomalies. This is a retrospective study of 26 patients who were diagnosed with branchial anomalies (branchial cyst and fistula), of which only 12 patients had data available between July 1999 and June 2009 at the Otorhinolaryngology, Head and Neck Surgery, Universiti Kebangsaan Malaysia Medical Centre. Twelve cases of branchial anomalies were seen, in which 10 patients had second branchial cyst anomalies, 1 had third branchial fistula and 1 had bilateral branchial lesion. There were seven females and five males. The age of the patients varied over a wide range (4-44 years), but the majority of the patients were in their second and third decade of life. All branchial anomalies occurred at the classical site; eight patients had left-sided neck lesion. Correct clinical diagnosis was made only in five patients (41.6 %). All patients underwent surgical excision with no reported recurrence. Branchial anomalies are frequently forgotten in the differential diagnosis of lateral neck swelling. Diagnosis is usually delayed, leading to improper treatment. The

[Recurrent neck abscess due to a branchial cleft remnant].

PubMed

Kruijff, Schelto; Mastboom, Walter J; Vriens, Menno R; Sidhu, Stan B; Delbridge, Leigh W

2013-01-01

Abscesses arising from a third or fourth branchial cleft remnant are uncommon clinical entities and are often not recognised in a timely manner. In a 33-year-old female patient with a recurrent abscess in the left side of her neck, the cause turned out to be a fistula in the third branchial cleft remnant. She was treated initially with antibiotics and prednisone without adequate results. When the abscess was finally surgically drained, she became very ill and was admitted to the ICU with sepsis and multiple organ failure. She was discharged from hospital after six weeks. Four months later, a third-branchial cleft remnant was found during pharyngoscopy, immediately after which the cleft remnant fistula was excised and an ipsilateral hemi-thyroidectomy was performed. In young patients with recurring peri-thyroidal abscesses, a branchial cleft remnant should be considered a causative factor; this could avoid high morbidity and a delay in the appropriate treatment.

First branchial cleft anomalies: otologic manifestations and treatment outcomes.

PubMed

Shinn, Justin R; Purcell, Patricia L; Horn, David L; Sie, Kathleen C Y; Manning, Scott C

2015-03-01

This study describes the presentation of first branchial cleft anomalies and compares outcomes of first branchial cleft with other branchial cleft anomalies with attention to otologic findings. Case series with chart review. Pediatric tertiary care facility. Surgical databases were queried to identify children with branchial cleft anomalies. Descriptive analysis defined sample characteristics. Risk estimates were calculated using Fisher's exact test. Queries identified 126 subjects: 27 (21.4%) had first branchial cleft anomalies, 80 (63.4%) had second, and 19 (15.1%) had third or fourth. Children with first anomalies often presented with otologic complications, including otorrhea (22.2%), otitis media (25.9%), and cholesteatoma (14.8%). Of 80 children with second branchial cleft anomalies, only 3 (3.8%) had otitis. Compared with children with second anomalies, children with first anomalies had a greater risk of requiring primary incision and drainage: 16 (59.3%) vs 2 (2.5%) (relative risk [RR], 3.5; 95% confidence interval [CI], 2.4-5; P<.0001). They were more likely to have persistent disease after primary excision: 7 (25.9%) vs 2 (2.5%) (RR, 3; 95% CI, 1.9-5; P=.0025). They were more likely to undergo additional surgery: 8 (29.6%) vs 3 (11.1%) (RR, 2.9; 95% CI, 1.8-4.7; P=.0025). Of 7 persistent first anomalies, 6 (85.7%) were medial to the facial nerve, and 4 (57.1%) required ear-specific surgery for management. Children with first branchial cleft anomalies often present with otologic complaints. They are at increased risk of persistent disease, particularly if anomalies lie medial to the facial nerve. They may require ear-specific surgery such as tympanoplasty. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2014.

Microbiology of third and fourth branchial pouch cysts.

PubMed

Pahlavan, Shane; Haque, Waqar; Pereira, Kevin; Larrier, Deidre; Valdez, Tulio A

2010-03-01

To identify the most common pathogens involved in infections of third and fourth branchial pouch cysts. Third and fourth branchial pouch cyst infections are an uncommon cause of anterior neck abscesses often confused with other entities, such as thyroglossal duct cysts and thyroid abscesses leading to misdiagnosis, recurrence, and increased morbidity related to a delay in diagnosis and appropriate treatment. Retrospective chart and literature review. Retrospective chart review case series of patients presenting to the Bobby R. Alford Department of Otolaryngology at Texas Children's Hospital from July 2004 to July 2008 with third and fourth branchial pouch cysts. A total of 11 patients were identified. All patients had left-sided lesions. Eikenella corrodens was found in 60% of cultures and was the most common organism identified in our patient group. Furthermore, 56% of the organisms isolated were anaerobic. All organisms with the exception of Staphylococcus aureus were identified as oral cavity flora. Third and fourth branchial pouch cysts provide a communication between the neck and the oral cavity through pyriform sinus tracts. The presence of oral cavity flora in a left anterior neck abscess should raise the suspicion of a branchial pouch anomaly, and subsequently alter therapeutic management.

Combined approach branchial sinusectomy: a new technique for excision of second branchial cleft sinus.

PubMed

Olusesi, A D

2009-10-01

Branchial cleft anomalies are well described, with the second arch anomaly being the commonest. Following surgical excision, recurrence occurs in 2 to 22 per cent of cases, and is believed to be due largely to incomplete resection. This report aims to describe a simple surgical technique for treatment of second branchial cleft sinus in the older paediatric age group and adults. An 11-year-old girl underwent surgical excision of a second branchial sinus. Prior to surgery, she was assessed by means of an imaging sonogram, and by direct methylene blue dye injection into the sinus on the operating table, followed by insertion of a metallic probe. Dissection was of the 'step ladder' incision type, but the incision was completed via an oropharyngeal approach. Histological examination of the lesion after excision established the diagnosis. No recurrence had been observed at the time of writing. Although they are congenital lesions, second branchial cleft abnormalities usually present in the older paediatric age group or even in adulthood. In the case reported, a simple combined approach ensured completeness of resection.

A rare variant of first branchial cleft fistula.

PubMed

Ramnani, S; Mungutwar, V; Goyal, N K; Bansal, A

2009-12-01

We report an extremely rare variant of first branchial cleft anomaly. A 15-year-old girl presented with a history of recurrent mucopurulent discharge from an opening in the left infra-auricular region, since birth. Computed tomography fistulography showed a tortuous tract measuring approximately 4.61 cm, extending anteroinferiorly and medially from the external inframeatal opening to the lateral nasopharyngeal wall (anterior to the fossa of Rosenmuller). The tract was connected to the deep lobe of the parotid gland and lay 0.67 cm anterior to the carotid artery and posterior to the medial pterygoid muscle. This was an extremely rare variant of first branchial cleft fistula. To the best of our knowledge, this is the first case of its type to be reported. Computed tomography fistulography is the imaging modality of choice for the diagnosis of branchial cleft fistula, and will also assist surgical planning.

[Diagnosis and surgical operation for fourth branchial cleft anomalies].

PubMed

Zhu, Ting; Hua, Qingquan

2011-11-01

To explore diagnosis and surgical operation through analyzing clinical features of the fourth branchial cleft anomalies. Clinical materials of 10 patients with the fourth branchial cleft anomalies were retrospectively analyzed, and literatures were studied to explore the diagnosis, differential diagnosis and treatment methods of surgical operation; lesions of 10 patients were completely removed by surgical operation, and internal sinus was properly handled. All 10 cases were cured, no recurrence were observed during a follow-up of 1-3 years. 1 patient appeared low voice, and drinking cough, back to normality after 2 weeks; 1 patient appeared paralysis of left hypoglossal nerves, back to normality after 3 months. Recurrent deep neck abscess and chronic sinus infections of anterior area in the lower part of neck should be considered with the diagnosis of the fourth branchial cleft anomalies. Enhanced neck CT scan and barium sulfate meal examination aid to diagnosis, pathological examination can be confirmed. Complete surgical removal of lesions is an effective treatment of fourth branchial cleft anomalies, knowing of the courses of internal sinus and spread of infection, and use of principle of selective neck dissection is the key to ensure complete removal of lesions.

First branchial cleft sinus presenting with cholesteatoma and external auditory canal atresia.

PubMed

Yalçin, Sinasi; Karlidağ, Turgut; Kaygusuz, Irfan; Demirbağ, Erhan

2003-07-01

First branchial cleft abnormalities are rare. They may involve the external auditory canal and middle ear. We describe a 6-year-old girl with congenital external auditory canal atresia, microtia, and cholesteatoma of mastoid and middle ear in addition to the first branchial cleft abnormalities. Clinical features of the patient are briefly described and the embryological relationship between first branchial cleft anomaly and external auditory canal atresia is discussed. The surgical management of these lesions may be performed, both the complete excision of the sinus and reconstructive otologic surgery.

Role of fine needle aspiration cytology in the preoperative investigation of branchial cysts.

PubMed

Slater, Jacqueline; Serpell, Jonathan W; Woodruff, Stacey; Grodski, Simon

2012-01-01

Successful preoperative diagnosis of a branchial cyst requires a systematic approach. The aim of this study was to evaluate methods of investigation of a lateral neck swelling suspicious for a branchial cyst, and to highlight cases where a less benign cause for the swelling should be suspected and therefore management altered appropriately. A retrospective case study of 24 patients with presumed branchial cysts managed operatively was undertaken. Demographic, clinical, imaging, cytology and histopathological data were analysed to formulate an approach to the work-up of a lateral neck swelling suspected to be a branchial cyst. All 24 patients presented with a lateral neck mass thought to be a branchial cyst preoperatively underwent preoperative fine-needle aspiration cytology. The overall accuracy of cytology in predicting a benign branchial cyst histopathologically was 83.3% (20 out of 24). Successful preoperative diagnosis of a branchial cyst requires a combination of imaging and cytology. If there is concern that a lateral neck swelling is not a branchial cyst on clinical, imaging or cytological features, then a full preoperative work-up, including computed tomography scan of the neck and upper aero-digestive tract endoscopy should be performed, prior to an excisional biopsy. © 2011 The Authors. ANZ Journal of Surgery © 2011 Royal Australasian College of Surgeons.

First Branchial Cleft Malformation with Duplication of External Auditory Canal

PubMed Central

Parida, Pradipta Kumar; Raja, Kalairasi; Surianarayanan, Gopalakrishnan; Ganeshan, Sivaraman

2013-01-01

First branchial cleft anomalies are uncommon, accounting for less than 10% of all branchial abnormalities. Their rare occurrence and varied presentation have frequently led to misdiagnosis and inadequate and inappropriate treatment of these conditions leading to repeated recurrences and secondary infection. In this paper, a case of 11-year girl with type 2 first branchial cleft defect is described. She first presented with a nonhealing ulcer of upper neck from childhood. Diagnosis had previously been missed and treated as tubercular ulcer. We confirmed the correct diagnosis by history and computerized tomography fistulogram. The lesion was completely excised with no further recurrence. PMID:24312740

Parapharyngeal cyst: considerations on embryology, clinical evaluation, and surgical management.

PubMed

Dallan, Iacopo; Seccia, Veronica; Bruschini, Luca; Ciancia, Eugenio; Franceschini, Stefano Sellari

2008-11-01

Branchial cleft anomalies represent a common cause of cervical mass in adults. Describing a case report, we reviewed embryology, clinical elements, and treatment options for parapharyngeal congenital cysts. A case of a parapharyngeal cyst mimicking a tonsillar abscess is presented. A second branchial cleft cyst was hypothesized on a clinical and radiologic basis and then confirmed by histologic data. Magnetic resonance imaging provided fundamental information for the study of the parapharyngeal mass and its relationship with surrounding structures. In literature, surgical excision is the recommended therapy. We removed the cyst through a transcervical approach, with no complications or recurrence after 3 years. In our opinion, cervicotomy should be considered the gold standard approach, even for lesions not palpable in the cervical area. When dealing with a parapharyngeal cyst, second branchial cleft anomalies should be considered. Our experience confirms that cervicotomy is a safe approach to parapharyngeal congenital lesions.

[Branchiogen cyst at unusual age and in rare localization. A case report].

PubMed

Horvath, Dóra; Redl, Pál; Hegedűs, Csaba

2015-12-01

Branchiogen anomalies represent a heterogeneous group of developmental abnormalities, they arise from incomplete obliteration of branchial clefts and pouches during embriogenesis. Clinically they can present as a cyst, fistula or sinus. Second cleft lesions account for 95% of the branchial anomalies. Second branchial cleft cysts are usually located in the neck, along the anterior border of the stenocleidomastoid muscle, but they can be anywhere along the course of the second branchial fistula from the tonsillar fossa to the supraclavicular region. Their presence in the nasopharynx is extremely rare. Ultrasound, computed tomography (CT) or magnetic resonance imaging is recommended for diagnosis. Definitive treatment is surgical excision, these lesions do not regress spontaneously and often result recurrent infections. A 7 month old infant applied to a pediatrician with gastrointestinal viral infection. During examination a cystic mass was discovered in the right lateral nasopharyngeal wall, the lesion extended to the oropharynx. Marsupialisation was performed via transoral approach. In case of cystic lesion in the lateral epipharynx, branchial cleft cyst should be considered in the differential diagnosis.

Rathke's cleft cyst

PubMed Central

Ringel, Steven P.; Bailey, Orville T.

1972-01-01

A 29 year old female with a chiasmal syndrome secondary to a Rathke's cleft cyst is described. The histology and pathogenesis of these rare cysts are discussed, contrasting them with other hypophysial cysts. Images PMID:4538890

First branchial cleft anomalies have relevance in otology and more.

PubMed

Tham, Y S; Low, W K

2005-05-01

First branchial cleft anomalies account for less than 8% of all branchial abnormalities. Their rarity and diverse presentations have frequently led to misdiagnosis and inappropriate treatment. In a trend towards specialisation/subspecialisation, first branchial cleft duplication anomalies, with their varied clinical manifestations, may possibly present to an Otology, Head and Neck Surgery, Paediatric Otolaryngology, Maxillofacial or even a General Paediatric and General Surgery practice. There is a need to highlight the clinical features which can aid in accurate diagnosis. A case of an adult with Work Type 2 first branchial cleft duplication anomaly presenting as a collaural fistula is described. It first presented as a recurrent upper neck abscess in childhood. The diagnosis had previously been missed although the patient was able to clearly establish a correlation between digging of the ipsilateral ear and precipitation of the abscess. Instead of an epidermal web, a myringeal lesion in the form of a fibrous band-like was present. The lesion was completely excised with no further recurrence. This case highlights useful diagnostic features both from the history and physical examination. The specialist/subspecialist must be aware of this condition and be mindful of its possible cross specialty/subspecialty symptoms and signs. Together with a good understanding of the regional embryology and anatomy, the lesion can be diagnosed early at initial presentation with the potential for best treatment outcomes.

Second branchial cleft fistulae: patient characteristics and surgical outcome.

PubMed

Kajosaari, Lauri; Mäkitie, Antti; Salminen, Päivi; Klockars, Tuomas

2014-09-01

Second branchial cleft anomalies predispose to recurrent infections, and surgical resection is recommended as the treatment of choice. There is no clear consensus regarding the timing or surgical technique in the operative treatment of these anomalies. Our aim was to compare the effect of age and operative techniques to patient characteristics and treatment outcome. A retrospective study of pediatric patients treated for second branchial sinuses or fistulae during 1998-2012 at two departments in our academic tertiary care referral center. Comparison of patient characteristics, preoperative investigations, surgical techniques and postoperative sequelae. Our data is based on 68 patients, the largest series in the literature. One-fourth (24%) of patients had any infectious symptoms prior to operative treatment. Patient demographics, preoperative investigations, use of methylene blue, or tonsillectomy had no effect on the surgical outcome. There were no re-operations due to residual disease. Three complications were observed postoperatively. Our patient series of second branchial cleft sinuses/fistulae is the largest so far and enables analyses of patient characteristics and surgical outcomes more reliably than previously. Preoperative symptoms are infrequent and mild. There was no difference in clinical outcome between the observed departments. Performing ipsilateral tonsillectomy gave no outcome benefits. The operation may be delayed to an age of approximately three years when anesthesiological risks are and possible harms are best avoided. Considering postoperative pain and risk of postoperative hemorrhage a routine tonsillectomy should not be included to the operative treatment of second branchial cleft fistulae. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

First branchial cleft fistula associated with external auditory canal stenosis and middle ear cholesteatoma.

PubMed

Abdollahi Fakhim, Shahin; Naderpoor, Masoud; Mousaviagdas, Mehrnoosh

2014-10-01

First branchial cleft anomalies manifest with duplication of the external auditory canal. This report features a rare case of microtia and congenital middle ear and canal cholesteatoma with first branchial fistula. External auditory canal stenosis was complicated by middle ear and external canal cholesteatoma, but branchial fistula, opening in the zygomatic root and a sinus in the helical root, may explain this feature. A canal wall down mastoidectomy with canaloplasty and wide meatoplasty was performed. The branchial cleft was excised through parotidectomy and facial nerve dissection. It should be considered that canal stenosis in such cases can induce cholesteatoma formation in the auditory canal and middle ear.

[Intraparotid first branchial arch cyst: complex diagnostic and therapeutic process].

PubMed

Gilabert Rodríguez, R; Berenguer, B; González Meli, B; Marín Molina, C; de Tomás Palacios, E; Buitrago Weiland, G; Aguado del Hoyo, A

2013-01-01

First branchial arch cysts are uncommon. Therefore, together with its variable clinical and age presentation they are often misdiagnosed at first. The treatment is surgical, requiring a correct procedure to avoid future recurrences. In this paper we describe a typical case of first branchial arch cyst in which as described in other reports, we first made several misdiagnoses and therefore an inadequate treatment and lastly, with the correct diagnosis, we performed a meticulous complete excision under facial nerve monitoring.

First Branchial Cleft Fistula Associated with External Auditory Canal Stenosis and Middle Ear Cholesteatoma

PubMed Central

Abdollahi fakhim, Shahin; Naderpoor, Masoud; Mousaviagdas, Mehrnoosh

2014-01-01

Introduction: First branchial cleft anomalies manifest with duplication of the external auditory canal. Case Report: This report features a rare case of microtia and congenital middle ear and canal cholesteatoma with first branchial fistula. External auditory canal stenosis was complicated by middle ear and external canal cholesteatoma, but branchial fistula, opening in the zygomatic root and a sinus in the helical root, may explain this feature. A canal wall down mastoidectomy with canaloplasty and wide meatoplasty was performed. The branchial cleft was excised through parotidectomy and facial nerve dissection. Conclusion: It should be considered that canal stenosis in such cases can induce cholesteatoma formation in the auditory canal and middle ear. PMID:25320705

The double auditory meatus--a rare first branchial cleft anomaly: clinical presentation and treatment.

PubMed

Stokroos, R J; Manni, J J

2000-11-01

To discuss the embryology, classification, clinical experience with, and management of first branchial cleft anomalies. Retrospective case review. Tertiary referral center. Patients with a first branchial cleft anomaly. Surgery or revision surgery. Classifications according to Work, Olsen, Chilla; previous diagnostic and therapeutic pitfalls; outcome of intervention (including facial nerve function). Between 1984 and 1999, first branchial cleft anomalies were diagnosed in 18 patients. Surgical treatment was the treatment of choice. The authors' approach in Work type I and type 2 lesions is described, and surgical aspects of revision surgery are discussed. The importance of early establishment of the relationship of the anomaly to the facial nerve is stressed. In 8 patients, previous surgical attempts had been undertaken without establishment of the diagnosis first. After intervention, the outcome was favorable. First branchial cleft anomalies occur sporadically in ordinary clinical practice. They may go unrecognized or may be mistaken for tumors or other inflammatory lesions of in the periauricular region. However, the distinct clinical features, which can be derived from embryologic development, usually lead to the correct diagnosis. This avoids both treatment delay and eventual failure.

Lateral cervical cleft: a previously unreported anomaly resulting from incomplete disappearance of the second pharyngeal (branchial) cleft.

PubMed

Gürsoy, M H; Gedikoğlu, G; Tanyel, F C

1999-03-01

The authors present a 2-year-old boy with a skin defect located in the right lateral side of the neck. They suggest the defect is a partial failure of disappearance of the second pharyngeal (branchial) cleft and propose a name of lateral cervical cleft.

Epithelial Cyst in the Posterior Triangle of the Neck: Atypical Branchial Cyst or Cystic Lymph Node Metastasis?

PubMed Central

Vital, Domenic; Huber, Gerhard F.; Pézier, Thomas F.; Rössle, Matthias; Probst, Rudolf; Widmer, Gian-Marco

2014-01-01

We report the case of a 66-year-old man with a cervical neck mass located behind the left sternocleidomastoid muscle. To exclude malignancy, a full workup, including clinical, radiological, and cytological examination, was performed but failed to provide a definitive diagnosis. Histological analysis following excisional biopsy revealed a benign epithelial cyst, consistent with an atypically located branchial cyst. We describe an approach to the management of these neck masses and discuss several theories of the etiology of branchial cysts and how they may come to be abnormally located. PMID:24523976

A fatal case of severe neck abscess due to a third branchial cleft fistula: morphologic and immunohistochemical analyses.

PubMed

Tong, Fang; Liang, Yue; Khan, Muhammad Fasahat; Zhang, Lin; Li, Wenhe; Mahmoodurrahman, Mohammed; Zhou, Yiwu

2016-09-15

Branchial cleft anomalies constitute a frequently encountered and commonly non-lethal disease in otolaryngology, and result from aberrant embryonic development. The third branchial cleft fistula is one of the four known specific types of branchial cleft anomalies, and always presents as recurrent neck abscess and suppurative thyroiditis. Here, we report an unexpected death due to severe neck infection following a third branchial cleft fistula. A 19-year-old man was sent to the hospital with a 1-week history of recurrent left-sided neck abscess, and was scheduled for incision and drainage of the abscess. However, before the surgery was performed, the man's condition deteriorated and he died. A review of his medical history showed that he had undergone a previous incision and drainage for a neck abscess 2 years ago. Postmortem examination revealed that the fatal neck abscess was induced by a third branchial cleft fistula. We conclude that a histopathological examination of neck tissue combined with a detailed review of medical history and examination of ultrasonographic and CT images can provide a rapid and accurate diagnosis of third branchial cleft fistula. This common, non-lethal disease can potentially lead to death if the neck infection is not properly diagnosed and treated. In medico-legal practice, medical examiners should be aware of this condition, as this knowledge would be important in the diagnosis of the cause of death.

Branchial cysts: an unusual cause of a mediastinal mass: a case report.

PubMed

Kotecha, Vihar; Muturi, Alex; Ruturi, Josiah

2015-09-29

Complex embryological processes form the head and neck of humans. It is not flawless; remnants lead to sinuses or cysts, commonly in the head and neck region. We present the a case of an 8-year-old boy, a primary school pupil, from rural Kenya with chronic cough, wheezing, difficulty in breathing and dyspnea on exertion. He was treated with antibiotics and antitubercular drugs without improvement prior to referral to our hospital. A computed tomography scan of his chest revealed a superior mediastinal mass extending into his neck. A diagnosis of a brachial cleft cyst was made and our patient underwent a successful excision of the mass through a median strenotomy and neck dissection. Branchial cysts of the neck are common, accounting for 20% of pediatric neck masses. Usually they present as a neck mass but in our case it presented as a mediastinal mass, which is a very rare clinical presentation. Surgical excision is the mainstay of treatment. To the surgeon, the embryology and anatomy should be absolutely clear as dissection may be challenging due to the close proximity and variable course of the cystic stalk to major neck vessels and nerves.

Resection of recurrent branchial cleft deformity using selective neck dissection technique.

PubMed

Cai, Qian; Pan, Yong; Xu, Yaodong; Liang, Faya; Huang, Xiaoming; Jiang, Xiaoyu; Han, Ping

2014-07-01

This study explores application of selective neck dissection technique in recurrent second, third, and fourth branchial cleft deformities. A total of 19 cases of recurrent second, third, and fourth branchial cleft deformities were treated using the selective neck dissection technique, during which the sternocleidomastoid muscle, cervical anterior muscle, and carotid sheath were contoured. The lesion above the prevertebral fascia was then resected en bloc. Finally, the opening of the internal fistula was ligated and sutured using the purse-string approach. Patients in this study had no injures to their internal carotid artery, jugular vein, vagus nerve, accessory nerve, hypoglossal nerve, or recurrent laryngeal nerve. There were also no complications such as poor wound healing. The patients were monitored for 7-73 months and showed no recurrences. Using selective neck dissection to treat second, third, and fourth branchial cleft deformities resulted in en bloc lesion resections and reduced the chance of recurrence. Contouring the sternocleidomastoid muscle, strap muscle, and carotid sheath is key to the surgical procedure, as it leads to en bloc lesion resection while retaining the recurrent laryngeal nerve and carotid sheath. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Bilateral first branchial cleft anomaly with evidence of a genetic aetiology.

PubMed

Gonzalez-Perez, L M; Prats-Golczer, V E; Montes Carmona, J F; Heurtebise Saavedra, J M

2014-03-01

Anomalies of the first branchial cleft (FBC) are uncommon, and recognizing them can be difficult. Although present at birth, many cases do not become evident until later in childhood or adolescence, with an initial clinical presentation in adulthood being encountered only rarely. Typically, FBC anomalies present as a unilateral cyst, sinus, or fistula associated with the external auditory canal, or with swelling or an inflammatory opening in the peri-auricular/parotid area. They are commonly misdiagnosed and are often treated inadequately before being excised completely. A 40-year-old woman presented to the maxillofacial outpatient clinic with an episode of bilateral pre-auricular tumefaction, initially diagnosed as temporomandibular dysfunction syndrome. This was associated with bilateral pre-auricular pain that increased with mandibular movements. In relation to the patient's history, and given the bilateral presence of a pre-auricular pit, a diagnosis of FBC anomaly was made. Further investigation showed a related asymptomatic history in five other cases across four generations of the same family. The authors describe here the case, the diagnostic methodology, and the wide local excision technique used for removal of the branchial sinus. Copyright © 2013 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

Branchial anomalies in children.

PubMed

Bajaj, Y; Ifeacho, S; Tweedie, D; Jephson, C G; Albert, D M; Cochrane, L A; Wyatt, M E; Jonas, N; Hartley, B E J

2011-08-01

Branchial cleft anomalies are the second most common head and neck congenital lesions seen in children. Amongst the branchial cleft malformations, second cleft lesions account for 95% of the branchial anomalies. This article analyzes all the cases of branchial cleft anomalies operated on at Great Ormond Street Hospital over the past 10 years. All children who underwent surgery for branchial cleft sinus or fistula from January 2000 to December 2010 were included in this study. In this series, we had 80 patients (38 female and 42 male). The age at the time of operation varied from 1 year to 14 years. Amongst this group, 15 patients had first branchial cleft anomaly, 62 had second branchial cleft anomaly and 3 had fourth branchial pouch anomaly. All the first cleft cases were operated on by a superficial parotidectomy approach with facial nerve identification. Complete excision was achieved in all these first cleft cases. In this series of first cleft anomalies, we had one complication (temporary marginal mandibular nerve weakness. In the 62 children with second branchial cleft anomalies, 50 were unilateral and 12 were bilateral. In the vast majority, the tract extended through the carotid bifurcation and extended up to pharyngeal constrictor muscles. Majority of these cases were operated on through an elliptical incision around the external opening. Complete excision was achieved in all second cleft cases except one who required a repeat excision. In this subgroup, we had two complications one patient developed a seroma and one had incomplete excision. The three patients with fourth pouch anomaly were treated with endoscopic assisted monopolar diathermy to the sinus opening with good outcome. Branchial anomalies are relatively common in children. There are three distinct types, first cleft, second cleft and fourth pouch anomaly. Correct diagnosis is essential to avoid inadequate surgery and multiple procedures. The surgical approach needs to be tailored to the type

A branchial cyst of the pyriform fossa transoral laser resection: a case report.

PubMed

Abdelfattah, Hesham Mostafa; Ahmed, Mohammed Elrabie; Ahmed, Mona El-Rabie; Ahmed, Mohamed Abd El-Kader; Moussa, Abd-Elmateen

2016-02-01

Pyriform sinus malformations represent rare third and fourth branchial anomalies. Fistulae at the latter site were initially described and make up less than 1 % of all brachial anomalies. They may be discovered incidentally, or may present as a neck mass with recurrent infection, dysphagia, or airway compromise, and can be an unusual cause of dysphonia in infant and children. Here, we present a case of third branchial cyst located in pharyngeal wall of the left pyriform sinus which presented with dysphonia since birth in a 6-year-old girl. Transoral CO2 laser excision was carried out successfully with no communicating tract. The patient's dysphonia showed progressive regression at 1-year follow-up. Third branchial cyst in the left pyriform sinus (Bailey's type IV) is an unusual cause of dysphonia in pediatric. Our present case report is the first brachial cyst to be reported in the pyriform fossa and the second branchial anomalies to be excised transorally with CO2 laser.

Intraoperative use of fibrin glue dyed with methylene blue in surgery for branchial cleft anomalies.

PubMed

Piccioni, Michela; Bottazzoli, Marco; Nassif, Nader; Stefini, Stefania; Nicolai, Piero

2016-09-01

We present a new method of optimizing the results of surgery for branchial cleft anomalies based on the intraoperative injection of fibrin glue combined with methylene blue dye. Retrospective single-center cohort study. The method was applied in 17 patients suffering from branchial anomalies. Six (35.29%) had a preauricular lesion; three (17.65%) had lesions derived from the first arch/pouch/groove (type I), four (23.53%) had lesions derived from the first (type II), one (5.88%) had lesions derived from the second, one (5.88%) had lesions derived from the third, and two (11.76%) had lesions derived from the fourth. The median and mean age at surgery were 10 and 10.6 years, respectively. All patients were followed by periodic clinical and ultrasonographic examination. The combination of fibrin glue with methylene blue facilitated the correct assessment of the extension of the lesions and their intraoperative manipulation. After a mean follow-up of 47.8 months, all patients were free of disease. Intraoperative injection of branchial fistulae and cysts by a mixture of fibrin glue and methylene blue is an effective, easy, and safe tool to track lesions and achieve radical resection. The technique requires a definitive validation on a large cohort with adequate stratification of patients. 4 Laryngoscope, 126:2147-2150, 2016. © 2015 The American Laryngological, Rhinological and Otological Society, Inc.

Cervical bronchogenic cysts in head and neck region.

PubMed

Ustundag, Emre; Iseri, Mete; Keskin, Gurkan; Yayla, Berna; Muezzinoglu, Bahar

2005-06-01

Congenital cysts of the neck are not uncommon. Most of these are thyroglossal, branchial cleft and thymic cysts. Bronchogenic cysts are uncommon developmental anomalies of the tracheobronchial tree and rarely occur in the neck. More than 70 cases of bronchogenic cysts in the head and neck region have been reported in the literature. We report three cases presenting with neck swelling in the hyoid region that were diagnosed as bronchogenic cysts based on clinical and histopathological findings.

First branchial cleft fistula presenting with internal opening on the Eustachian tube: Illustrated cases and literature review.

PubMed

Liu, Yuhe; Li, Tiancheng; Xue, Junfang; Jia, Jun; Xiao, Shuifang; Zhao, Enmin

2012-05-01

Two cases of first branchial cleft fistula with internal opening on the Eustachian tube are reported and the diagnosis, management and embryological hypothesis are discussed. Retrospective study and review of the literature. Both patients were young boys with first branchial cleft anomaly clearly identified by computed tomography fistulography scan and direct Methylene Blue dye injection. In both cases, surgical removal revealed a fistula with internal opening located on the Eustachian tube near the nasopharynx. The main embryological theories and classification are reviewed. A connection between the theories of first branchial apparatus development and the classification by Work might explain the reported clinical association. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Management of First Branchial Cleft Anomalies via a Cartilage-Splitting Technique.

PubMed

Schmidt, Richard; Conrad, David; Field, Erin; O'Reilly, Robert

2015-06-01

First branchial cleft anomalies are uncommon lesions that often present as periauricular infections. They have high recurrence rates, due in part to scarring secondary to prior infections and their management. These lesions have a close relationship with the facial nerve, and most authors recommend its identification and dissection because of this relationship. Nonetheless, facial nerve palsy has been reported in up to 15% of cases. We describe a novel technique for the management of first branchial cleft anomalies. Such lesions that presented in an infra- or postauricular location were approached via an incision through the cartilage of the pinna, between the tragus and antitragus. This technique affords direct access to the lesion without the need for facial nerve dissection. Six patients were treated. Five had prior surgery, including 3 with previous attempts at excision. There were no complications. The median follow-up was 35 months. One patient developed a recurrence. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2015.

Novel presentation of a fourth branchial cleft anomaly in a male infant.

PubMed

Evans, Seth H; Marinello, Mark; Dodson, Kelley M

2010-01-01

Fourth branchial cleft anomalies are rare congenital disorders of the neck. We describe a case involving a unique presentation of this entity as well as a review of the literature concerning its management. Copyright (c) 2010 Elsevier Inc. All rights reserved.

Nasopharyngeal branchial cysts-diagnosis and management: a case series.

PubMed

Flis, Daniel W; Wein, Richard O

2013-02-01

Nasopharyngeal branchial cysts (NBCs) have been discussed in the literature in only a limited number of publications. Differing from Tornwaldt cysts, NBCs present laterally and arise from the fossa of Rosenmuller and may track superiorly within the bony confines of the Eustachian tube. Initially patients are asymptomatic but may present with aural fullness, unilateral conductive hearing loss, and serous otitis media as the cyst mass grows. Two of our three patients had the lesion incidentally identified at the time of assessment for another diagnosis. In this case series, imaging characteristics and response to treatment are reviewed. A literature search was performed to summarize the management options for this entity.

Neonatal Presentation of an Air-Filled Neck Mass that Enlarges with Valsalva: A Case Report

PubMed Central

Patel, Jasminkumar Bharatbhai; Kilbride, Howard; Paulson, Lorien

2015-01-01

Branchial cleft cysts are common causes of congenital neck masses in the pediatric population. However, neonatal presentation of branchial cleft cysts is uncommon, but recognizable secondary to acute respiratory distress from airway compression or complications secondary to infection. We report a 1-day-old infant presenting with an air-filled neck mass that enlarged with Valsalva and was not associated with respiratory distress. The infant was found to have a third branchial cleft cyst with an internal opening into the pyriform sinus. The cyst was conservatively managed with endoscopic surgical decompression and cauterization of the tract and opening. We review the embryology of branchial cleft cysts and current management. PMID:26495186

Multidetector computerized tomographic fistulography in the evaluation of congenital branchial cleft fistulae and sinuses.

PubMed

Sun, Zhipeng; Fu, Kaiyuan; Zhang, Zuyan; Zhao, Yanping; Ma, Xuchen

2012-05-01

The aim of this study was to primarily investigate the usefulness of computerized tomographic (CT) fistulography in the diagnosis and management of branchial cleft fistulae and sinuses. Fifteen patients with confirmed branchial fistulae or sinuses who had undergone CT fistulography were included. The diagnoses were confirmed by clinical, radiologic, or histopathologic examinations. The internal openings, distribution, and neighboring relationship of the lesions presented by CT fistulography were analyzed to evaluate the usefulness in comparison with x-ray fistulography. Nine patients were diagnosed with first branchial fistulae or sinuses, 2 with second branchial fistulae, and 4 with third or fourth branchial fistulae. The presence and location of the lesions could be seen on x-ray fistulography. The distribution of the lesions, internal openings, and neighboring relationship with parotid gland, carotid sheath, and submandibular gland could be clearly demonstrated on CT cross-sectional or volume-rendering images. CT fistulography could provide valuable information and benefit surgical planning by demonstrating the courses of branchial anomalies in detail. Copyright © 2012 Elsevier Inc. All rights reserved.

Fourth branchial cleft anomaly: management strategy in acute presentation.

PubMed

Carta, Filippo; Sionis, Sara; Mascia, Luigi; Puxeddu, Roberto

2014-09-01

Branchial malformations are common congenital head and neck lesions usually diagnosed in childhood during the first decade of life. Acute presentation is usually managed with conservative protocols before a definitive surgical procedure although the risk of life-treating septic complications may influence the physician's decision. Surgery is the treatment of choice with the removal of the lesion alone, nevertheless more aggressive approaches must be considered in complicated cases. Selective neck dissection including the removal of part of the thyroid lobe with the congenital lesion should be considered as the "ultima ratio" treatment to avoid recurrence. We reviewed literature and report our experience concerning two patients with fourth branchial cleft sinus. A three-year-old child with a clinical history of recurrent neck abscess was referred to our department after several drainages performed in another centre. A three-year-old child referred to our department for a left side lower primary neck abscess. In both cases the diagnosis of a complicated fourth cleft remnant was confirmed by rigid endoscopic visualization of the mucosal orifice of the sinus in the pyriform fossa. Surgical management during acute presentation was challenging; in one patient the early fasciitis required an emergency procedure to remove the infected sinus that were strictly adherent to the deep vascular-nervous axis. Surgery was the definitive treatment in both cases and at 12 and 25 months follow-up respectively no recurrences were observed. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Congenital cervical cysts, sinuses, and fistulae in pediatric surgery.

PubMed

LaRiviere, Cabrini A; Waldhausen, John H T

2012-06-01

Congenital cervical anomalies are essential to consider in the clinical assessment of head and neck masses in children and adults. These lesions can present as palpable cystic masses, infected masses, draining sinuses, or fistulae. Thyroglossal duct cysts are most common, followed by branchial cleft anomalies and dermoid cysts. Other lesions reviewed include median ectopic thyroid, cervical teratomas, and midline cervical clefts. Appropriate diagnosis and management of these lesions requires a thorough understanding of their embryology and anatomy. Correct diagnosis, resolution of infectious issues before definitive therapy, and complete surgical excision are imperative in the prevention of recurrence. Copyright © 2012 Elsevier Inc. All rights reserved.

Surgical Approaches to First Branchial Cleft Anomaly Excision: A Case Series.

PubMed

Quintanilla-Dieck, Lourdes; Virgin, Frank; Wootten, Chistopher; Goudy, Steven; Penn, Edward

2016-01-01

Objectives. First branchial cleft anomalies (BCAs) constitute a rare entity with variable clinical presentations and anatomic findings. Given the high rate of recurrence with incomplete excision, identification of the entire tract during surgical treatment is of paramount importance. The objectives of this paper were to present five anatomic variations of first BCAs and describe the presentation, evaluation, and surgical approach to each one. Methods. A retrospective case review and literature review were performed. We describe patient characteristics, presentation, evaluation, and surgical approach of five patients with first BCAs. Results. Age at definitive surgical treatment ranged from 8 months to 7 years. Various clinical presentations were encountered, some of which were atypical for first BCAs. All had preoperative imaging demonstrating the tract. Four surgical approaches required a superficial parotidectomy with identification of the facial nerve, one of which revealed an aberrant facial nerve. In one case the tract was found to travel into the angle of the mandible, terminating as a mandibular cyst. This required en bloc excision that included the lateral cortex of the mandible. Conclusions. First BCAs have variable presentations. Complete surgical excision can be challenging. Therefore, careful preoperative planning and the recognition of atypical variants during surgery are essential.

Surgical Approaches to First Branchial Cleft Anomaly Excision: A Case Series

PubMed Central

Quintanilla-Dieck, Lourdes; Virgin, Frank; Wootten, Chistopher; Goudy, Steven; Penn, Edward

2016-01-01

Objectives. First branchial cleft anomalies (BCAs) constitute a rare entity with variable clinical presentations and anatomic findings. Given the high rate of recurrence with incomplete excision, identification of the entire tract during surgical treatment is of paramount importance. The objectives of this paper were to present five anatomic variations of first BCAs and describe the presentation, evaluation, and surgical approach to each one. Methods. A retrospective case review and literature review were performed. We describe patient characteristics, presentation, evaluation, and surgical approach of five patients with first BCAs. Results. Age at definitive surgical treatment ranged from 8 months to 7 years. Various clinical presentations were encountered, some of which were atypical for first BCAs. All had preoperative imaging demonstrating the tract. Four surgical approaches required a superficial parotidectomy with identification of the facial nerve, one of which revealed an aberrant facial nerve. In one case the tract was found to travel into the angle of the mandible, terminating as a mandibular cyst. This required en bloc excision that included the lateral cortex of the mandible. Conclusions. First BCAs have variable presentations. Complete surgical excision can be challenging. Therefore, careful preoperative planning and the recognition of atypical variants during surgery are essential. PMID:27034873

Relation between a first branchial cleft anomaly and the facial nerve.

PubMed

Guo, Yu-Xing; Guo, Chuan-Bin

2012-04-01

Relations between first branchial cleft anomalies and the facial nerve vary. We reviewed 41 patients' medical records and pathological sections to clarify the relation, and found that those on the right side in young patients, which were Work type II and situated low down, were likely to be deep to the facial nerve. Copyright © 2011 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

Branchial cysts within the parotid salivary gland

PubMed Central

2012-01-01

Cystic lesions within the parotid gland are uncommon and clinically they are frequently misdiagnosed as tumours. Many theories have been proposed as to their embryological origin. A 20-year retrospective review was undertaken of all pathological codes (SNOMED) of all of patients presenting with any parotid lesions requiring surgery. After analysis seven subjects were found to have histopathologically proven parotid branchial cysts in the absence of HIV infection and those patients are the aim of this review. Four of the most common embryological theories are also discussed with regard to these cases, as are their management. PMID:22607735

Differentiation between Cystic Pituitary Adenomas and Rathke Cleft Cysts: A Diagnostic Model Using MRI.

PubMed

Park, M; Lee, S-K; Choi, J; Kim, S-H; Kim, S H; Shin, N-Y; Kim, J; Ahn, S S

2015-10-01

Cystic pituitary adenomas may mimic Rathke cleft cysts when there is no solid enhancing component found on MR imaging, and preoperative differentiation may enable a more appropriate selection of treatment strategies. We investigated the diagnostic potential of MR imaging features to differentiate cystic pituitary adenomas from Rathke cleft cysts and to develop a diagnostic model. This retrospective study included 54 patients with a cystic pituitary adenoma (40 women; mean age, 37.7 years) and 28 with a Rathke cleft cyst (18 women; mean age, 31.5 years) who underwent MR imaging followed by surgery. The following imaging features were assessed: the presence or absence of a fluid-fluid level, a hypointense rim on T2-weighted images, septation, an off-midline location, the presence or absence of an intracystic nodule, size change, and signal change. On the basis of the results of logistic regression analysis, a diagnostic tree model was developed to differentiate between cystic pituitary adenomas and Rathke cleft cysts. External validation was performed for an additional 16 patients with a cystic pituitary adenoma and 8 patients with a Rathke cleft cyst. The presence of a fluid-fluid level, a hypointense rim on T2-weighted images, septation, and an off-midline location were more common with pituitary adenomas, whereas the presence of an intracystic nodule was more common with Rathke cleft cysts. Multiple logistic regression analysis showed that cystic pituitary adenomas and Rathke cleft cysts can be distinguished on the basis of the presence of a fluid-fluid level, septation, an off-midline location, and the presence of an intracystic nodule (P = .006, .032, .001, and .023, respectively). Among 24 patients in the external validation population, 22 were classified correctly on the basis of the diagnostic tree model used in this study. A systematic approach using this diagnostic tree model can be helpful in distinguishing cystic pituitary adenomas from Rathke cleft cysts

Spontaneous alteration from Rathke's cleft cyst to craniopharyngioma--possible involvement of transformation between these pathologies.

PubMed

Ogawa, Yoshikazu; Watanabe, Mika; Tominaga, Teiji

2014-12-01

Both Rathke's cleft cyst and craniopharyngioma are considered to arise from the remnants of Rathke's diverticulum despite the quite different histological characteristics. These two lesions may consist of a disease spectrum extending from Rathke's cleft cyst to craniopharyngioma. However, in spite of increasing evidence of these intermediate histologies, very few cases of the actual transformation from Rathke's cleft cyst to craniopharyngioma have been reported in the same patient. A 47-year-old man suffered from recurrent visual dysfunction. Aspiration and partial cystectomy was performed to a suprasellar massive cystic lesion. The histological diagnosis was Rathke's cleft cyst with a small component of squamous metaplasia. Seven months later, the cyst was re-expanded. The cyst wall was irregularly thickened. Re-operation was performed, and the thickened anterior wall was widely removed. Postoperative histological examination showed multiplication of stratified squamous epithelia forming a papillary arrangement. Ki-67 staining showed positive cells randomly distributed not only in the basal layer but also in various epithelial layers, with a labeling index of more than 20 %. The histological diagnosis was squamous papillary type of craniopharyngioma with high potential of proliferation. Subsequent immunohistochemical examinations showed positive reaction to cytokeratin 8 only in the initial epithelium and negative in the latter epithelium. The present case was thought as an actual evidence of the proposed link between Rathke's cleft cyst and craniopharyngioma. Cytokeratin 8 could be the important examination to differentiate Rathke's cleft cyst from craniopharyngioma.

Fourth branchial anomaly presenting with a lateral neck mass in a neonate.

PubMed

Yoo, Tae-Kyung; Kim, Soo-Hong; Kim, Ha-Shin; Kim, Hyun-Young; Park, Kwi-Won

2014-01-01

Branchial cleft anomalies are an important differential diagnosis in congenital neck masses in infants. The third and fourth branchial anomalies are rare branchial cleft anomalies, which are hard to differentiate. We report here an uncommon case of the fourth branchial anomaly that was presented as an asymptomatic neck mass in a neonate.

Fourth Branchial Anomaly Presenting with a Lateral Neck Mass in a Neonate

PubMed Central

Yoo, Tae-Kyung; Kim, Soo-Hong; Kim, Ha-Shin; Park, Kwi-Won

2014-01-01

Branchial cleft anomalies are an important differential diagnosis in congenital neck masses in infants. The third and fourth branchial anomalies are rare branchial cleft anomalies, which are hard to differentiate. We report here an uncommon case of the fourth branchial anomaly that was presented as an asymptomatic neck mass in a neonate. PMID:26023505

A Case of First Branchial Cleft Fistula Presenting with an External Opening on the Root of the Helical Crus

PubMed Central

2018-01-01

Background First branchial cleft anomalies (FBCA) are rare clinical entities of the head and neck. Typically, the tract of the FBCA begins in the external auditory canal and ends in the postauricular or submandibular region. Case Presentation We present a case of a 23-year-old man who had a first branchial cleft fistula with atypical opening on the root of the helical crus. Complete excision of the tract, including the cuff of surrounding cartilage, was performed. Histopathology revealed a fistular tract lined with squamous epithelium. To our knowledge, this is the first case to be reported of type I FBCA with an opening on the root of the helical crus. The low incidence and varied presentation often result in misdiagnosis and inappropriate treatment. Conclusions In the patients with FBCA, careful recognition of atypical variants is essential for complete excision. PMID:29560006

First branchial cleft anomalies: presentation, variability and safe surgical management.

PubMed

Magdy, Emad A; Ashram, Yasmine A

2013-05-01

First branchial cleft (FBC) anomalies are uncommon. The aim of this retrospective clinical study is to describe our experience in dealing with these sporadically reported lesions. Eighteen cases presenting with various FBC anomalies managed surgically during an 8-year period at a tertiary referral medical institution were included. Ten were males (56 %) and eight females (44 %) with age range 3-18 years. Anomaly was right-sided in 12 cases (67 %). None were bilateral. Nine patients (50 %) had prior abscess incision and drainage procedures ranging from 1 to 9 times. Two also had previous unsuccessful surgical excisions. Clinical presentations included discharging tract openings in external auditory canal/conchal bowl (n = 9), periauricular (n = 6), or upper neck (n = 4); cystic postauricular, parotid or upper neck swellings (n = 5); and eczematous scars (n = 9). Three distinct anatomical types were encountered: sinuses (n = 7), fistulas (n = 6), and cysts (n = 5). Complete surgical excision required superficial parotidectomy in 11 patients (61 %). Anomaly was deep to facial nerve (FN) in three cases (17 %), in-between its branches in two (11 %) and superficial (but sometimes adherent to the nerve) in remaining cases (72 %). Continuous intraoperative electrophysiological FN monitoring was used in all cases. Two cases had postoperative temporary lower FN paresis that recovered within 2 months. No further anomaly manifestation was observed after 49.8 months' mean postoperative follow-up (range 10-107 months). This study has shown that awareness of different presentations and readiness to identify and protect FN during surgery is essential for successful management of FBC anomalies. Intraoperative electrophysiological FN monitoring can help in that respect.

Transoral robotic surgery-assisted excision of a congenital cervical salivary duct fistula presenting as a branchial cleft fistula.

PubMed

Rassekh, Christopher H; Kazahaya, Ken; Livolsi, Virginia A; Loevner, Laurie A; Cowan, Andy T; Weinstein, Gregory S

2016-02-01

Congenital cervical salivary duct fistulae are rare entities and can mimic branchial cleft fistulae. Ectopic salivary tissue associated with these pharyngocervical tracts may have malignant potential. We present a case report of a novel surgical approach and review of the literature. A 27-year-old man presented with complaint of drainage from the right side of his neck since early childhood. A tract was found from the posterior tonsillar pillar into the neck and ectopic salivary tissue was found along the tract. A congenital hearing loss was also present. Transoral robotic (TORS)-assisted surgery was used in the management of this patient and allowed excellent visualization of the pharyngeal component of the lesion and a minimally invasive approach. The patient did well with no recurrence. TORS was helpful for management of a congenital salivary fistula and may be helpful for branchial cleft fistulae. These lesions may be associated with the branchio-oto-renal (BOR) syndrome. © 2015 Wiley Periodicals, Inc.

Branchial anomalies in the pediatric population.

PubMed

Schroeder, James W; Mohyuddin, Nadia; Maddalozzo, John

2007-08-01

We sought to review the presentation, evaluation, and treatment of branchial anomalies in the pediatric population and to relate these findings to recurrences and complications. We conducted a retrospective study at a tertiary care pediatric hospital. Ninety-seven pediatric patients who were treated for branchial anomalies over a 10-year period were reviewed. Patients were studied if they underwent surgical treatment for the branchial anomaly and had 1 year of postoperative follow-up; 67 children met criteria, and 74 anomalies were studied. Patients with cysts presented at a later age than did those with branchial anomaly fistulas or sinus branchial anomalies. 32% of branchial anomalies were previously infected. Of these, 71% had more than one preoperative infection. 18% of the BA were first arch derivatives, 69% were second arch derivatives and 7% were third arch derivatives. There were 22 branchial cysts, 31 branchial sinuses and 16 branchial fistulas. The preoperative and postoperative diagnoses differed in 17 cases. None of the excised specimens that contained a cystic lining recurred; all five recurrences had multiple preoperative infections. Recurrence rates are increased when there are multiple preoperative infections and when there is no epithelial lining identified in the specimen.

[Selective neck dissection for treating recurrent branchial anomalies].

PubMed

Chen, Liangsi; Song, Xinhan; Zhang, Siyi; Han, Zhijuan; Luo, Xiaoning; Chen, Shaohua; Zhan, Jiandong

2011-01-01

To evaluate the role of selective neck dissection in the treatment of recurrent branchial anomalies. The clinical data of 18 patients with recurrent branchial anomalies were retrospectively analyzed. In accordance with the embryologic and anatomic features of branchial anomalies, different types of selective neck dissection were applied. With dissection and protection of important vessels, nerves and other structures, enbloc resection principles were applied to extirpate branchial lesions, scarrings and inflammatory granuloma during the operation. Of all 18 patients, 16 cases were healed with primary healing, 2 cases with local incision infection were healed after dressing changes. A temporary facial nerve paralysis occurred in 1 case with recurrent first branchial cleft fistula postoperatively, and completely recovered 2 months after operation. A postoperative temporary vocal cord paralysis occurred in 1 case with recurrent fourth branchial cleft fistula, and totally recuperated 1 month after operation. No recurrences were found in all 18 cases with a follow-up period of 12-78 months (average 35 months). Selective neck dissection is a safe and effective surgical procedure for the radical treatment of recurrent branchial anomalies.

Unusual association of congenital middle ear cholesteatoma and first branchial cleft anomaly: management and embryological concepts.

PubMed

Nicollas, R; Tardivet, L; Bourlière-Najean, B; Sudre-Levillain, I; Triglia, J M

2005-02-01

To report two cases of an undescribed association of first branchial cleft fistula and middle ear congenital cholesteatoma and to discuss management and embryological hypothesis. Retrospective study and review of the literature Both patients were young girls free of past medical or surgical history. Surgical removal of the first cleft anomaly found in the two cases a fistula routing underneath the facial nerve. Both cholesteatomas were located in the hypotympanum, mesotympanum. In one case, an anatomical link between the two malformations was clearly identified with CT scan. The main embryological theories and classification are reviewed. A connection between Aimi's and Michaels' theories (congenital cholesteatoma) and Work classification might explain the reported clinical association.

A Type-II First Branchial Cleft Anomaly Presenting as a Post-Auricular Salivary Fistula: A Rare Presentation.

PubMed

Jain, S; Deshmukh, Pt; Gupta, M; Shukla, S

2014-01-01

First branchial cleft anomalies are rare with the average age of presentation as 19 years. There is an average delay of 3.5 years between initial presentation and adequate treatment due to diagnostic dilemma. A very rare variant of first branchial cleft anomaly presenting as a post-auricular salivary fistula is reported. A 12-year-old girl presented with a history of intermittent watery discharge, more so at the time of meals from a right post-auricular opening for last 3 years. Computed tomography sialography revealed a fistulous tract connecting the sub segmental duct of the parotid gland extending along the pre-tragus region in subcutaneous plane up to mastoid tip after passing inferior to external auditory canal. Superficial parotidectomy with identification of facial nerve branches was carried out for excision of the tract. Histopathology revealed sinus tract comprising of ectodermal components and acini of the parotid gland. We classified our case into work's type-2 based on anatomical location at an angle of mandible, its relationship to parotid gland and facial nerve and previous history of ear discharge. To the best of our knowledge, this is the first case of its type to be reported.

A Type-II First Branchial Cleft Anomaly Presenting as a Post-Auricular Salivary Fistula: A Rare Presentation

PubMed Central

Jain, S; Deshmukh, PT; Gupta, M; Shukla, S

2014-01-01

First branchial cleft anomalies are rare with the average age of presentation as 19 years. There is an average delay of 3.5 years between initial presentation and adequate treatment due to diagnostic dilemma. A very rare variant of first branchial cleft anomaly presenting as a post-auricular salivary fistula is reported. A 12-year-old girl presented with a history of intermittent watery discharge, more so at the time of meals from a right post-auricular opening for last 3 years. Computed tomography sialography revealed a fistulous tract connecting the sub segmental duct of the parotid gland extending along the pre-tragus region in subcutaneous plane up to mastoid tip after passing inferior to external auditory canal. Superficial parotidectomy with identification of facial nerve branches was carried out for excision of the tract. Histopathology revealed sinus tract comprising of ectodermal components and acini of the parotid gland. We classified our case into work's type-2 based on anatomical location at an angle of mandible, its relationship to parotid gland and facial nerve and previous history of ear discharge. To the best of our knowledge, this is the first case of its type to be reported. PMID:24669347

Recurrent branchial sinus tract with aberrant extension.

PubMed

Barret, J P

2004-01-01

Second branchial cysts are the commonest lesions among congenital lateral neck anomalies. Good knowledge of anatomy and embryology are necessary for proper treatment. Surgical treatment involves resection of all branchial remnants, which extend laterally in the neck, medial to the sternocleidomastoid muscle with cranial extension to the pharynx and ipsilateral tonsillar fosa. However, infections and previous surgery can distort anatomy, making the approach to branchial anomalies more difficult. We present a case of a 17-year-old patient who presented with a second branchial tract anomaly with an aberrant extension to the midline and part of the contralateral neck. Previous surgical interventions and chronic infections may have been the primary cause for this aberrant tract. All head and neck surgeons should bear in mind that aberrant presentations may exist when reoperating on chronic branchial cysts fistulas.

Congenital cutaneous fistula at the sternoclavicular joint - Not a dermoid fistula but the remnant of the fourth branchial (pharyngeal) cleft ?

PubMed

Ohno, Michinobu; Kanamori, Yutaka; Tomonaga, Kotaro; Yamashita, Tatsuya; Migita, Misato; Takezoe, Toshiko; Watanabe, Toshihiko; Fuchimoto, Yasushi; Matsuoka, Kentaro

2015-12-01

A fourth branchial pouch remnant is well known as a pyriform sinus fistula. However, there has been no report of a fistula composed of the complete remnant of the fourth branchial apparatus. We experienced patients with a congenital lower neck cutaneous fistula which was thought to be the skin-side remnant of the fourth branchial cleft. Seven children were referred to our hospital from 2009 to 2015 for the treatment of a cutaneous fistula situated near the sternoclavicular joint. All of them were surgically resected and their pathological characteristics were examined. Clinical charts were retrospectively reviewed. In six cases, the left side was affected. All cutaneous fistulas had a small skin orifice near the sternoclavicular joint and they were situated at the anterior edge of the sternocleidomastoid muscle. Abscess formation was seen in four cases. Surgical resection was performed at the age of 6 months to 9 years. These fistulas ran deep into the subcutaneous tissue and had a blind end. Pathological examination showed that the epithelial layer was mainly composed of a stratified squamous epithelium. In two cases the epithelium was composed of ciliated columnar epithelium. Recurrence has not been observed in any of the cases. The seven cases had a common clinical feature and were a definite clinical entity. Judging from the characteristics of our cases and the previous literature, we concluded that this lower neck cutaneous fistula was most likely a congenital skin-side remnant of the fourth branchial cleft. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Second Branchial Anomalies: A Study of 94 Cases.

PubMed

Kalra, Vijay Kumar; Rattan, Kamal Nain; Yadav, Samar Pal Singh; Bhukar, Sandeep; Dheeraj, S

2017-12-01

Ninety-four patients with second branchial anomalies were retrospectively analysed at a tertiary care centre from January 2006 to September 2016 to determine the demographical data and management. Branchial sinus and fistula presented earlier as compared to branchial cyst. The mean age at presentation in case of branchial sinuses, fistulae and cysts was 5.07, 5.79 and 7.31 years respectively. There was preponderance in males as compared to females, more so in bilateral cases. Male to female sex ratio was 2.91:1. The branchial fistulae were the most common type of lesions, followed by the branchial sinuses. The branchial anomalies were more on the right side (65.96%) probably due to right handedness of the population. Only eight patients (8.51%) had bilateral anomalies. Four patients had familial association, it was seen in bilateral cases and they presented earlier than unilateral cases. Early and complete surgical excision is the treatment of choice. Preoperative sinogram/fistulogram and intraoperative methylene blue dye injection is not mandatory for excision of a branchial sinus/fistula. Post-operative wound infection was the most common complication (4.25%).

First branchial groove anomaly.

PubMed

Kumar, M; Hickey, S; Joseph, G

2000-06-01

First branchial groove anomalies are very rare. We report a case of a first branchial groove anomaly presented as an infected cyst in an 11-month-old child. Management of such lesions is complicated because of their close association with the facial nerve. Surgical management must include identification and protection of the facial nerve. Embryology and facial nerve disposition in relation to the anomaly are reviewed.

[Relationship between Work Ⅱ type of congenital first branchial cleft anomaly and facial nerve and surgical strategies].

PubMed

Zhang, B; Chen, L S; Huang, S L; Liang, L; Gong, X X; Wu, P N; Zhang, S Y; Luo, X N; Zhan, J D; Sheng, X L; Lu, Z M

2017-10-07

Objective: To investigate the relationship between Work Ⅱ type of congenital first branchial cleft anomaly (CFBCA) and facial nerve and discuss surgical strategies. Methods: Retrospective analysis of 37 patients with CFBCA who were treated from May 2005 to September 2016. Among 37 cases with CFBCA, 12 males and 25 females; 24 in the left and 13 in the right; the age at diagnosis was from 1 to 76 ( years, with a median age of 20, 24 cases with age of 18 years or less and 13 with age more than 18 years; duration of disease ranged from 1 to 10 years (median of 6 years); 4 cases were recurren after fistula resection. According to the classification of Olsen, all 37 cases were non-cyst (sinus or fistula). External fistula located over the mandibular angle in 28 (75.7%) cases and below the angle in 9 (24.3%) cases. Results: Surgeries were performed successfully in all the 37 cases. It was found that lesions located at anterior of the facial nerve in 13 (35.1%) cases, coursed between the branches in 3 cases (8.1%), and lied in the deep of the facial nerve in 21 (56.8%) cases. CFBCA in female with external fistula below mandibular angle and membranous band was more likely to lie deep of the facial nerve than in male with external fistula over the mandibular angle but without myringeal web. Conclusions: CFBCA in female patients with a external fistula located below the mandibular angle, non-cyst of Olsen or a myringeal web is more likely to lie deep of the facial nerve. Surgeons should particularly take care of the protection of facial nerve in these patients, if necessary, facial nerve monitoring technology can be used during surgery to complete resection of lesions.

First branchial cleft anomalies in children: Experience with 30 cases.

PubMed

Li, Wanpeng; Zhao, Liming; Xu, Hongming; Li, Xiaoyan

2017-07-01

First branchial cleft anomalies (FBCA) are rare in the clinical setting, as they account for 1 to 8% of all branchial abnormalities. The purpose of this study is to explore the relationship between the fistula tract and facial nerve and the surgical method of FBCA. This retrospective study included 30 cases of FBCA in children managed from 2009 to 2016. All patients underwent surgery to remove the tract of the FBCA. We reviewed the clinical data of the patients to obtain their demographics and management. Thirty patients (11 male and 19 female) with anomalies of FBCA were diagnosed. The ages ranged from 1 to 13 years (median, 3 years). Twenty cases had a close relationship with the parotid gland. The facial nerve was identified in 20 of the 30 patients. The tract ran deep to the facial nerve in 3 cases, superficial to it in 21 cases, and passed between the branches of the nerve in 6 cases. The facial nerve was not identified in ten patients, as the tract was superficial to it. There were 2 cases of postoperative temporary facial paralysis (2/30, 6.7%). The symptoms gradually improved after one month, 1 case had permanent facial paralysis (1/30, 3.3%), and 1 case had postoperative recurrence. Complete excision of the tract is the only way to manage FBCA, and the course of the tracts vary and have different relationships with the facial nerve. There are 3 types: Superficial, deep to the facial nerve, and between the branches of the nerve. Therefore, surgical approaches differ among the various types, and careful preoperative planning and protecting the facial nerve during resection of the tract are essential.

Rathke cleft cyst in seven-year-old girl presenting with central diabetes insipidus and review of literature.

PubMed

Evliyaoglu, Olcay; Evliyaoglu, Cetin; Ayva, Sebnem

2010-05-01

Rathke cleft cysts (RCC) are benign cysts derived from remnants of Rathke cleft, and are rarely symptomatic in children. Symptoms due to RCC are associated with mass effect and pituitary hormone deficiencies. Slow growth rate of the cyst makes its incidence increase with aging. Here we report on a seven-year-old girl who presented with central diabetes insipidus (CDI). Her sella MRI revealed a lesion in the sellar region which grew rapidly in follow-up. She underwent microneurosurgical operation and the lesion was totally excised. Pathologic examination revealed RCC with degenerative changes. In her follow-up, growth hormone deficiency developed in addition to arginine vasopressin deficiency. Rapid growth of the cyst is not the usual course of RCC's. Mechanisms regarding the cyst growth are unclear as they are in this case. This is the youngest child to date presenting with central diabetes insipidus due to RCC. Rapid growth of RCC can cause CDI in young children.

Thyroidal abscesses in third and fourth branchial anomalies: not only a paediatric diagnosis.

PubMed

Kruijff, Schelto; Sywak, Mark S; Sidhu, Stan B; Shun, Albert; Novakovic, Daniel; Lee, James C; Delbridge, Leigh W

2015-01-01

Acute suppurative thyroiditis and recurrent abscess formation due to third and fourth branchial anomalies typically present in children. However, thyroid abscesses in branchial anomalies may occur in adulthood as well. Failure to recognize and delayed drainage of a neck abscess may lead to a fulminant life-threatening outcome. This is a retrospective case series. The study group comprised all patients presenting over a 12-month period from January to December 2012 with thyroid abscesses and a branchial cleft anomaly in two centres, one adult and the other paediatric. Patient demographics, clinical presentation, imaging, surgical management, definitive histology and outcomes were documented. Five patients were identified with a history of thyroid abscesses. Only one was a child (aged 9 years) with the other four being adults (aged 20, 34, 37 and 41 years). All patients had third or fourth left branchial cleft anomalies, presenting as suppurative thyroiditis with a left-sided thyroid abscess. Management options ranged from abscess drainage on initial presentation, primary thyroid lobectomy or delayed thyroid lobectomy following abscess drainage. Acute suppurative thyroidits and thyroid abscesses is not just a paediatric diagnosis but may present at any age. In both children and adults, a thyroid abscess almost always arises from branchial cleft anomalies. © 2014 Royal Australasian College of Surgeons.

A rare case of complete second arch branchial fistula in a 7-year-old child.

PubMed

Shankar, Venkateswara Gomathi; Babu, Thirunavukkarasu Arun; Swami, Hartimath Basavanand

2012-07-01

Branchial fistulae are formed due to the abnormal persistence of the embryonic branchial clefts. Complete branchial fistula with internal and external opening is extremely rare. We report a rare case of complete second arch branchial fistulae in a 7-year-old boy, which was confirmed by a fistulogram. The tract was completely excised and the patient was successfully treated.

First branchial cleft anomalies in children: Experience with 30 cases

PubMed Central

Li, Wanpeng; Zhao, Liming; Xu, Hongming; Li, Xiaoyan

2017-01-01

First branchial cleft anomalies (FBCA) are rare in the clinical setting, as they account for 1 to 8% of all branchial abnormalities. The purpose of this study is to explore the relationship between the fistula tract and facial nerve and the surgical method of FBCA. This retrospective study included 30 cases of FBCA in children managed from 2009 to 2016. All patients underwent surgery to remove the tract of the FBCA. We reviewed the clinical data of the patients to obtain their demographics and management. Thirty patients (11 male and 19 female) with anomalies of FBCA were diagnosed. The ages ranged from 1 to 13 years (median, 3 years). Twenty cases had a close relationship with the parotid gland. The facial nerve was identified in 20 of the 30 patients. The tract ran deep to the facial nerve in 3 cases, superficial to it in 21 cases, and passed between the branches of the nerve in 6 cases. The facial nerve was not identified in ten patients, as the tract was superficial to it. There were 2 cases of postoperative temporary facial paralysis (2/30, 6.7%). The symptoms gradually improved after one month, 1 case had permanent facial paralysis (1/30, 3.3%), and 1 case had postoperative recurrence. Complete excision of the tract is the only way to manage FBCA, and the course of the tracts vary and have different relationships with the facial nerve. There are 3 types: Superficial, deep to the facial nerve, and between the branches of the nerve. Therefore, surgical approaches differ among the various types, and careful preoperative planning and protecting the facial nerve during resection of the tract are essential. PMID:28672934

Distinct patterns of primary and motile cilia in Rathke's cleft cysts and craniopharyngioma subtypes.

PubMed

Coy, Shannon; Du, Ziming; Sheu, Shu-Hsien; Woo, Terri; Rodriguez, Fausto J; Kieran, Mark W; Santagata, Sandro

2016-12-01

Cilia are highly conserved organelles, which serve critical roles in development and physiology. Motile cilia are expressed in a limited range of tissues, where they principally regulate local extracellular fluid dynamics. In contrast, primary cilia are expressed by many vertebrate cell types during interphase, and are intimately involved in the cell cycle and signal transduction. Notably, primary cilia are essential for vertebrate hedgehog pathway activity. Improved detection of motile cilia may assist in the diagnosis of some pathologic entities such as Rathke's cleft cysts, whereas characterizing primary cilia in neoplastic tissues may implicate cilia-dependent signaling pathways as critical for tumorigenesis. We show that immunohistochemistry for the nuclear transcription factor FOXJ1, a master regulator of motile ciliogenesis, robustly labels the motile ciliated epithelium of Rathke's cleft cysts. FOXJ1 expression discriminates Rathke's cleft cysts from entities in the sellar/suprasellar region with overlapping histologic features such as craniopharyngiomas. Co-immunohistochemistry for FOXJ1 and markers that highlight motile cilia such as acetylated tubulin (TUBA4A) and the small GTPase ARL13B further enhance the ability to identify diagnostic epithelial cells. In addition to highlighting motile cilia, ARL13B immunohistochemistry also robustly highlights primary cilia in formalin-fixed paraffin-embedded sections. Primary cilia are present throughout the neoplastic epithelium of adamantinomatous craniopharyngioma, but are limited to basally oriented cells near the fibrovascular stroma in papillary craniopharyngioma. Consistent with this differing pattern of primary ciliation, adamantinomatous craniopharyngiomas express significantly higher levels of SHH, and downstream targets such as PTCH1 and GLI2, compared with papillary craniopharyngiomas. In conclusion, motile ciliated epithelium can be readily identified using immunohistochemistry for FOXJ1, TUBA4A, and

A rare case of complete second arch branchial fistula in a 7-year-old child

PubMed Central

Shankar, Venkateswara Gomathi; Babu, Thirunavukkarasu Arun; Swami, Hartimath Basavanand

2012-01-01

Branchial fistulae are formed due to the abnormal persistence of the embryonic branchial clefts. Complete branchial fistula with internal and external opening is extremely rare. We report a rare case of complete second arch branchial fistulae in a 7-year-old boy, which was confirmed by a fistulogram. The tract was completely excised and the patient was successfully treated. PMID:23833506

Cervical Chondrocutaneous Branchial Remnants.

PubMed

Klockars, Tuomas; Kajosaari, Lauri

2017-03-01

  Cervical chondrocutaneous branchial remnants are rare malformations usually found in the lower neck. As high as 76% of patients have been reported to have associated anomalies. We review the literature and report a case series of seven patients with cervical cartilaginous remnants.   A retrospective case series of seven patients identified from the electronic hospital records.   Seven patients with cervical chondrocutaneous branchial remnants were identified (six boys and one girl). Only one of the patients had associated anomalies.   A review of the literature revealed no evidence for sinuses or cysts related to cervical chondrocutaneous branchial remnants. Operative treatment can be postponed to a suitable and safe age. There is marked variation in the reported prevalence of associated anomalies, ranging from 11% to 76%.

[Clinical characteristics and surgical management in patients with third and fourth branchial anomalies].

PubMed

Li, Y X; He, X G; Wang, Y; Yang, X

2016-08-05

Objective: To analysize the clinical characteristics as well as the effect and methods of the surgical treatment in patiets with the third and fourth branchial anomalies. Method: The clinical data of 25 patients diagnosed as third and fourth branchial cleft fistula by pathological method were analyzed retrospectively.Two of 25 patients had undergone fistulectomy simply.Based on the embryologicc and anatomic features of branchial anomalies,23 of 25 patients had received different types of selective neck dissection.All of lesions were confirmed as branchial cleft fistula by pathology.All patients were received the examinations of Esophagus myelography,MRI and CT preoperatively. Result: The features of the third and the fourth bianchial fistula were as following:most patients suffered from recurrent neck abscess and had undergone incision and drainage. Esophagus myelography and CT were important auxiliary examination for branchial anomalies.No recurrent and complications were found in all patients by using treatment of selective neck dissection (23/25 cases) and fistulectomy simply(2/25 cases) within 12 to 36 months following-up,postoperatively. Conclusion: Branchial anomalies is characterized by recurrent acute abscess,acute thyroiditis or fistula secretion inferior to neck.Complete removal of branchial lesions and inflammatory granuloma using selective neck dissection is a safty and effective treatment for recurrent branchial anomalies. Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.

Distinct Patterns of Primary and Motile Cilia in Rathke’s Cleft Cysts and Craniopharyngioma Subtypes

PubMed Central

Coy, Shannon; Du, Ziming; Sheu, Shu-Hsien; Woo, Terri; Rodriguez, Fausto J.; Kieran, Mark W.; Santagata, Sandro

2017-01-01

Cilia are highly conserved organelles which serve critical roles in development and physiology. Motile cilia are expressed in a limited range of tissues, where they principally regulate local extracellular fluid dynamics. In contrast, primary cilia are expressed by many vertebrate cell types during interphase, and are intimately involved in the cell cycle and signal transduction. Notably, primary cilia are essential for vertebrate hedgehog pathway activity. Improved detection of motile cilia may assist in the diagnosis of some pathologic entities such as Rathke’s cleft cysts while characterizing primary cilia in neoplastic tissues may implicate cilia-dependent signaling pathways as critical for tumorigenesis. We show that immunohistochemistry for the nuclear transcription factor FOXJ1, a master regulator of motile ciliogenesis, robustly labels the motile ciliated epithelium of Rathke’s cleft cysts. FOXJ1 expression discriminates Rathke’s cleft cysts from entities in the sellar/suprasellar region with overlapping histologic features such as craniopharyngiomas. Co-immunohistochemistry for FOXJ1 and markers that highlight motile cilia such as acetylated tubulin (TUBA4A) and the small GTPase ARL13B further enhance the ability to identify diagnostic epithelial cells. In addition to highlighting motile cilia, ARL13B immunohistochemistry also robustly highlights primary cilia in formalin-fixed paraffin-embedded sections. Primary cilia are present throughout the neoplastic epithelium of adamantinomatous craniopharyngioma, but are limited to basally oriented cells near the fibrovascular stroma in papillary craniopharyngioma. Consistent with this differing pattern of primary ciliation, adamantinomatous craniopharyngiomas express significantly higher levels of SHH, and downstream targets such as PTCH1 and GLI2, compared to papillary craniopharyngiomas. In conclusion, motile ciliated epithelium can be readily identified using immunohistochemistry for FOXJ1, TUBA4A and

A combined third and fourth branchial arch anomaly: clinical and embryological implications.

PubMed

Mehrzad, H; Georgalas, C; Huins, C; Tolley, N S

2007-08-01

Embryological abnormalities of the branchial apparatus present an interesting diagnostic and surgical challenge. Thymic cysts are a rare form of branchial apparatus anomaly, resulting from abnormal development of the third pharyngeal pouch. We present two cases of a thymic cyst coexisting with a non recurrent inferior laryngeal nerve (NRILN), two anomalies that to our knowledge have not been associated previously. A possible embryological explication for this double abnormality is discussed, while the clinical implications of this association are presented.

Silent internal sinus of the pyriform fossa: a rare adult manifestation of a branchial anomaly.

PubMed

Lin, Chao-Jung; Lin, Yaoh-Shiang; Kang, Bor-Hwang; Lee, Jin-Chin

2003-03-01

Branchial anomalies present with a wide range of pathologic characteristics, including cysts, fistulas, and sinuses of the head and neck region. Branchial cysts are most commonly diagnosed during the second through fourth decades of life, while branchial sinuses and fistulas are diagnosed almost exclusively in children with infection episodes. Only rarely has an internal sinus of a third or fourth branchial anomaly manifested in adults as a noninfectious swelling in the neck during swallowing. In this report, we describe our experience treating a 21-year-old man with a left-sided swallowing-induced neck protrusion of 10 years' duration. Findings of physical examination, videolaryngoscopy, and a pharyngoesophagogram confirmed the diagnosis of internal sinus of the pyriform fossa, with uncertain origin of a third or fourth branchial anomaly. The patient underwent regular follow-up as an outpatient and experienced no further infectious episodes.

Bilateral pharyngoceles (branchial cleft anomalies?) and endoscopic surgical considerations.

PubMed

Chang, Christopher Y; Furdyna, Julia A

2005-07-01

A case report of bilateral pharyngoceles without a history of elevated intrapharyngeal pressures is used to support the hypothesis that pharyngoceles may be an adult manifestation of an internal branchial sinus anomaly. The development of a pharyngocele from a branchial sinus origin would suggest a predictable relationship to the hypoglossal, glossopharyngeal, and superior laryngeal nerves, which may influence the choice of surgical approach (open versus endoscopic) and the counseling of patients who are considering surgical correction.

Management of pediatric second branchial fistulae: is tonsillectomy necessary?

PubMed

Cheng, Jeffrey; Elden, Lisa

2012-11-01

To describe the surgical management of second branchial fistulae that extend to the pharynx, specifically to determine whether tonsillectomy, along with surgical excision of the tract affects the rate of recurrence. Retrospective chart review of pediatric patients (age<18) who underwent surgical excision of second branchial anomalies at a tertiary-care children's hospital between January 1, 2006 and September 1, 2011. Sinus tracts that extended to the pharynx were considered to be fistulae. Seventy-four patients were identified who underwent surgical excision of 85 total second branchial anomalies - 20 cysts (23.5%), 29 sinuses (34.1%), and 36 fistulae (42.4%). The 36 fistulae were removed from 32 patients, 23 males and 9 females, with an average age of 43.3 months. There were 16 right, 11 left, and 5 bilateral lesions. In 14 (43.8%) of the fistulae cases, a tonsillectomy was performed. There was only one recurrence (2.8%), which occurred 41 months postoperatively. No statistically significant difference for recurrence (p=1.0) was found between the group of patients that underwent tonsillectomy and those that did not. Pediatric branchial anomalies can present as a cyst, sinus, or fistula. They are developmental failures in the involution of the branchial apparatus during the embryologic period. Management of second branchial anomalies is with surgical excision of the tract and ligation of the terminal attachment to the pharynx. Our results suggest that the recurrence rates are not affected by whether or not an ipsilateral tonsillectomy is performed. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Combined pituitary hormone deficiency in a girl with 48, XXXX and Rathke's cleft cyst.

PubMed

Uppal, Surabhi; Jee, Youn Hee; Lightbourne, Marissa; Han, Joan C; Stratakis, Constantine A

2017-01-01

Tetrasomy X is a rare chromosomal aneuploidy seen in girls, associated with facial dysmorphism, premature ovarian insufficiency and intellectual disability. A Rathke's cleft cyst (RCC) is a remnant of Rathke's pouch which may cause multiple pituitary hormone deficiencies by exerting pressure on the pituitary gland in the sella. The patient was diagnosed with tetrasomy X by karyotyping during infancy. Brain MRI and multiple endocrine stimulation tests revealed RCC and combined pituitary hormone deficiency (growth hormone deficiency, secondary adrenal insufficiency and central hypothyroidism) likely due to RCC. We report the first case in the literature of a girl with 48, XXXX and combined pituitary hormone deficiency due to Rathke's cyst.

Spectrum of lesions derived from branchial arches occurring in the thyroid: from solid cell nests to tumors.

PubMed

Srbecka, Kristyna; Michalova, Kvetoslava; Curcikova, Radmila; Michal, Michael; Dubova, Magdalena; Svajdler, Marian; Michal, Michal; Daum, Ondrej

2017-09-01

There is a group of lesions in the head and neck region derived from branchial arches and related structures which, when inflamed, are characterized by the formation of cysts lined by squamous or glandular epithelium and surrounded by a heavy inflammatory infiltrate rich in germinal centers. In the thyroid, the main source of various structures which may cause diagnostic dilemma is the ultimobranchial body. To investigate the spectrum of such thyroid lesions, the consultation files were reviewed for thyroid samples containing pathological structures regarded to arise from the ultimobranchial body. Positive reaction with antibodies against CK5/6, p63, galectin 3, and CEA, and negative reaction with antibodies against thyroglobulin, TTF-1, and calcitonin were used to confirm the diagnosis. The specific subtype of the ultimobranchial body-derived lesion was then determined based on histological examination of H&E-stained slides. Twenty-one cases of ultimobranchial body-derived lesions were retrieved from the consultation files, 20 of them along with clinical information (M/F = 6/14, mean age 55 years, range 36-68 years). Lesions derived from the ultimobranchial body were classified as follows: (hyperplastic) solid cell nests (nine cases), solid cell nests with focal cystic change (five cases), cystic solid cell nests (two cases), branchial cleft-like cyst (four cases), and finally a peculiar Warthin tumor-like lesion (one case). We suggest that the common denominator of these structures is that they all arise due to activation of inflammatory cells around the vestigial structures, which leads to cystic dilatation and proliferation of the epithelial component.

Fourth branchial complex anomalies: a case series.

PubMed

Shrime, Mark; Kacker, Ashutosh; Bent, John; Ward, Robert F

2003-11-01

Anomalies of the fourth branchial arch complex are exceedingly rare, with approximately forty cases reported in the literature since 1972. The authors report experience with six fourth arch anomalies. Retrospective chart review of six consecutive patients presenting to the pediatric otolaryngology service at a tertiary care center with anomalies referable to the fourth branchial arch. All six patients presented within the first or second decade of life. All six had left-sided disease. Four patients presented with recurrent neck infection, one with asymptomatic cervical masses, and one with a neck mass and respiratory compromise. One patient had prior surgery presented with a recurrence. Diagnosis of fourth arch anomalies was suggested or confirmed by computed tomography and flexible laryngoscopy. Treatment was surgical in five patients; one patient is awaiting surgery. Surgical procedures included resection of the mass and endoscopic cauterization of the inner opening of the cyst. The presentation of a cervical mass, especially with recurrent infections and especially on the left side, in a child in the first or second decade of life heightens suspicion for an anomaly of the fourth branchial arch. Diagnosis can be difficult, but is aided by the use of flexible laryngoscopy, Computed tomography (CT) scanning and ultrasonography. Surgical resection of the cyst and cauterization of its pyriform sinus opening should be undertaken to minimize recurrence.

Ten years of experience with third and fourth branchial remnants.

PubMed

Liberman, Moishe; Kay, Saundra; Emil, Sherif; Flageole, Hélène; Nguyen, Luong T; Tewfik, Ted L; Oudjhane, Kamal; Laberge, Jean-Martin

2002-05-01

Third and fourth branchial remnants may result in cysts and abscesses that are in close contact with the thyroid gland. These anomalies are rare and often present diagnostic and therapeutic challenges. The charts of patients diagnosed with a branchial anomaly between July 1991 and July 2001 at the Montreal Children's Hospital were reviewed. All cases of third and fourth branchial remnants or pyriform sinus fistulae were identified. Clinical presentation, imaging, treatment, and outcome were recorded. Eight patients with a third or fourth branchial anomaly were identified and ranged in age from birth to 13 years. All anomalies were left sided. Presenting symptoms consisted of an asymptomatic cervical mass (n = 1), an infected mass (n = 5), neonatal respiratory distress (n = 1), and 1 incidental cyst found on magnetic resonance imaging. Ultrasonography was useful in suggesting the diagnosis in 7 cases. Barium swallow was performed in 3 patients with 2 positive results. Pharyngoscopy results showed the internal opening in 2 of 7 patients. A portion of the thyroid gland was resected in 6 patients. One patient has not yet undergone a definitive procedure. There was 1 recurrence in a patient whose pathology did not confirm a branchial remnant. The diagnosis and management of pyriform sinus anomalies are challenging. Ultrasound scan, computed tomography scan, barium swallow, and pharyngoscopy are all useful. The portion of thyroid involved in the fistula must be excised en bloc with the inflammatory mass, and the tract should be ligated at the level of the pharynx to minimize recurrence. Copyright 2002, Elsevier Science (USA). All rights reserved.

Congenital cystic lesions of the head and neck.

PubMed

Ibrahim, Mohannad; Hammoud, Khaled; Maheshwari, Mohit; Pandya, Amit

2011-08-01

This article presents clinical characteristics and radiologic features of congenital cervical cystic masses, among them thyroglossal duct cysts, cystic hygromas, branchial cleft cysts, and the some of the rare congenital cysts, such as thymic and cervical bronchogenic cysts. The imaging options and the value of each for particular masses, as well as present clinical and radiologic images for each, are discussed. Copyright © 2011 Elsevier Inc. All rights reserved.

Coexisting first and bilateral second branchial fistulas in a child with nonfamilial branchio-otic syndrome.

PubMed

Lapeña, Jose F; Jimena, Genilou Liv M

2013-07-01

We describe what we believe is only the third reported case of coexisting first and bilateral second branchial fistulas associated with nonfamilial branchio-otic syndrome. The patient was a 6-year-old girl who presented with bilaterally draining anterior neck puncta, a preauricular sinus, and moderately severe bilateral hearing loss. She had no family history of branchial anomalies. Compared with branchial cysts and sinuses, branchial fistulas are rare. Even more rare are bilateral second branchial fistulas coexisting with first branchial anomalies, as only 10 cases have been previously reported in the English-language literature. Of these 10 cases, 5 were associated with either branchio-otic syndrome or branchio-oto-renal syndrome; 2 patients had familial branchio-otic syndrome, 2 had nonfamilial branchio-otic syndrome, and 1 had nonfamilial branchio-oto-renal syndrome.

First branchial cleft anomaly: clinical insight into its relevance in otolaryngology with pediatric considerations.

PubMed

Maithani, Tripti; Pandey, Apporva; Dey, Debraj; Bhardwaj, Aparna; Singh, V P

2014-01-01

First branchial cleft anomalies (FBCA) represent a small subset of congenital malformations in neck. Prime objective of this study is to share our experience with FBCA, emphasize its relevance in otolaryngology and deal with its pediatric perspective. Embryology, pathologic anatomy and varied spectra of clinical presentations of FBCA are discussed. Along with this we have illustrated three different cases; all of them were of pediatric age group and were misdiagnosed by their treating specialists elsewhere. In this article we have also laid special emphasis on its pediatric considerations. FBCA are mostly misdiagnosed due to their unfamiliar clinical signs and symptoms. Swellings may masquerade as other neck masses. Majority of patients give a history of previous incision and drainage. While dealing with pediatric patients the important factors to be kept in mind are the age of child, superficial course of facial nerve, any associated agenesis of parotid gland. Alteration in surgical technique may be required in children. A thorough medical examination with high index of clinical suspicion should be kept in mind while dealing with such anomalies. Owing to their complex presentation and close relation with facial nerve they are challenging lesions for surgeons.

First branchial arch fistula: diagnostic dilemma and improvised surgical management.

PubMed

Prabhu, Vinod; Ingrams, Duncan

2011-01-01

First branchial cleft anomalies are uncommon, and only sporadic case reports are published in the literature. They account for 1% to 8% of all the branchial abnormalities. The often variable presentation and tract siting of first arch fistulae have led to misdiagnosis. The misdiagnosis results in inappropriate/ineffective treatment and recurrence of the sinus tract. We present a 19-year-old woman who presented to the ENT outpatient department with episodic discharge from a long-standing fistula anterior to the left sternomastoid muscle. This was associated with repeated episodes of ipsilateral tonsillitis. In relation to the history and because of the position of the fistula, a diagnosis of second branchial arch fistula was made. An attempt at excision was unfortunately followed by early recurrence of discharge. At review following the procedure, a defect of the left tympanic membrane in the form of a fibrous band was noted, and a revised diagnosis of first branchial arch sinus was made. Wide surgical excision of the tract with partial parotidectomy was performed. An uneventful postoperative course followed, with no recurrence of symptoms after 24 months of review. We discuss the case, the diagnostic pathway, and the wide local excision technique used for removal of branchial fistulae. Copyright © 2011 Elsevier Inc. All rights reserved.

Updating concepts of first branchial cleft defects: a literature review.

PubMed

D'Souza, Alwyn R; Uppal, Harpreet S; De, Ranit; Zeitoun, Hisham

2002-02-01

The Sinuses and fistulae of first branchial cleft origin have been widely reported in the literature and their variable relationship to the facial nerve has been described. Most published series however are too small to allow a detailed analysis of the relative frequency of various relationships of these lesions to the facial nerve and therefore enabling the determination of risks to the nerve at surgery. The aim of this study was to perform a comprehensive review of literature in an attempt to identify those patients with a deep tract (lying deep to the main trunk of the facial nerve and/or its branches, and/or between the branches) and to recognize the incidence of the complications of surgical management. Available English, French and German literature between 1923 and 2000 was reviewed and variables including patient's age, sex, side and type of anomaly, opening of the lesion and the relationship of the tract are analyzed in relation to the position of the facial nerve. The complications due to their surgical excision are also reported. Of the total number of cases with fistulae and sinuses identified (n=158) fistulous tracts were more likely to lie deep to the facial nerve compared with sinus tracts (P=0.01). Lesions with openings in the external auditory meatus are associated with a tract superficial to the facial nerve (P=0.05). Patients presenting at a younger age were more likely to have a deep tract with consequent increased risk of facial nerve damage. Identification of the facial nerve trunk at an early stage of dissection is critical. Extra care and caution should be exercised in younger patients (<6 months), those with fistulous tracts and in patients with a tract opening elsewhere other than the external auditory canal.

Outcome of diabetes insipidus in patients with Rathke's cleft cysts.

PubMed

Oishi, Masahiro; Hayashi, Yasuhiko; Sasagawa, Yasuo; Kita, Daisuke; Tachibana, Osamu; Nakada, Mitsutoshi

2018-04-01

It is well-known that Rathke's cleft cysts (RCCs) infrequently cause headache, endocrinological dysfunction, and visual disturbance, and in rare cases, cause diabetes insipidus (DI). Although surgical evacuation of the cyst content can result in high rates of symptomatic improvement, not only the treatment efficacy but also the pathophysiology of DI with RCC are undetermined. The aim of this study is to elucidate the underlying mechanisms and outcomes of DI associated with RCCs. We retrospectively studied 109 patients with RCCs treated at Kanazawa University Hospital between 2000 and 2016. Their age, sex, symptoms, endocrinological status, DI, visual disturbance, neuroradiological findings, pathological appearances, and pre-/post-operative hormone levels and status of anti-diuretic hormone replacements were assessed. Among 109 cases of RCCs, five cases (4.6%, 2 males and 3 females) manifested with DI as initial presentation were included. These five cases could be divided into two types: the acute type and the chronic type, based on the onset and duration of symptoms. Three acute onset cases presented with not only strong thirst but also sudden headaches without pituitary dysfunction, whereas the two chronic onset cases presented with chronic headaches and hypopituitarism. Pathological examination in the acute type revealed inflammatory cell infiltration into only the posterior lobe of the pituitary and disruption of the cyst wall adjacent to the posterior lobe, which might suggest RCC rupture. In contrast, the chronic type showed inflammatory cell infiltration into both the anterior and posterior lobes of the pituitary and thickened fibrosis beneath the cyst wall. Postoperatively, two cases of the acute type could be controlled with a smaller amount of 1-deamino-8-D-arginine vasopressin (DDAVP) than that required preoperatively, whereas no change was observed in the cases of the chronic type. The cases of DI onset caused by RCCs could be divided into the acute

Ocular Manifestations of Oblique Facial Clefts

PubMed Central

Ortube, Maria Carolina; Dipple, Katrina; Setoguchi, Yoshio; Kawamoto, Henry K.; Demer, Joseph L.

2014-01-01

Introduction In the Tessier classification, craniofacial clefts are numbered from 0 to 14 and extend along constant axes through the eyebrows, eyelids, maxilla, nostrils, and the lips. We studied a patient with bilateral cleft 10 associated with ocular abnormalities. Method Clinical report with orbital and cranial computed tomography. Results After pregnancy complicated by oligohydramnios, digoxin, and lisinopril exposure, a boy was born with facial and ocular dysmorphism. Examination at age 26 months showed bilateral epibulbar dermoids, covering half the corneal surface, and unilateral morning glory anomaly of the optic nerve. Ductions of the right eye were normal, but the left eye had severely impaired ductions in all directions, left hypotropia, and esotropia. Under anesthesia, the left eye could not be rotated freely in any direction. Bilateral Tessier cleft number 10 was implicated by the presence of colobomata of the middle third of the upper eyelids and eyebrows. As the cleft continued into the hairline, there was marked anterior scalp alopecia. Computed x-ray tomography showed a left middle cranial fossa arachnoid cyst and calcification of the reflected tendon of the superior oblique muscle, trochlea, and underlying sclera, with downward and lateral globe displacement. Discussion Tessier 10 clefts are very rare and usually associated with encephalocele. Bilateral 10 clefts have not been reported previously. In this case, there was coexisting unilateral morning glory anomaly and arachnoid cyst of the left middle cranial fossa but no encephalocele. Conclusions Bilateral Tessier facial cleft 10 may be associated with alopecia, morning glory anomaly, epibulbar dermoids, arachnoid cyst, and restrictive strabismus. PMID:20856062

Endoscopic Transsphenoidal Cisternostomy for Nonneoplastic Sellar Cysts

PubMed Central

Su, Yukai; Ishii, Yudo; Lin, Chien-Min; Tahara, Shigeyuki; Teramoto, Akira; Morita, Akio

2015-01-01

Background and Importance. Sellar arachnoid cysts and Rathke's cleft cysts are benign lesions that produce similar symptoms, including optochiasmatic compression, pituitary dysfunction, and headache. Studies have reported the use of various surgical treatment methods for treating these symptoms, preventing recurrence, and minimizing operative complications. However, the postoperative cerebrospinal fluid (CSF) fistula and recurrence rate remain significant. Clinical Presentation. In this paper, we present 8 consecutive cases involving arachnoid cysts and Rathke's cleft cysts, which were managed by using drainage and cisternostomy, the intentional fenestration of the cyst into the subarachnoid space, and then meticulously closing sellar floor using dural sutures. The postoperative images, CSF fistula rate, and the recurrence rate were favorable. Conclusion. We report this technique and discuss the benefit of this minimally invasive approach. PMID:25685785

Treatments of various otolaryngological cystic diseases by OK-4321: its indications and limitations.

PubMed

Ohta, Nobuo; Fukase, Shigeru; Suzuki, Yusuke; Ishida, Akihiro; Aoyagi, Masaru

2010-11-01

The aim of this study was to evaluate the indications for, and outcomes and limitations of, OK-432 therapy in various otolaryngological cystic diseases. A retrospective clinical study at Yamagata University School of Medicine and the Fukase Clinic in Japan. Between April 1996 and November 2009 we tried OK-432 therapy in 148 patients with otolaryngological cystic diseases. In cases of plunging ranulas, lymphangiomas, branchial cleft cysts, thyroglossal duct cysts, thyroid cysts, and cervical lymphocele, we aspirated as much of the fluid content of each cystic lesion as possible, and we then replaced the volume of aspirated fluid with about half the volume of OK-432 solution. Disappearance of the lesion was observed in 119 of 148 patients (80%). Marked reduction was observed in 20 of 148 patients (14%). Partial reduction was observed in four patients (3%), and no response was seen in five patients (3%). Plunging ranula, lymphangioma, thyroglossal duct cyst, thyroid cyst, auricular hematoma, and salivary mucocele showed better responses to OK-432 therapy than did branchial cleft cyst. Serious complications with OK-432 therapy were infrequent, and the therapy seemed to have no influence on future surgery. Our results confirmed that OK-432 therapy is simple, easy, safe, and effective and can be used as a substitute for surgery in the treatment of various otolaryngological cystic diseases.

Pediatric symptomatic Rathke cleft cyst compared with cystic craniopharyngioma.

PubMed

Hayashi, Yasuhiko; Kita, Daisuke; Fukui, Issei; Sasagawa, Yasuo; Oishi, Masahiro; Okajima, Michiko; Tachibana, Osamu; Nakada, Mitsutoshi

2016-09-01

Symptomatic Rathke cleft cysts (RCCs) are rarely detected in neuroradiological screening and are less commonly found in children than in adults. However, when RCCs are observed in children, it is important to carefully distinguish a RCC from a cystic craniopharyngioma (CP) even if surgically treated or conservatively followed up. We conducted a retrospective review of clinical data from 11 patients with symptomatic RCCs whose ages were under 18 years and compared the data with data from 15 age- and sex-matched patients with cystic CP who were treated at our institute. The mean age of the patients with RCCs was 12.2 years (range, 6-18). There were six males and five females. As initial symptoms, nine patients presented with headache, while two each had impaired visual function, diabetes insipidus, and activity loss. The 14 patients with CP suffered from impaired visual function. Magnetic resonance imaging (MRI) mainly showed hyperintensity on T1-weighted images (WIs) and hypointensity on T2-WI in patients with RCC. However, patients with CP had characteristic hyperintensity on T2-WI. The average maximum diameter of the RCCs was 19.0 mm on average (range, 8-33 mm). The RCCs were thus significantly smaller than CPs (34.9 mm; range, 21-54 mm). The RCCs were usually oval or dumbbell-shaped and regular in appearance, while the larger CPs were lobular and irregular. A preoperative endocrinological evaluation revealed insufficiencies in four axes in five patients with RCC. Postoperative endocrinological status improved in three patients, remained unchanged in three, and worsened in one. The gonadotropin axis was damaged in a majority (nine) of the patients with CP preoperatively. Postoperative evaluation revealed deficits in five axes in 14 patients with CP, which is a significantly different trend than observed in patients with RCC. Eight patients underwent surgical procedures (transsphenoidal surgery (TSS) in four, craniotomy in four). Two of these patients

Selected Case From the Arkadi M. Rywlin International Pathology Slide Seminar: Benign Warthin Tumor of the Thyroid.

PubMed

Peckova, Kvetoslava; Daum, Ondrej; Michal, Michael; Curcikova, Radmila; Michal, Michal

2016-09-01

We report on an exceedingly rare lesion of the thyroid probably of a branchial cleft origin, which was not published in the world literature before. A 58-year-old woman underwent a total thyroidectomy for bilateral goiter. Grossly, there was one yellowish nodule sized 15 mm in the largest dimension found in the right lobe. Microscopically, the thyroid parenchyma showed signs of Hashimoto thyroiditis. The nodule in the right lobe was composed of a part of solid cell nests appearance, another part resembling a branchial cleft cyst, and a part resembling Warthin tumor. This lesion may belong to the histogenetically similar group of entities in the head and neck region which are derived from branchial cleft derivatives and which, under the inflammatory influence, have the ability to a cystic dilatation and proliferation of the epithelial component. The epithelium can afterwards become papillary and may undergo oncocytic transformation, thus gaining features that impart the resemblance of a Warthin tumor. Club members generally agreed with a submitted diagnosis of benign Warthin tumor of the thyroid.

A Case Report: A Third/Fourth Branchial Pouch Anomaly Presented by Solid Thyroid and Lateral Cervical Neck Masses.

PubMed

Nasreldin, Magda H A; Ibrahim, Eman A; Saad El-Din, Somaia A

2016-01-01

Branchial pouch-derived anomalies may arise from remnants of the first, second, or third/fourth branchial arches. Branchial pouch-related structures are found within the thyroid gland in the form of solid cell rests, epithelial lined cyst with or without an associated lymphoid component, thymic and/or parathyroid tissue, and less commonly in the form of heterotopic cartilage. We present a rare case of left solid thyroid swelling nearby two cervical nodules in a seven-year-old female with a clinical diagnosis suggestive of malignant thyroid tumor with metastasis to the cervical lymph nodes. Histopathological examination revealed that it was compatible with third/fourth branchial pouch-derived anomaly composed of mature cartilage and thymic and parathyroid tissues for clinical and radiological correlations.

A Case Report: A Third/Fourth Branchial Pouch Anomaly Presented by Solid Thyroid and Lateral Cervical Neck Masses

PubMed Central

Nasreldin, Magda H. A.; Ibrahim, Eman A.; Saad El-Din, Somaia A.

2016-01-01

Branchial pouch-derived anomalies may arise from remnants of the first, second, or third/fourth branchial arches. Branchial pouch-related structures are found within the thyroid gland in the form of solid cell rests, epithelial lined cyst with or without an associated lymphoid component, thymic and/or parathyroid tissue, and less commonly in the form of heterotopic cartilage. We present a rare case of left solid thyroid swelling nearby two cervical nodules in a seven-year-old female with a clinical diagnosis suggestive of malignant thyroid tumor with metastasis to the cervical lymph nodes. Histopathological examination revealed that it was compatible with third/fourth branchial pouch-derived anomaly composed of mature cartilage and thymic and parathyroid tissues for clinical and radiological correlations. PMID:26819565

Congenital branchial apparatus malformation in a Haflinger colt.

PubMed

David, Florent; Savard, Claudine; Drolet, Richard; Alexander, Kate; Pang, Daniel S J; Laverty, Sheila

2008-01-01

To report the diagnosis and treatment of a branchial apparatus anomaly (BAA) associated with a mandibular malformation in a foal. Clinical report. Haflinger foal. A 6-day-old foal had a fluctuating cystic mass in the pharyngeal (throatlatch) region, which changed in appearance after ingestion of milk. Upper airway endoscopy and diagnostic imaging (ultrasonography, radiography, computed tomography) permitted identification of the anatomic location of a communicating tract between the lumen of the cystic mass and the pharynx. The mass was surgically removed and communication with the pharynx ligated. Histologic appearance of this mass was consistent with a branchial cyst or sinus. The mandibular malformation was managed conservatively. Surgical resection of a third branchial sinus resulted in an excellent functional and cosmetic outcome. There was no evidence of any mandibular deformity 2 years later. BAA may induce secondary mandibular deformation in utero and may cause respiratory compromise postpartum. Careful surgical dissection and removal of BAA resulted in an excellent outcome. BAAs should be included in the differential diagnosis of a throatlatch region mass in equine neonates. Complete surgical excision is recommended and full recovery of any associated mandibular deformity may be anticipated without additional treatment in very young patients.

Branchial cleft anomaly, congenital heart disease, and biliary atresia: Goldenhar complex or Lambert syndrome?

PubMed

Cohen, J; Schanen, N C

2000-01-01

The features of Goldenhar complex have been well-described and classically include branchial arch abnormalities, epibulbar dermoid and vertebral abnormalities. We have identified an infant with these features in association with complex congenital heart disease and intrahepatic biliary atresia. Although Lambert described an autosomal recessive disorder with an association of biliary atresia and branchial arch abnormalities, none of those cases had epibulbar dermoid. Diagnostic considerations in this case include inclusion of biliary atresia as a new feature in the expanding spectrum of the Goldenhar complex, versus Lambert syndrome with epibulbar dermoid.

[Associated brachial cleft anomalies in the cat eye syndrome].

PubMed

Avior, Galit; Derowe, Ari; Fliss, Dan M; Leicear-Trejo, Leonor; Braverman, Itzhak

2007-02-01

The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited and represents an inv dup 22 (q11). A two years old female presented to our department with an association of cat eye syndrome with preauricular tags and a first branchial arch anomaly. This article discusses the surgical management and the association between the cat eye syndrome and first branchial cleft anomaly.

Craniopharyngioma arising in a Rathke's cleft cyst: case report.

PubMed

Alomari, Ahmed K; Kelley, Brian J; Damisah, Eyiyemisi; Marks, Asher; Hui, Pei; DiLuna, Michael; Vortmeyer, Alexander

2015-03-01

Craniopharyngioma is one of the most common non-glial intracranial tumors of childhood. Its relation to Rathke's cleft cyst (RCC) is controversial, and both lesions have been hypothesized to lie on a continuum of cystic ectodermal lesions of the sellar region. The authors report on a 7-year-old boy who presented with decreased visual acuity, presumably of at least 2 years' duration, and was found to have a 5.2-cm sellar lesion with rim enhancement. Histological examination of the resected lesion showed a mixture of areas with simple RCC morphology with focal squamous metaplasia and areas with typical craniopharyngioma morphology. Immunohistochemical staining with CK20 and Ki 67 differentially highlighted the 2 morphological components. Testing for beta-catenin and BRAF mutations was negative in the craniopharyngioma component, precluding definitive molecular classification. Follow-up imaging showed minimal residual enhancement and the patient will be closely followed up with serial MRI. Given the clinical and histological findings in the case, a progressive transformation of the RCC to craniopharyngioma seems to be the most plausible explanation for the co-occurrence of the 2 lesion types in this patient. An extensive review of previously proposed theories of the relationship between craniopharyngioma and RCC is also presented.

[A Case of Cystic Cervical Lymph Node Metastasis of HPV-positive Tonsil Cancer, Being Discriminated as the Branchiogenic Carcinoma].

PubMed

Kambara, Rumi; Tamai, Masamitsu; Horii, Arata

2016-02-01

In recent years, human papillomavirus (HPV)-positive oropharyngeal carcinomas have been increasing. The first manifestation of these tumors is frequently as cystic metastasis to cervical lymph nodes that may precede recognition of the primary tumor, so, they often result in misdiagnosis as branchial cleft cysts. We report a case of cystic cervical lymph node metastasis of HPV-positive tonsil cancer. The patient was a 70-years-old man who noticed a mass on his left neck. The tumor was large and soft, and it was diagnosed as benign in fine-needle aspiration cytology. We diagnosed the tumor as a branchial cleft cyst and undertook surgery. The histopathological diagnosis was squamous cell carcinoma arising from a branchiogenic cyst. However, because it did not satisfy the diagnostic criteria, we diagnosed the tumor as an unknown primary tumor. One year later, left tonsil cancer was suspected based on PET-CT imaging and a left tonsillectomy was undertaken, whereafter tonsil cancer was found. In p16 immunostaining, it was positive in both cystic mass and tonsil. The cervical mass was cystic lymph node metastasis of HPV-positive tonsil cancer. It is important to investigate the oropharynx, when we found cystic cervical mass, because HPV-positive oropharyngeal carcinoma frequently results in cystic neck metastasis.

Branchial Anomalies: Diagnosis and Management

PubMed Central

Azeez, Arun; Thada, Nikhil Dinaker; Rao, Pallavi; Prasad, Kishore Chandra

2014-01-01

Objective. To find out the incidence of involvement of individual arches, anatomical types of lesions, the age and sex incidence, the site and side of predilection, the common clinical features, the common investigations, treatment, and complications of the different anomalies. Setting. Academic Department of Otolaryngology, Head and Neck Surgery. Design. A 10 year retrospective study. Participants. 30 patients with clinically proven branchial anomalies including patients with bilateral disease totaling 34 lesions. Main Outcome Measures. The demographical data, clinical features, type of branchial anomalies, and the management details were recorded and analyzed. Results and Observations. The mean age of presentation was 18.67 years. Male to female sex ratio was 1.27 : 1 with a male preponderance. Of the 34 lesions, maximum incidence was of second arch anomalies (50%) followed by first arch. We had two cases each of third and fourth arch anomalies. Only 1 (3.3%) patients of the 30 presented with lesion at birth. The most common pathological type of lesions was fistula (58.82%) followed by cyst. 41.18% of the lesions occurred on the right side. All the patients underwent surgical excision. None of our patients had involvement of facial nerve in first branchial anomaly. All patients had tracts going superficial to the facial nerve. Conclusion. Confirming the extent of the tract is mandatory before any surgery as these lesions pass in relation to some of the most vital structures of the neck. Surgery should always be the treatment option. injection of dye, microscopic removal and inclusion of surrounding tissue while excising the tract leads to a decreased incidence of recurrence. PMID:24772172

Branchial anomalies: diagnosis and management.

PubMed

Prasad, Sampath Chandra; Azeez, Arun; Thada, Nikhil Dinaker; Rao, Pallavi; Bacciu, Andrea; Prasad, Kishore Chandra

2014-01-01

Objective. To find out the incidence of involvement of individual arches, anatomical types of lesions, the age and sex incidence, the site and side of predilection, the common clinical features, the common investigations, treatment, and complications of the different anomalies. Setting. Academic Department of Otolaryngology, Head and Neck Surgery. Design. A 10 year retrospective study. Participants. 30 patients with clinically proven branchial anomalies including patients with bilateral disease totaling 34 lesions. Main Outcome Measures. The demographical data, clinical features, type of branchial anomalies, and the management details were recorded and analyzed. Results and Observations. The mean age of presentation was 18.67 years. Male to female sex ratio was 1.27 : 1 with a male preponderance. Of the 34 lesions, maximum incidence was of second arch anomalies (50%) followed by first arch. We had two cases each of third and fourth arch anomalies. Only 1 (3.3%) patients of the 30 presented with lesion at birth. The most common pathological type of lesions was fistula (58.82%) followed by cyst. 41.18% of the lesions occurred on the right side. All the patients underwent surgical excision. None of our patients had involvement of facial nerve in first branchial anomaly. All patients had tracts going superficial to the facial nerve. Conclusion. Confirming the extent of the tract is mandatory before any surgery as these lesions pass in relation to some of the most vital structures of the neck. Surgery should always be the treatment option. injection of dye, microscopic removal and inclusion of surrounding tissue while excising the tract leads to a decreased incidence of recurrence.

Determinants of orofacial clefting II: Effects of 5-Aza-2'-deoxycytidine on gene methylation during development of the first branchial arch.

PubMed

Seelan, Ratnam S; Mukhopadhyay, Partha; Warner, Dennis R; Smolenkova, Irina A; Pisano, M Michele; Greene, Robert M

2017-01-01

Defects in development of the secondary palate, which arise from the embryonic first branchial arch (1-BA), can cause cleft palate (CP). Administration of 5-Aza-2'-deoxycytidine (AzaD), a demethylating agent, to pregnant mice on gestational day 9.5 resulted in complete penetrance of CP in fetuses. Several genes critical for normal palatogenesis were found to be upregulated in 1-BA, 12h after AzaD exposure. MethylCap-Seq (MCS) analysis identified several differentially methylated regions (DMRs) in DNA extracted from AzaD-exposed 1-BAs. Hypomethylated DMRs did not correlate with the upregulation of genes in AzaD-exposed 1-BAs. However, most DMRs were associated with endogenous retroviral elements. Expression analyses suggested that interferon signaling was activated in AzaD-exposed 1-BAs. Our data, thus, suggest that a 12-h in utero AzaD exposure demethylates and activates endogenous retroviral elements in the 1-BA, thereby triggering an interferon-mediated response. This may result in the dysregulation of key signaling pathways during palatogenesis, causing CP. Copyright © 2016 Elsevier Inc. All rights reserved.

Congenital cystic neck masses: embryology and imaging appearances, with clinicopathological correlation.

PubMed

Gaddikeri, Santhosh; Vattoth, Surjith; Gaddikeri, Ramya S; Stuart, Royal; Harrison, Keith; Young, Daniel; Bhargava, Puneet

2014-01-01

Congenital cystic masses of the neck are uncommon and can present in any age group. Diagnosis of these lesions can be sometimes challenging. Many of these have characteristic locations and imaging findings. The most common of all congenital cystic neck masses is the thyroglossal duct cyst. The other congenital cystic neck masses are branchial cleft cyst, cystic hygroma (lymphangioma), cervical thymic and bronchogenic cysts, and the floor of the mouth lesions including dermoid and epidermoid cysts. In this review, we illustrate the common congenital cystic neck masses including embryology, clinical findings, imaging features, and histopathological findings. Copyright © 2014 Elsevier, Inc. All rights reserved.

[Fourth branchial cleft deformity with skin orifice: a series of 10 cases].

PubMed

Huang, S L; Zhang, B; Chen, L S; Liang, L; Luo, X N; Lu, Z M; Zhang, S Y

2016-10-07

Objective: To report rare cases of congenital neck cutaneous sinus with an orifice near the sternoclavicular joint and to investigate their origins and managements. Methods: A total of ten patients with congenital neck cutaneous sinus having an orifice near the sternoclavicular joint treated in the Guangdong General Hospital from January 2010 to June 2015 were retrospectively analyzed. Results: There four boys and six girls, aging from 11 months to 96 months with an average of 33.4 months, and they had a common feature showing a congenital cutaneous sinus with an orifice near sternoclavicular joint. Discharge of pus from the orifice or abscess formation was commonly seen soon after infection. With bacteriological study, staphylococcus aureus was positive in five cases and klebsiella pneumonia in a case. Another orifice of fistula/sinus was not depicted in pyriform with barium swallow X-ray in five cases Ultrasound studies of three cases demonstrated anechoic (i.e., nearly black) and solid-cystic lesion near sternoclavicular joint with posterior acoustic enhancement. Magnetic resonance imaging (MRI) showed isointensity of the lesion on T1 and T2 weighted images with heterogeneous enhancement and a close relationship with sternoclavicular joint. All patients underwent laryngoscopic examination, which showed no orifice of sinus in pyriform at same side. Surgical resection of fistula/sinus was performed in all cases. The lengths of the fistula varied from 5 mm to 22 mm with an average of 11 mm. Postoperative pathological examination showed all specimens were accordance with fistula. No complications were noticed. Recurrence was not observed in the cases by following-up of 6 months to 70 months (median: 33 months). Conclusion: Congenital neck cutaneous sinus with orifice near the sternoclavicular joint maybe a special clinical phenotype of the fourth branchial cleft sinus with skin orifice in cervicothoracic junction. Differential diagnoses between low cervical diseases

Significant Improvement in Chronic Persistent Headaches Caused by Small Rathke Cleft Cysts After Transsphenoidal Surgery.

PubMed

Fukui, Issei; Hayashi, Yasuhiko; Kita, Daisuke; Sasagawa, Yasuo; Oishi, Masahiro; Tachibana, Osamu; Nakada, Mitsutoshi

2017-03-01

Rathke cleft cysts (RCC) usually are asymptomatic and can be observed via the use of conservative methods. Some patients with RCCs, however, have severe headaches even if they are small enough to be confined to the sella, and these small RCCs seldom have been discussed. This study presents an investigation into clinical characteristics of small RCCs associated with severe headaches, demonstrating efficacy and safety of endoscopic transsphenoidal surgery (ETSS) to relieve headaches. In this study, 13 patients with small RCCs (maximum diameter <10 mm) who presented with headaches and were treated by ETSS at our institute from 2009 to 2014 were recruited. These RCCs were treated Headache Impact Test-6 (HIT-6) score was calculated both pre- and postoperatively to evaluate headache severity. All patients complained of severe headaches, which disturbed their daily life. Most headaches were nonpulsating and localized in the frontal area. Characteristically, 6 patients (46%) experienced severe headaches with sudden onset that continued chronically. HIT-6 score was 64 on average, meaning headaches affected daily life severely. After surgical decompression of the cyst, headache in all of the patients improved dramatically and HIT-6 score decreased significantly to 37, suggesting that headaches were diminished. No newly developed deficiencies of the anterior pituitary lobe function were detected. Postoperative occurrence of diabetes insipidus was found in 2 patients, both of which were transient. No recurring cysts were found. Severe headaches can develop from small RCCs. In the present study, ETSS was performed on such patients effectively and safely to relieve their headaches. Copyright © 2017 Elsevier Inc. All rights reserved.

Determinants of orofacial clefting I: Effects of 5-Aza-2'-deoxycytidine on cellular processes and gene expression during development of the first branchial arch.

PubMed

Mukhopadhyay, Partha; Seelan, Ratnam S; Rezzoug, Francine; Warner, Dennis R; Smolenkova, Irina A; Brock, Guy; Pisano, M Michele; Greene, Robert M

2017-01-01

In this study, we identify gene targets and cellular events mediating the teratogenic action(s) of 5-Aza-2'-deoxycytidine (AzaD), an inhibitor of DNA methylation, on secondary palate development. Exposure of pregnant mice (on gestation day (GD) 9.5) to AzaD for 12h resulted in the complete penetrance of cleft palate (CP) in fetuses. Analysis of cells of the embryonic first branchial arch (1-BA), in fetuses exposed to AzaD, revealed: 1) significant alteration in expression of genes encoding several morphogenetic factors, cell cycle inhibitors and regulators of apoptosis; 2) a decrease in cell proliferation; and, 3) an increase in apoptosis. Pyrosequencing of selected genes, displaying pronounced differential expression in AzaD-exposed 1-BAs, failed to reveal significant alterations in CpG methylation levels in their putative promoters or gene bodies. CpG methylation analysis suggested that the effects of AzaD on gene expression were likely indirect. Copyright © 2016 Elsevier Inc. All rights reserved.

Duplication of the External Auditory Canal: Two Cases and a Review of the Literature

PubMed Central

Goudakos, John K.; Blioskas, Sarantis; Psillas, George; Vital, Victor; Markou, Konstantinos

2012-01-01

The objective of the present paper is to describe the clinical presentation, diagnostic process, surgical treatment, and outcome of 2 patients with first branchial cleft anomaly. The first case was an 8-year-old girl presented with an elastic lesion located in the left infra-auricular area, in close relation with the lobule, duplicating the external auditory canal. The magnetic resonance imaging revealed a lesion, appearing as a rather well-circumscribed mass within the left parotid gland and duplicating the ear canal. A superficial parotidectomy was subsequently performed, with total excision of the cyst. The second patient was a 15-year-old girl presented with a congenital fistula of the right lateral neck. At superficial parotidectomy, a total excision of the fistula was performed. During the operation the tract was recorded to lay between the branches of the facial nerve, extending with a blind ending canal parallel to the external acoustic meatus. Conclusively, first branchial cleft anomalies are rare malformations with cervical, parotid, or auricular clinical manifestations. Diagnosis of first branchial cleft lesions is achieved mainly through careful physical examination. Complete surgical excision with wide exposure of the lesion is essential in order to achieve permanent cure and avoid recurrence. PMID:23213587

Heterotopic salivary gland tissue: a case report demonstrating evolution and association with the branchial apparatus.

PubMed

Chang, Wen-Yu; Lee, Ka-Wo; Tsai, Kun-Bow; Chen, Gwo-Shing

2005-09-01

Heterotopic salivary gland tissue (HSGT) in the lower neck is an unusual developmental anomaly with characteristic clinical and microscopic findings. The exact embryogenesis remains unclear. This rare entity must be considered in the differential diagnosis of neck mass with fistula. We present a typical HSGT totally removed using the stepladder excision technique and showing an internal fistula. Interpretation of this case from the anatomical and pathological points of view, we support the argument that the embryogenesis of HSGT is more probably related to ectodermal heteroplasia of the precervical sinus of His and further conclude that an association with branchial cleft sinus may exist and cannot be seen as an exclusion criteria for diagnosis of HSGT. Due to possible but infrequent neoplastic transformation, it is important to check HSGT in every encountered cervical anomaly related to any branchial apparatus derived lesion.

Rathke's Cleft Cyst as Origin of a Pediatric Papillary Craniopharyngioma.

PubMed

Schlaffer, Sven-Martin; Buchfelder, Michael; Stoehr, Robert; Buslei, Rolf; Hölsken, Annett

2018-01-01

A 6-year old patient presented with an intra and suprasellar cystic lesion accompanied with impairment of the hypothalamic-pituitary axis and partial hypopituitarism. The most likely cause of sellar lesions in this age group are adamantinomatous craniopharyngioma (adaCP) or Rathke´s cleft cysts (RCCs). AdaCP are characterized by CTNNB1 mutations accompanied with aberrant nuclear beta-catenin expression. RCC show neither nuclear beta-catenin expression nor BRAF mutation. The latter is a hallmark of papillary craniopharyngiomas (papCP) that exhibit remarkable histological similarity with metaplasia of RCC. Diagnosis of the patient was elucidated by CTNNB1 and BRAF mutation screening, utilizing different approaches, as well as histological examination of markers, e.g., beta-catenin, claudin-1, EpCAM and the mutated BRAFV600E protein, which are known to be differentially expressed in sellar lesions. The case presented reveals extraordinary aspects for two reasons. Firstly, the lesion appeared clinically, on MRI, intraoperatively and histologically as RCC with prominent squamous metaplasia, but showing an expression pattern of markers also found in papCP, whilst exhibiting a hitherto undescribed BRAF V 600 E mutation. This important result documents a supposable transition of RCC metaplasia into a papillary craniopharyngioma (papCP). Secondly, this intriguing case shows unexpectedly that although papCP usually occurs almost exclusively in adults, it can also arise in childhood.

Central Diabetes Insipidus Linked to Rathke's Cleft Cyst, Polyuria in a 17-year-old Girl.

PubMed

Kim, Ha Yeon; Lee, Seung Jin; Bae, Eun Hui; Ma, Seong Kwon; Kim, Soo Wan

2017-09-01

A 17-year-old girl presented with polyuria (7 L/day) and polydipsia for one year. Initial urine osmolality was 113mOsm/kg H 2 O. Following 6 h of fluid restriction, serum plasma osmolality reached 300mOsm/kg H 2 O, whereas urine osmolality was 108mOsm/kg H 2 O. Urine osmolality was increased by 427% from 108 to 557mOsm/kg after vasopressin challenge. The patient was diagnosed with central diabetes insipidus, possibly derived from the atypical occupation of a Rathke's cleft cyst at the pituitary stalk following magnetic resonance imaging with enhancement. She was discharged with desmopressin nasal spray (10 µg); urine output was maintained at 2-3 L/day, and urine osmolality was >300 mOsm/kg. Additional pituitary image studies and evaluation of hypopituitarism should be included in the differential diagnosis of patients with central diabetes insipidus.

Branchial sinus of the piriform fossa: reappraisal of third and fourth branchial anomalies.

PubMed

James, Adrian; Stewart, Craig; Warrick, Paul; Tzifa, Constance; Forte, Vito

2007-11-01

The objective of this study was to review clinical and embryologic aspects of third and fourth branchial anomalies. Retrospective study. We reviewed the institutional and departmental databases at our institution to identify all cases of third and fourth branchial anomalies encountered from 1992 to 2006. All patient records were examined with respect to demographics, clinical history, and radiologic and pathologic reports. We identified 17 cases of third and fourth branchial anomalies, the largest series of its kind reported to date. The lesions were predominantly left sided, all presenting with neck infection. Fistula formation was iatrogenic, secondary to incision and drainage. Preoperative direct laryngoscopy always revealed a pit within the apex of the piriform fossa. Surgical excision involved ipsilateral thyroidectomy as the lesion passed through the thyroid gland. No lesions following the classical course of a either a third or fourth branchial anomaly were identified. The clinical presentation of branchial sinuses arising from the piriform fossa is more in keeping with derivation from the thymopharyngeal duct (of the third pouch) than the hypothetical course of third and fourth branchial fistulae.

Coblation assisted transnasal endoscopic resection of nasopharyngeal cyst: 10 years experience and outcomes

PubMed Central

Wang, Qinying; Chen, Haihong; Wang, Shenqing

2015-01-01

Objectives: To determine the outcomes of coblation assisted transnasal endoscopic resection of nasopharyngeal cyst. Method: Retrospective chart review outcomes in 12 patients who underwent endoscopic resect cysts of the nasopharynx at our department between 2001 and 2010. Twelve patient, aged 28 to 71 years, with cysts of the nasopharynx. The outcome variables of complications and the rate of recurrence were analyzed, respectively. Results: In 12 cases, retention cysts in 2 cases, branchial cyst in 1 case, adenoid middle fossa cyst infection in 6 cases, Tornwaldt’s cyst in 3 cases. The use of the coblation device was associated with a significant decrease in blood loss. There were no postoperative complications, and the overall follow-up period was 2-7 years and shows no signs of recurrence. Conclusions: We describe transnasal endoscopic procedures to resect cysts of the nasopharynx. We found that radiofrequency coblation is a useful and safe tool associated with minimal blood loss in the resection of these cysts. In our experience, it has been a highly successful, safe, and effective procedure. PMID:26131108

Simple (unicameral) bone cyst of the calcaneus: a pathologic variant revisited.

PubMed

Thomas, L Brannon; Steffensen, Thora; Walling, Arthur K; Gilbert-Barness, Enid

2008-01-01

A 17-year-old girl was admitted to the hospital for surgery of an enlarging, painful mass of the left calcaneus. Preoperative imaging studies suggested either a simple (unicameral) or aneurysmal bone cyst. Intraoperative biopsy of the lesion revealed a simple bone cyst with extensive cholesterol clefts. Such cysts are not uncommon in the calcaneus. However, the pathology of this case is unusual and often overlooked. The typical presentation, treatment, and pathology of these lesions are reviewed.

[Diagnosis and treatment of congenital fourth branchial anomaly].

PubMed

Chen, Liang-si; Zhang, Si-yi; Luo, Xiao-ning; Song, Xin-han; Zhan, Jian-dong; Chen, Shao-hua; Lu, Zhong-ming

2010-10-01

To discuss the anatomic features, clinical presentations, diagnosis, differentiations and treatments of congenital fourth branchial anomaly(CFBA). The clinical data of 8 patients with CFBA were retrospectively analyzed. Of the 8 patients aging from 27 to 300 months (median age: 114 months), 4 male and 4 female; 3 untreated previously and 5 recurrent. All lesions, including 1 cyst, 3 sinus (with internal opening) and 4 fistula, located in the left necks. Three patients presented acute suppurative thyroiditis, 4 deep neck abscesses, and 1 neck lump. Preoperative examinations included barium esophagogram, direct laryngoscopy, ultrasonography, CT, MRI, and so on. The principles of managements were adequate drainage, infection control during acute period and radical surgery during quiescent period. Classic surgical approach consisted of complete excision of branchial lesions, dissection of recurrent laryngeal nerve and partial thyroidectomy. Selective neck dissection was applied in recurrent cases to extirpate branchial lesions, scarrings and inflammatory granuloma. Postoperatively, 1 case was with local incision infection which healed by wound care; 1 case was with temporary vocal cord paralysis which completely recovered 1 month after operation. No recurrence was found in all of 8 cases with follow-up of 13 to 42 months (median: 21 months). CFBA relates closely anatomically with recurrent laryngeal nerve and thyroid grand. The barium esophagogram and direct laryngoscopy are the most useful diagnostic tools. CT and MRI are all beneficial to the diagnosis of CFBA. The treatment key to CFBA is the complete excision of lesion during a quiescent period after inflammatory control, together with the dissection of recurrent laryngeal nerve, partial thyroidectomy and partial resection of lamina of thyroid cartilage (if necessary), which all can decrease the risk of complications and recurrence. For recurrent cases, selective neck dissection is a safe and effective surgical

Distribution of branchial anomalies in a paediatric Asian population.

PubMed

Teo, Neville Wei Yang; Ibrahim, Shahrul Izham; Tan, Kun Kiaang Henry

2015-04-01

The objective of the present study was to review the distribution and incidence of branchial anomalies in an Asian paediatric population and highlight the challenges involved in the diagnosis of branchial anomalies. This was a retrospective chart review of all paediatric patients who underwent surgery for branchial anomalies in a tertiary paediatric hospital from August 2007 to November 2012. The clinical notes were correlated with preoperative radiological investigations, intraoperative findings and histology results. Branchial anomalies were classified based on the results of the review. A total of 28 children underwent surgery for 30 branchial anomalies during the review period. Two children had bilateral branchial anomalies requiring excision. Of the 30 branchial anomalies, 7 (23.3%) were first branchial anomalies, 5 (16.7%) were second branchial anomalies, 3 (10.0%) were third branchial anomalies, and 4 (13.3%) were fourth branchial anomalies (one of the four patients with fourth branchial anomalies had bilateral branchial anomalies). In addition, seven children had 8 (26.7%) branchial anomalies that were thought to originate from the pyriform sinus; however, we were unable to determine if these anomalies were from the third or fourth branchial arches. There was inadequate information on the remaining 3 (10.0%) branchial anomalies for classification. The incidence of second branchial anomalies appears to be lower in our Asian paediatric population, while that of third and fourth branchial anomalies was higher. Knowledge of embryology and the related anatomy of the branchial apparatus is crucial in the identification of the type of branchial anomaly.

Distribution of branchial anomalies in a paediatric Asian population

PubMed Central

Teo, Neville Wei Yang; Ibrahim, Shahrul Izham; Tan, Kun Kiaang Henry

2015-01-01

INTRODUCTION The objective of the present study was to review the distribution and incidence of branchial anomalies in an Asian paediatric population and highlight the challenges involved in the diagnosis of branchial anomalies. METHODS This was a retrospective chart review of all paediatric patients who underwent surgery for branchial anomalies in a tertiary paediatric hospital from August 2007 to November 2012. The clinical notes were correlated with preoperative radiological investigations, intraoperative findings and histology results. Branchial anomalies were classified based on the results of the review. RESULTS A total of 28 children underwent surgery for 30 branchial anomalies during the review period. Two children had bilateral branchial anomalies requiring excision. Of the 30 branchial anomalies, 7 (23.3%) were first branchial anomalies, 5 (16.7%) were second branchial anomalies, 3 (10.0%) were third branchial anomalies, and 4 (13.3%) were fourth branchial anomalies (one of the four patients with fourth branchial anomalies had bilateral branchial anomalies). In addition, seven children had 8 (26.7%) branchial anomalies that were thought to originate from the pyriform sinus; however, we were unable to determine if these anomalies were from the third or fourth branchial arches. There was inadequate information on the remaining 3 (10.0%) branchial anomalies for classification. CONCLUSION The incidence of second branchial anomalies appears to be lower in our Asian paediatric population, while that of third and fourth branchial anomalies was higher. Knowledge of embryology and the related anatomy of the branchial apparatus is crucial in the identification of the type of branchial anomaly. PMID:25917471

The relationship between the fistula tract and the facial nerve in type II first branchial cleft anomalies.

PubMed

Ertas, Burak; Gunaydin, Rıza Onder; Unal, Omer Faruk

2015-04-01

To share our experience involving seven patients with type II first branchial cleft anomalies (hereafter, type II anomalies), to determine whether the location of the external fistula openings of the anomalies are associated with the location of the facial nerve tract, and elucidate the relationship between the location of the fistula opening and the facial nerve. The medical records of seven patients who underwent surgery from 2005 to 2013 for type II anomalies were retrospectively examined. The relationship between the fistula opening and the facial nerve was evaluated in each patient with respect to whether the fistula opening was superior or inferior to the mandibular angle. All patients underwent partial parotidectomy, facial nerve exposure, and total excision of the mass together with connection of a small cuff of the external auditory canal skin to the fistula tract. The fistula tracts were located medially to the facial nerve in two patients, and both fistulae had openings inferior to the mandibular angle. The fistula tracts were located laterally to the facial nerve in the remaining five patients: one patient had no external opening, one had an opening inferior to the mandibular angle, and the remaining three had openings superior to the mandibular angle. Because type II anomalies are rare, their diagnosis is difficult. Surgery of such lesions is challenging and associated with a high risk due to their proximity to the facial nerve. We believe that the location of the fistula opening may help to identify the relationship between the anomalous lesion and facial nerve. Studies involving larger series of cases are needed to confirm our hypothesis; however, because of the rarity of this specific anomaly, it will not be easy to compile a large number of cases. We believe that our study will encourage further investigation on this subject. Copyright © 2014. Published by Elsevier Ireland Ltd.

The complete branchial fistula: A case report.

PubMed

Shekhar, C; Kumar, R; Kumar, R; Mishra, S K; Roy, M; Bhavana, K

2005-10-01

The incomplete branchial fistula is not an uncommon congenital anomaly of branchial apparatus but a complete one is rare. Here we report a case of complete congenital branchial fistula with an internal opening near the tonsillar fossa.

Dermoid Cysts of the Floor of the Mouth: Two Case Reports

PubMed Central

Makos, Christos; Noussios, George; Peios, Marinos; Gougousis, Spyridon; Chouridis, Pantelis

2011-01-01

Dermoid cysts in the floor of the mouth may be congenital or acquired. The congenital form, according to the main theory, originates from embryonic cells of the 1st and 2nd branchial arch. The acquired form may be due to traumatic or iatrogenic causes and as a result of the occlusion of a sebaceous gland duct. Its occurrence is less and is estimated to be from 1.6 to 6.4% of the dermoid cysts of the body in adults and 0.29% of the head and neck tumors occurring in children. They may also be classified as anatomical and histological. Anatomically, they are divided into median genioglossal, median geniohyoid, and lateral cysts, while histologically they are divided into epidermoid, dermoid cysts and teratomas. Clinically, a distinction between supra and inferior type as well as between central and lateral type is proposed in relation to themylohyoidmuscle and themidline, respectively. Histologically, an estimation of dermoid, epidermoid, and teratoid cysts is reported. Enucleation via intraoral and/or extraoral approach is the method of treatment. Two case reports of dermoid cysts in the floor of the mouth are presented in this paper, and an evaluation with regard to pathology, clinical findings, differential diagnosis, and treatment is discussed. PMID:21922020

Management of congenital neck lesions in children.

PubMed

Erikci, Volkan; Hoşgör, Münevver

2014-09-01

A retrospective clinical trial was conducted to evaluate the clinical features and treatment outcomes and to determine the incidence of complications in children with congenital neck lesions (CNLs) treated at our institution with a special emphasis on thyroglossal duct remnant (TGDR), branchial cleft anomaly (BCA), and dermoid cyst (DC). This series had 72 patients with CNL. The diagnosis of CNL was made by physical examination, ultrasound (US) in most, and for a potential extension of the mass computed tomography (CT) or magnetic resonance imaging (MRI) in a few patients and confirmed by histopathological examination in all of the children. Of the patients in this series, 39 (54.2%) children had thyroglossal duct remnant (TGDR). The most common surgical procedure (n = 36) in these children was Sistrunk's procedure. Four children (10.3%) with TGDR had associated anomalies including Turner syndrome and Morgagni hernia. During the study period, 25 (34.7%) children with branchial cleft anomaly (BCA) were treated and most of these were second branchial anomalies. There were eight children (11.1%) with dermoid cyst (DC). TGDR is the most common CNL and is presented clinically rather late with regard to BCA and DC in this series. Surgical resection is optimal choice of therapy in CNLs not only for aesthetic reasons but also for the recurrent infections and the potential danger of malignancy. Definitive surgery may be associated with high morbidity, especially recurrence. Associated anomalies may be observed, especially in children with TGDR. Although the Sistrunk's procedure is a safe and successful technique, life-threatening complications should also be kept in mind during the management of these lesions and early and adequate surgical treatment is suggested. Copyright © 2014 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

Identification of Isthmin 1 as a Novel Clefting and Craniofacial Patterning Gene in Humans.

PubMed

Lansdon, Lisa A; Darbro, Benjamin W; Petrin, Aline L; Hulstrand, Alissa M; Standley, Jennifer M; Brouillette, Rachel B; Long, Abby; Mansilla, M Adela; Cornell, Robert A; Murray, Jeffrey C; Houston, Douglas W; Manak, J Robert

2018-01-01

Orofacial clefts are one of the most common birth defects, affecting 1-2 per 1000 births, and have a complex etiology. High-resolution array-based comparative genomic hybridization has increased the ability to detect copy number variants (CNVs) that can be causative for complex diseases such as cleft lip and/or palate. Utilizing this technique on 97 nonsyndromic cleft lip and palate cases and 43 cases with cleft palate only, we identified a heterozygous deletion of Isthmin 1 in one affected case, as well as a deletion in a second case that removes putative 3' regulatory information. Isthmin 1 is a strong candidate for clefting, as it is expressed in orofacial structures derived from the first branchial arch and is also in the same "synexpression group" as fibroblast growth factor 8 and sprouty RTK signaling antagonist 1a and 2 , all of which have been associated with clefting. CNVs affecting Isthmin 1 are exceedingly rare in control populations, and Isthmin 1 scores as a likely haploinsufficiency locus. Confirming its role in craniofacial development, knockdown or clustered randomly interspaced short palindromic repeats/Cas9-generated mutation of isthmin 1 in Xenopus laevis resulted in mild to severe craniofacial dysmorphologies, with several individuals presenting with median clefts. Moreover, knockdown of isthmin 1 produced decreased expression of LIM homeobox 8 , itself a gene associated with clefting, in regions of the face that pattern the maxilla. Our study demonstrates a successful pipeline from CNV identification of a candidate gene to functional validation in a vertebrate model system, and reveals Isthmin 1 as both a new human clefting locus as well as a key craniofacial patterning gene. Copyright © 2018 by the Genetics Society of America.

[Middle ear salivary gland choristoma related to branchio-oto-renal syndrome diagnosed by array-CGH].

PubMed

Amrhein, P; Sittel, C; Spaich, C; Kohlhase, J; Boppert, R; Kohlhof, P; Koitschev, A

2014-05-01

Branchio-oto-renal (BOR) syndrome is characterized by ear malformations associated with sensorineural or mixed hearing loss. In addition, preauricular tags, preauricular pits, branchial cleft fistulas and cysts, as well as renal dysplasia are seen. A genetic mutation on chromosome 8, either autosomal dominantly inherited or occuring as a spontaneous mutation, is the cause in the majority of cases. Using array-based comparative genomic hybridization (CGH), it is possible to detect even the smallest genetic changes. Salivary gland choristoma in the middle ear is very rare. Surgical removal and histological clarification are required.

Cervical Chondrocutaneous Branchial Remnants.

PubMed

Ginat, Daniel T; Johnson, Daniel N; Shogan, Andrea; Cipriani, Nicole A

2018-06-01

Cervical chondrocutaneous branchial remnants are rare congenital choristomas. These lesions contain a cartilage core surrounded by skin with adnexal structures and subcutaneous fat. Correspondingly, on ultrasound there is a tubular hypoechoic core surrounded by hyperechoic, while on CT there is central intermediate attenuation surrounded by fat attenuation tissues. These features are exemplified in this sine qua non radiology-pathology correlation article. Management includes complete surgical resection and evaluating for potential associated anomalies, such as other branchial apparatus anomalies, as well as cardiac anomalies.

Distribution, Management Difficulty and Outcome of Branchial Anomalies.

PubMed

Sattar, M A; Sultana, M T; Ahmed, S

2018-01-01

Branchial arch anomalies are one of the most common congenital anomalies of the neck. Developmental anomalies of the branchial apparatus account for 17% of all pediatric cervical masses. This study aimed to focus on proper diagnosis of branchial anomaly and describe occurrence, presentation, management and outcome of usual and unusual types. This ten-year prospective observational study was conducted from November 2005 to November 2015 including 2-year postoperative follow-up of the patients in Department of ENT, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh. Total 89 patients were enrolled for this study. Information was recorded on Clinical examination, relevant investigation, Per-operative findings and Histo-pathological findings. After receiving Histo-pathological findings 61 cases were proved as branchial arch anomalies. Ultrasonography and Histopathology was done for every patient. Fistulogram and sinogram was done for patient of fistula and sinus respectively. CT scan was needed for 9 patients, MRI for 3 patients and 12 patient undergone FNAC. Outcomes of those patients were described in terms of Hospital stay, Complications and Follow up studies. Data analysis was done by Standard Statistical Method.Presentation of a number of participant's mimics Branchial arch anomalies; 4.91% was syndromal. Second branchial arch anomalies were the highest. Management was exclusively surgical. Recurrence rate was about 6.56%. Surgery is the tool for diagnosis, treatment, preventing complications, avoiding carcinoma for branchial arch anomalies.

Branchial cymothoids infesting the marine food fishes of Malabar coast.

PubMed

Panakkool-Thamban, Aneesh; Ameri Kottarathil, Helna; Kappalli, Sudha

2016-12-01

Occurrence of cymothoid isopods parasitizing the branchial chamber of marine food fishes along the Malabar coast was investigated. Live and fresh fishes collected from the Ayyikkara fish landing center (Lat. 11°51'N, Long. 75°22'E; Malabar coast, India) were subjected to the thorough observation for the presence of branchial cymothoids for 3 consecutive years (November 2009-November 2012). Among the recovered cymothoids, 11 species were branchial residents belonging to 6 genera; the species include Agarna malayi, Catoessa gruneri, C. boscii, Joryma hilsae, J. brachysoma, J. engraulidis, J. sawayah, Mothocya collettei, M. renardi, Norileca indica and Ryukyua circularis ; highest prevalence being exhibited by two species of Mothocya , ( M. renardi and M. collettei ) parasitizing the belonidaen fishes, Strongylura leiura (92.15 %) and Tylosurus crocodilus crocodilus (87.2 %) respectively. Except Mothocya species, which preferred the branchial floor for infestation, all recovered branchial cymothoids were found attached the inner wall of the operculum. In several instances, the parasites appeared in male-female pairs, one in each branchial cavity. Ovigerous female members of all species of branchial cymothoids except R. circularis showed remarkable bending either towards left or right depending on whether they are located in right or left branchial cavity of their respective host fishes. The deleterious effects of parasitization by all recovered branchial cymothoids include the formation of a pit like depression in the branchial chamber and atrophy of the gill filament; the damage was more pronounced in the gill cavity of parasitized host fishes where the ovigerous female member was accommodated.

Plunging ranula of the submandibular area

PubMed Central

Sheikhi, Mahnaz; Jalalian, Faranak; Rashidipoor, Roghayeh; Mosavat, Farzaneh

2011-01-01

The term “ranula” is used to describe a diffuse swelling in the floor of the mouth caused by either a mucous extravasation or, less commonly, a mucous retention cyst derived from the major sublingual or submandibular salivary glands. The most common presentation of ranula is a painless, slow-growing, soft, and movable mass located in the floor of the mouth. Ranula may be simple or plunging. Simple ranula often present as masses in the floor of the mouth, limited to the mucous membranes. Diving ranulas extend through the facial plans, usually posterior to the mylohyoid muscle into the neck, and present as cervical masses. Thyroglossal duct cyst, branchial cleft cyst, cystic hygroma, submandibular sialadenitis, intramuscular hemangioma, cystic or neoplastic thyroid disease might be included in differential diagnosis. A variety of surgical procedures have been quoted in the literature ranging from marsupialization, excision of the ranula, sclerotherapy, and excision of the sublingual gland. The recurrence rate varies according to the procedure performed. PMID:23372589

[Observing effect of treatment of the second branchial fistula with endoscopic resection].

PubMed

Jiang, Jiping; Wang, Shuyun; Tong, Kang

2014-03-01

To explore synergic effect of treatment of the second branchial fistula with endoscopic resection. All patients of the second branchial fistula were scanned in neck with CT (computed tomography), we injected ioversol-320 from the entrance of the second branchial fistula in front of sternocleidomastiod into the second branchial fistula, then scanned the neck with CT (computed tomography), and rebuilding the picture of the second branchial fistula, to prepare for the operation. 9 patients of the second branchial fistula were operated under general anesthesia with endoscopic resection. All of 9 patients were cured. no one recurred after follow-up of 6 months. It is minimally invasive and complete to resect the second branchial with endoscopic resection, the operation is simply and easy to promote.

Branchial placenta in the viviparous teleost Ilyodon whitei (Goodeidae).

PubMed

Uribe, Mari Carmen; De la Rosa-Cruz, Gabino; García-Alarcón, Adriana

2014-12-01

Intraluminal gestation, as it occurs in viviparous goodeids, allows a wide diversity of embryo-maternal metabolic exchanges. The branchial placenta occurs in embryos developing in intraluminal gestation when ovarian folds enter through the operculum, into the branchial chamber. The maternal ovarian folds may extend to the embryonic pharyngeal cavity. A branchial placenta has been observed in few viviparous teleosts, and there are not previous histological analyses. This study analysis the histological structure in the goodeid Ilyodon whitei. The moterno ovarian folds extend through the embryonic operculum and reach near the gills, occupying part of the branchial chamber. These folds extend also into the pharyngeal cavity. In some regions, the epithelia of the ovarian folds and embryo were in apposition, developing a placental structure in which, maternal and embryonic capillaries lie in close proximity. The maternal epithelium has desquamated cells which may enter through the branchial chamber to the pharyngeal cavity and the alimentary tract. The complex processes that occur in the ovaries of viviparous teleosts, and its diverse adaptations for viviparity, as the presence of branchial placenta, are relevant in the study of the evolution of vertebrate viviparity. © 2014 Wiley Periodicals, Inc.

[Manifestation of first branchial anomaly:56 cases reportrhinitis].

PubMed

Zhang, B; Chen, L S; Huang, S L; Liang, L; Wu, P N; Zhang, S Y; L, Z M; Liang, L

2016-09-05

Objective: To sum up and conclude manifestation of congenital first branchial anomaly(CFBCA). Method: The clinical data of 56 patients from 2005 to 2015 in our hospital were retrospective reviewed. Result: Manifestation:mass without pain(26.8%),repeated sore and discharge(71.4%),otological symptom(external auditory discharge､hearing loss,28.6%).Eleven cases bacterial sample showed positive result,and most of them show pseudomonas aeruginosa and staphylococcus aureus.Auricular endoscopy typically performed stricture of external auditory canal,cholesteatoma samples accumulated in ear canal,fistula at the conjunction of the bone and cartilage and tympanic membranous attachment.Typical performance of CT(MRI)was that there were cystic,lobulated or tubular abnormal shadow related with ear canal in Pochet's triangle area whose cyst wall or pipe wall could been enhanced in enhanced CT(MRI) scans,and part of that could be connected with skin.The statistical difference between type Oslen and Work and clinical characteristics( P <0.01),and the relationship between type Oslen and Work( P <0.01).Most of Work Ⅰ were cyst type,and these two type often had no infected symptom.Most of them were young patients.Most of Work Ⅱ were sinus and fistula type ,and these two type often had infected symptom.Most of them were teenagers.Part of patients of type Work Ⅱ showed tympanic membranous attachment. Conclusion: CFBCA was rare,and it is more common in young patients and often in left part.It always performed as mass without pain､repeated sore and discharge､external auditory discharge.Most of Work Ⅰ were cyst type,and these two type often had no infected symptom and most of them were young patients .Most of Work Ⅱ were sinus and fistula type,and these two type often had infected symptom and most of them were teenagers.Auricular endoscopy,CT,MRI could help make diagnose.Doctors clinical need to differentiate it with related diseases according to different manifestations

A novel surgical management of hypopharyngeal branchial anomalies.

PubMed

Givens, Daniel J; Buchmann, Luke O; Park, Albert H

2015-04-01

To review our experience treating hypopharyngeal branchial anomalies utilizing an open transcervical approach that: (1) includes recurrent laryngeal nerve (RLN) monitoring and identification if needed; (2) resection of tract if present; and (3) a superiorly based sternothyroid muscle flap for closure. A retrospective chart review was performed to identify all patients at a tertiary level children's hospital with branchial anomalies from 2005 to 2014. The clinical presentation, evaluation, treatment and outcome were analyzed for those patients with hypopharyngeal branchial anomalies. Forty-seven patients who underwent excision of branchial anomalies with a known origin were identified. Thirteen patients had hypopharyngeal branchial anomalies. Six of these patients were treated by the authors of this study and are the focus of this analysis. All six underwent an open transcervical procedure with a sternothyroid muscle flap closure of a piriform sinus opening over a nine year period. Definitive surgery included a microlaryngoscopy and an open transcervical approach to close a fistula between the piriform sinus and neck with recurrent laryngeal nerve monitoring or dissection. A superiorly based sternothyroid muscle flap was used to close the sinus opening. There were no recurrences, recurrent laryngeal nerve injuries or other complications from these procedures. This study supports complete surgical extirpation of the fistula tract using an open cervical approach, recurrent laryngeal nerve monitoring or identification, and rotational muscle flap closure to treat patients with hypopharyngeal branchial anomalies. Published by Elsevier Ireland Ltd.

Dissection and Flat-mounting of the Threespine Stickleback Branchial Skeleton.

PubMed

Ellis, Nicholas A; Miller, Craig T

2016-05-07

The posterior pharyngeal segments of the vertebrate head give rise to the branchial skeleton, the primary site of food processing in fish. The morphology of the fish branchial skeleton is matched to a species' diet. Threespine stickleback fish (Gasterosteus aculeatus) have emerged as a model system to study the genetic and developmental basis of evolved differences in a variety of traits. Marine populations of sticklebacks have repeatedly colonized countless new freshwater lakes and creeks. Adaptation to the new diet in these freshwater environments likely underlies a series of craniofacial changes that have evolved repeatedly in independently derived freshwater populations. These include three major patterning changes to the branchial skeleton: reductions in the number and length of gill raker bones, increases in pharyngeal tooth number, and increased branchial bone lengths. Here we describe a detailed protocol to dissect and flat-mount the internal branchial skeleton in threespine stickleback fish. Dissection of the entire three-dimensional branchial skeleton and mounting it flat into a largely two-dimensional prep allows for the easy visualization and quantification of branchial skeleton morphology. This dissection method is inexpensive, fast, relatively easy, and applicable to a wide variety of fish species. In sticklebacks, this efficient method allows the quantification of skeletal morphology in genetic crosses to map genomic regions controlling craniofacial patterning.

The First Korean Case of Cutaneous Lung Tissue Heterotopia

PubMed Central

Jeon, Ga Won; Han, Seong Woo; Jung, Ji Mi; Kang, Mi Seon

2010-01-01

Cutaneous lung tissue heterotopia is a very rare disorder where mature lung tissues develop in the skin. This is only the second known report of cutaneous lung tissue heterotopia, with the first by Singer et al. in 1998. A newborn infant had a hemangioma-like, freely movable mass connected to the anterior aspect of the sternal manubrium. Pathologic findings showed mature lung tissues with bronchi, bronchioles, and alveoli through the dermis and subcutis, and it was diagnosed as cutaneous lung tissue heterotopia. Cutaneous lung tissue heterotopia is hypervascular, so grossly it looks like a hemangioma. It can be differentiated from pulmonary sequestration, teratoma, bronchogenic cyst, and branchial cleft cyst by histology and the location of the mass. We describe the clinical, radiologic, and pathologic findings of a cutaneous lung tissue heterotopia, the first reported in Korea. PMID:20808688

Dissection and Flat-mounting of the Threespine Stickleback Branchial Skeleton

PubMed Central

Ellis, Nicholas A.; Miller, Craig T.

2016-01-01

The posterior pharyngeal segments of the vertebrate head give rise to the branchial skeleton, the primary site of food processing in fish. The morphology of the fish branchial skeleton is matched to a species' diet. Threespine stickleback fish (Gasterosteus aculeatus) have emerged as a model system to study the genetic and developmental basis of evolved differences in a variety of traits. Marine populations of sticklebacks have repeatedly colonized countless new freshwater lakes and creeks. Adaptation to the new diet in these freshwater environments likely underlies a series of craniofacial changes that have evolved repeatedly in independently derived freshwater populations. These include three major patterning changes to the branchial skeleton: reductions in the number and length of gill raker bones, increases in pharyngeal tooth number, and increased branchial bone lengths. Here we describe a detailed protocol to dissect and flat-mount the internal branchial skeleton in threespine stickleback fish. Dissection of the entire three-dimensional branchial skeleton and mounting it flat into a largely two-dimensional prep allows for the easy visualization and quantification of branchial skeleton morphology. This dissection method is inexpensive, fast, relatively easy, and applicable to a wide variety of fish species. In sticklebacks, this efficient method allows the quantification of skeletal morphology in genetic crosses to map genomic regions controlling craniofacial patterning. PMID:27213248

BRANCHIAL EFFLUX OF HYDROPHOBIC ORGANIC COMPOUNDS BY RAINBOW TROUT (ONCORHYNCHUS MYKISS)

EPA Science Inventory

Development of PBTK models for fish has been impededd by a lack of data on the branchial elimination of hydrophobic compounds. The hypothesis is that branchial efflux of high log Kow compounds proceeds to an equilibrium between the afferent blood and expired water. Branchial effl...

Physiological and molecular ontogeny of branchial and extra-branchial urea excretion in posthatch rainbow trout (Oncorhynchus mykiss)

PubMed Central

Wood, Chris M.

2015-01-01

All teleost fish produce ammonia as a metabolic waste product. In embryos, ammonia excretion is limited by the chorion, and fish must detoxify ammonia by synthesizing urea via the ornithine urea cycle (OUC). Although urea is produced by embryos and larvae, urea excretion (Jurea) is typically low until yolk sac absorption, increasing thereafter. The aim of this study was to determine the physiological and molecular characteristics of Jurea by posthatch rainbow trout (Oncorhynchus mykiss). Following hatch, whole body urea concentration decreased over time, while Jurea increased following yolk sac absorption. From 12 to 40 days posthatch (dph), extra-branchial routes of excretion accounted for the majority of Jurea, while the gills became the dominant site for Jurea only after 55 dph. This represents the most delayed branchial ontogeny of any process studied to date. Urea transporter (UT) gene expression in the gills and skin increased over development, consistent with increases in branchial and extra-branchial Jurea. Following exposure to 25 mmol/l urea, the accumulation and subsequent elimination of exogenous urea was much greater at 55 dph than 12 dph, consistent with increased UT expression. Notably, UT gene expression in the gills of 55 dph larvae increased in response to high urea. In summary, there is a clear increase in urea transport capacity over posthatch development, despite a decrease in OUC activity. PMID:26608657

Cleft Lip and Cleft Palate

MedlinePlus

... to obese women may have increased risk of cleft lip and palate. Males are more likely to have a cleft ... more common in females. In the United States, cleft lip and palate are reportedly most common in Native Americans and ...

Coexistence of bilateral first and second branchial arch anomalies

PubMed Central

Thakur, J S; Shekar, Vidya; Saluja, Manika; Mohindroo, N K

2013-01-01

Branchial arch anomalies are one of the most common congenital anomalies that are usually unilateral and bilateral presentation is rare. The simultaneous presence of bilateral second branchial arch anomalies along with bilateral first arch anomalies is extremely rare, with only three such cases reported in the literature. We present two non-syndromic cases of coexisting bilateral first and second arch anomalies. Developmental anomalies of the branchial apparatus account for 17% of all paediatric cervical masses and are the most common type of congenital cervical mass. They usually present in the paediatric age group. About 96–97% of these anomalies are unilateral. Bilateral presentation is seen in 2–3% having a strong familial association. Congenital syndromes also have been associated with first and second branchial arch anomalies. Thorough clinical examination and investigations should be done to rule out these syndromes. PMID:23580675

Physiological and molecular ontogeny of branchial and extra-branchial urea excretion in posthatch rainbow trout (Oncorhynchus mykiss).

PubMed

Zimmer, Alex M; Wood, Chris M

2016-02-01

All teleost fish produce ammonia as a metabolic waste product. In embryos, ammonia excretion is limited by the chorion, and fish must detoxify ammonia by synthesizing urea via the ornithine urea cycle (OUC). Although urea is produced by embryos and larvae, urea excretion (J(urea)) is typically low until yolk sac absorption, increasing thereafter. The aim of this study was to determine the physiological and molecular characteristics of J(urea) by posthatch rainbow trout (Oncorhynchus mykiss). Following hatch, whole body urea concentration decreased over time, while J(urea) increased following yolk sac absorption. From 12 to 40 days posthatch (dph), extra-branchial routes of excretion accounted for the majority of J(urea), while the gills became the dominant site for J(urea) only after 55 dph. This represents the most delayed branchial ontogeny of any process studied to date. Urea transporter (UT) gene expression in the gills and skin increased over development, consistent with increases in branchial and extra-branchial J(urea). Following exposure to 25 mmol/l urea, the accumulation and subsequent elimination of exogenous urea was much greater at 55 dph than 12 dph, consistent with increased UT expression. Notably, UT gene expression in the gills of 55 dph larvae increased in response to high urea. In summary, there is a clear increase in urea transport capacity over posthatch development, despite a decrease in OUC activity. Copyright © 2016 the American Physiological Society.

Clefting of the Alveolus: Emphasizing the Distinction from Cleft Palate.

PubMed

Wirtz, Nicholas; Sidman, James; Block, William

2016-05-01

Oral clefting is one of the most common significant fetal abnormalities. Cleft lip and cleft palate have drastically different clinical ramifications and management from one another. A cleft of the alveolus (with or without cleft lip) can confuse the diagnostic picture and lead to a false assumption of cleft palate. The cleft alveolus should be viewed on the spectrum of cleft lip rather than be associated with cleft palate. This is made evident by understanding the embryological development of the midface and relevant terminology. Cleft alveolus carries significantly different clinical implications and treatment options than that of cleft palate. Accurately distinguishing cleft alveolus from cleft palate is crucial for appropriate discussions regarding the patient's care. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Chondrogenesis of the branchial skeleton in embryonic sea lamprey, Petromyzon marinus.

PubMed

Morrison, S L; Campbell, C K; Wright, G M

2000-11-01

This study provides concise temporal and spatial characteristics of branchial chondrogenesis in embryonic sea lamprey, Petromyzon marinus, using high resolution light microscopy, transmission electron, and immunoelectron microscopy. Prechondrogenic condensations representing the first branchial arch appeared first in the mid-region of the third pharyngeal arch at 13 days post-fertilization (pf). Cartilage differentiation, defined by the presence of the unique, fibrillar, non-collagenous matrix protein characteristic of branchial cartilage, was first observed at 14 days pf. Development of lamprey branchial cartilage appeared unusual compared to that in jawed fishes, in that precartilage condensations appear as a one-cell wide orderly stack of flattened cells that extend by the addition of one dorsal and one ventral condensation. Development of lamprey gill arches from three condensations that fuse to form a single skeletal element differs from the developing gill arches of jawed fishes, where more than one skeletal element forms from a single condensation. The initial orderly arrangement of cells in the lamprey branchial prechondrogenic condensations remains throughout development. Once chondrification of the condensations begins, the branchial arches start to grow. Initially, growth occurs as a result of matrix secretion and cell migration. Later in development, the arches grow mainly by cell proliferation and enlargement. This study defines the morphology and timing of lamprey branchial chondrogenesis. Studies of lamprey chondrogenesis provide not only insight into the developmental biology of a unique non-collagenous cartilage in a primitive vertebrate but also into the general evolution of the skeletal system in vertebrates. Copyright 2000 Wiley-Liss, Inc.

Cervical chondrocutaneous branchial remnants--report of 17 cases.

PubMed

Begovic, Ninoslav; Simic, Radoje; Vlahovic, Aleksandar; Kravljanac, Djordje; Djuricic, Slavisa; Mijovic, Tanja

2014-11-01

Cervical chondrocutaneous branchial remnants are congenital, benign and rare neck masses. These anomalies are limited in the literature, reported mostly as case reports. Cervical chondrocutaneous branchial remnant is always present at birth, and the lesion is usually unilateral. Understanding and treatment of cervical chondrocutaneous branchial remnants requires knowledge of the related embryology. From January 2005 to December 2008, 17 patients with mean age of 32 months (range from 2 months to 15 years) with CCBRs were treated at the Division of Pediatric Surgery, Department of Plastic and Reconstructive Surgery and Burns at the Institute for Mother and Child Health Care, Belgrade, Serbia. The following objections were recorded: sex, lesion side, surgical data, associated malformations and pathohistology findings. There were 7 females and 10 males, 4 with bilateral presences. Five children had associated anomalies, as follows: vesicoureteral reflux, atrial and ventricular septal defect, ventricular septal defect, branchiootorenal syndrome and preauricular sinus. There was a positive family history in one patient. Fifteen patients (88%) were treated with complete surgical excision and no connections with deep underlying structures of the neck were found. There were no complications at surgery. No recurrence was found during follow-up. Histopathology analysis revealed both, hyaline and elastic cartilage. Cervical chondrocutaneous branchial remnants are rare anomalies arising from branchial arch, probably originally from remnants of first or second arch. Surgical excision is the treatment of choice. From our experience, we suggest surgical treatment early in childhood because of esthetic reason, simplicity of the intervention and low complication rate. Also, the abdominal ultrasound and cardiac examination is recommended because of associated anomalies. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Congenital Mucous Retention Cyst of the Anterior Hard Palate! the First Case Report

PubMed Central

Priyadarshini, Smita; Pati, Abhishek Ranjan; Bhuyan, Sanat Kumar; Panigrahi, Rajat G

2014-01-01

Children may be born with birth defects, the most common being oro-facial clefts and fissural cysts. A well circumscribed pedunculated soft tissue growth that occurs congenitally is known as congenital epulis of the newborn or ‘Neuman’s Tumour’ as described in the literature. It is a rare lesion and the diagnosis has to be confirmed histologically. We present a rare case of a 7-year-old child with a congenital growth in the pre-maxillary region of the anterior hard palate clinically diagnosed as congenital epulis however, histologically confirmed as a mucous retention cyst. An elaborate clinical differential diagnosis is discussed. The anterior hard palate is devoid of salivary glands and the presence of a mucous retention cyst in the area is suggestive of ectopic salivary gland tissue and in a child manifesting at birth is probably the first case to be reported in the English literature. PMID:25478467

Congenital mucous retention cyst of the anterior hard palate! The first case report.

PubMed

Misra, Satya Ranjan; Priyadarshini, Smita; Pati, Abhishek Ranjan; Bhuyan, Sanat Kumar; Panigrahi, Rajat G

2014-10-01

Children may be born with birth defects, the most common being oro-facial clefts and fissural cysts. A well circumscribed pedunculated soft tissue growth that occurs congenitally is known as congenital epulis of the newborn or 'Neuman's Tumour' as described in the literature. It is a rare lesion and the diagnosis has to be confirmed histologically. We present a rare case of a 7-year-old child with a congenital growth in the pre-maxillary region of the anterior hard palate clinically diagnosed as congenital epulis however, histologically confirmed as a mucous retention cyst. An elaborate clinical differential diagnosis is discussed. The anterior hard palate is devoid of salivary glands and the presence of a mucous retention cyst in the area is suggestive of ectopic salivary gland tissue and in a child manifesting at birth is probably the first case to be reported in the English literature.

TREM-1 expression in craniopharyngioma and Rathke's cleft cyst: its possible implication for controversial pathology.

PubMed

Liu, Yi; Wang, Chao-Hu; Li, Dan-Ling; Zhang, Shi-Chao; Peng, Yu-Ping; Peng, Jun-Xiang; Song, Ye; Qi, Song-Tao; Pan, Jun

2016-08-02

Whether a mixed type of craniopharyngioma (CP) exists and whether papillary craniopharyngioma (pCP) is on a histopathological continuum with Rathke's cleft cyst (RCC) remain controversial. Herein, we examined the expression and localization of β-catenin, BRAF p.V600E (V600E), and triggering receptor expressed on myeloid cells-1 (TREM-1) in 58 samples including 20 pCPs, 26 adamantinomatous craniopharyngiomas (aCP), and 12 RCCs. Five aCPs were diagnosed with mixed type CPs and the remaining 21 cases were pure aCPs. Four of the 12 RCCs presented with significant squamous epithelium (SE). V600E immunoreactivity was observed in all pCPs in the cytoplasm, but not in the nuclei. aCPs and RCCs, including mixed type CP, did not express V600E. Nuclear β-catenin translocation was detected exclusively in aCPs. TREM-1 was expressed in pCPs. Additionally, TREM-1 expression was detected in the SE of 5 "mixed type" CPs, while it was absent in pure aCPs. TREM-1 was expressed in 4 RCCs with SE, but not in the remaining 8 RCCs. TREM-1 mRNA levels were compared in cultured pCP and aCP cells. TREM-1 mRNA level was significantly (p < 0.001; up to 4.045 fold) higher in pCPs than in aCPs. Western blotting revealed a significantly (p < 0.001; up to 7.19 fold) lower level of TREM-1 expression in aCP cells compared to that in pCP cells. Our findings further supported that RCC and pCP may represent two ends of a morphological spectrum. A variant showing overlapping histological features of aCP and pCP should not be considered as a mixed type.

The canonical Wnt signaling activator, R-spondin2, regulates craniofacial patterning and morphogenesis within the branchial arch through ectodermal-mesenchymal interaction

PubMed Central

Jin, Yong-Ri; Turcotte, Taryn J.; Crocker, Alison L.; Han, Xiang Hua; Yoon, Jeong Kyo

2011-01-01

R-spondins are a recently characterized family of secreted proteins that activate Wnt/β-catenin signaling. Herein, we determine R-spondin2 (Rspo2) function in craniofacial development in mice. Mice lacking a functional Rspo2 gene exhibit craniofacial abnormalities such as mandibular hypoplasia, maxillary and mandibular skeletal deformation, and cleft palate. We found that loss of the mouse Rspo2 gene significantly disrupted Wnt/β-catenin signaling and gene expression within the first branchial arch (BA1). Rspo2, which is normally expressed in BA1 mesenchymal cells, regulates gene expression through a unique ectoderm-mesenchyme interaction loop. The Rspo2 protein, potentially in combination with ectoderm-derived Wnt ligands, up-regulates Msx1 and Msx2 expression within mesenchymal cells. In contrast, Rspo2 regulates expression of the Dlx5, Dlx6, and Hand2 genes in mesenchymal cells via inducing expression of their upstream activator, Endothelin1 (Edn1), within ectodermal cells. Loss of Rspo2 also causes increased cell apoptosis, especially within the aboral (or caudal) domain of the BA1, resulting in hypoplasia of the BA1. Severely reduced expression of Fgf8, a survival factor for mesenchymal cells, in the ectoderm of Rspo2−/− embryos is likely responsible for increased cell apoptosis. Additionally, we found that cleft palate in Rspo2−/− mice is not associated with defects intrinsic to the palatal shelves. A possible cause of cleft palate is a delay of proper palatal shelf elevation that may result from the small mandible and a failure of lowering the tongue. Thus, our study identifies Rspo2 as a mesenchyme-derived factor that plays critical roles in regulating BA1 patterning and morphogenesis through ectodermal-mesenchymal interaction and a novel genetic factor for cleft palate. PMID:21237142

The fourth branchial complex anomaly: a rare clinical entity.

PubMed

Patel, Alpen B; Hinni, Michael L

2011-01-01

Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies.

BRANCHIAL ELIMINATION OF SUPERHYDROPHOBIC ORGANIC COMPOUNDS BY RAINBOW TROUT (ONCORHYNCHUS MYKISS)

EPA Science Inventory

The branchial elimination of pentachloroethane and four congeneric polychlorinated bephenyls by rainbow trout was measured using a fish respirometer-metabolism chamber and an adsorption resin column. Branchial elimination was characterized by calculating a set of apparent in vivo...

Case series: Endoscopic management of fourth branchial arch anomalies.

PubMed

Watson, G J; Nichani, J R; Rothera, M P; Bruce, I A

2013-05-01

Fourth branchial arch anomalies represent <1% of all branchial anomalies and present as recurrent neck infections or suppurative thyroiditis. Traditionally, management has consisted of treatment of the acute infection followed by hemithyroidectomy, surgical excision of the tract and obliteration of the opening in the pyriform fossa. Recently, it has been suggested that endoscopic obliteration of the sinus tract alone using laser, chemo or electrocautery is a viable alternative to open surgery. To determine the results of endoscopic obliteration of fourth branchial arch fistulae in children in our institute. Retrospective case note review of all children undergoing endoscopic treatment of fourth branchial arch anomalies in the last 7 years at the Royal Manchester Children's Hospital. Patient demographics, presenting symptoms, investigations and surgical technique were analysed. The primary and secondary outcome measures were resolution of recurrent infections and incidence of surgical complications, respectively. In total 5 cases were identified (4 females and 1 male) aged between 3 and 12 years. All presented with recurrent left sided neck abscesses. All children underwent a diagnostic laryngo-tracheo-bronchoscopy which identified a sinus in the apex of the left pyriform fossa. This was obliterated using electrocautery in 1 patient, CO₂ laser/Silver Nitrate chemocautery in 2 patients and Silver Nitrate chemocautery in a further 2 patients. There were no complications and no recurrences over a mean follow-up period of 25 months (range 11-41 months). Endoscopic obliteration of pyriform fossa sinus is a safe method for treating fourth branchial arch anomalies with no recurrence. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

The Fourth Branchial Complex Anomaly: A Rare Clinical Entity

PubMed Central

Patel, Alpen B.; Hinni, Michael L.

2011-01-01

Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies. PMID:22937376

Cleft Palate

PubMed Central

Kosowski, Tomasz R.; Weathers, William M.; Wolfswinkel, Erik M.; Ridgway, Emily B.

2012-01-01

Our understanding of cleft palates has come a long way over the last few decades. A better understanding of the long-term consequences of a cleft palate and its effect on speech development challenges surgeons to not only effectively repair the cleft, but to also restore function of the palate for adequate speech. Coordination with speech pathologists is integral for effective management of cleft palate patients, particularly as children begin to develop language. In this article, the authors review and summarize the various challenges and goals of cleft palate management. PMID:24179449

Cleft Lip and Palate

MedlinePlus

... Safe Videos for Educators Search English Español Cleft Lip and Cleft Palate KidsHealth / For Kids / Cleft Lip and Cleft Palate ... the back of your mouth. What's a Cleft Lip or Cleft Palate? The word cleft means a gap or split ...

Cleft palate - resources

MedlinePlus

Resources - cleft palate ... The following organizations are good resources for information on cleft palate : Cleft Palate Foundation -- www.cleftline.org March of Dimes -- www.marchofdimes.org/complications/cleft-lip-and- ...

Midline cervical cleft: a rare congenital anomaly.

PubMed

Renukaswamy, Gayathri Mandya; Soma, Marlene A; Hartley, Benjamin E J

2009-11-01

A midline cervical cleft (MCC) is a rare congenital anomaly due to failure of fusion of the first and second branchial arches during embryogenesis. It may present as a midline defect of the anterior neck skin with a skin projection or sinus, or as a subcutaneous fibrous cord. This report evaluates the clinical features and surgical management of an MCC. We analyzed a series of 4 patients with an MCC successfully treated at Great Ormond Street Hospital for Children in London. Three male patients and 1 female patient between 4 and 11 months of age were found to have an MCC. Each patient presented with an erythematous, fibrous band of tissue extending between the chin and the suprasternal notch. Treatment comprised surgical excision of the lesion and Z-plasty repair. We present the embryology, common clinical presentation, investigations, differential diagnosis, and histology, along with a literature review, of this uncommon malformation of the anterior neck. An MCC is a differential diagnosis to consider when assessing a child with a midline cervical lesion. Early surgical excision with Z-plasty repair of the soft tissue defect is the treatment of choice to prevent long-term complications.

Case report of bilateral cervical chondrocutaneous branchial remnants.

PubMed

Braun, Hannes; Hofmann, Thiemo; Wolfgruber, Herwig; Anderhuber, Wolfgang; Beham, Alfred; Stammberger, Heinz

2003-01-01

Cervical chondrocutaneous branchial remnants are rare and not well known lesions. Histologically the lesion per definition presents as a Choristoma. Choristoma is the pathohistological term for a developmental tumor-like anomaly consisting of tissues foreign to the site at which it is located. Treatment is complete surgical removal as promptly as possible in order to get an exact histopathological diagnosis. A case of a 4-month-old boy with cervical chondrocutaneous branchial remnants anterior to the sternocleidomastoid muscles on both sides is presented. According to literature search this appears to be the second case published on such a bilateral lesion.

Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.

PubMed

Schoner, Katharina; Kohlhase, Juergen; Müller, Annette M; Schramm, Thomas; Plassmann, Margit; Schmitz, Ralf; Neesen, Juergen; Wieacker, Peter; Rehder, Helga

2013-01-01

Fetal pathology aims to recognize syndromal patterns of anomalies for goal-directed mutation analyses, genetic counseling, and early prenatal diagnosis in consecutive pregnancies. Here, we report on five fetuses with Peters' plus syndrome (PPS) from two distinct families aborted after prenatal ultrasound diagnosis of hydrocephaly. We performed fetal autopsies and molecular analyses. Among 44 fetuses with prenatally diagnosed hydrocephaly, four fetuses of 16 to 21 gestational weeks presented with additional cleft lip/palate and/or agenesis of the corpus callosum. Other features were growth retardation, hypertelorism, anomalies of the eyes, in part consistent with Peters' anterior chamber anomalies, mild brachymelia, brachydactyly, and also internal anomalies. Suspected PPS was confirmed by detection of B3GALTL mutation in these four fetuses and in one additional sib fetus, revealing homozygosity for the common c.660 + 1G > A donor splice site mutation in intron 8. Autosomal-recessive PPS has not yet been diagnosed prenatally. We want to alert ultrasonographers to the diagnosis of this disorder in growth-retarded fetuses with (recurrent) hydrocephaly, agenesis of the corpus callosum, and cleft lip/palate and stress the more severe fetal manifestation, describing a first such case with additional Dandy-Walker cyst and occult meningoencephalocele. © 2012 John Wiley & Sons, Ltd.

Cleft Lip and Palate

MedlinePlus

Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. They happen early during ... A baby can have a cleft lip, a cleft palate, or both. A cleft lip happens if the ...

Unilateral Cleft Hand with Cleft Foot

PubMed Central

Baba, Asif Nazir; Bhat, Yasmeen J.; Ahmed, Sheikh Mushtaq; Nazir, Abid

2009-01-01

Congenital anomalies of the hand form an important class of congenital malformations. They have a huge functional importance because of the part played by the hand in the daily activities of a person. The deformities also have significant cosmetic significance and may also be associated with other anomalies. Amongst the congenital anomalies, central deficiency or cleft hand is relatively rare. The association of cleft foot with cleft hand is an even more rare occurance. We present a case report of a 6 year old child, born of a non-consanginous marriage, having congenital central deficiency of ipsilateral hand and foot. PMID:21475543

Prevalence of cleft lip and cleft palate in rural north-central guatemala.

PubMed

Matute, Jorge; Lydick, Elaine A; Torres, Olga R; Owen, Karen K; Jacobsen, Kathryn H

2015-05-01

To estimate the number of new cases of cleft lip and cleft palate in the department (state) of Alta Verapaz, Guatemala, in 2012. Cross-sectional survey of midwives from communities identified through a two-stage cluster-sampling process. Midwives were asked how many babies they had delivered in the past year and how many of those newborns had various types of birth defects, as illustrated in pictures. Indigenous Mayan communities in rural north-central Guatemala. Midwives (n = 129) who had delivered babies in the previous year. Reports of babies born with cleft lip and cleft palate. A 1-year prevalence rate of 18.9 per 10,000 for cleft lip and 4.7 per 10,000 for cleft palate was estimated for Alta Verapaz. None of the cases of cleft lip also had cleft palate. The indigenous communities in north-central Guatemala might have a relatively high cleft lip prevalence rate compared with the global average.

Lip prints and inheritance of cleft lip and cleft palate.

PubMed

Cj, Manasa Ravath; Hc, Girish; Murgod, Sanjay; Hegde, Ramesh B; Jk, Savita

2014-07-01

Labial mucosa has elevations and depressions forming a pattern called 'Lip Prints'. Parents of patients with cleft lip &/or palate are known to have a particular lip print pattern. Analysis of lip prints and relationship between Cheiloscopy and inheritance of cleft lip &/or cleft palate. The study included 100 subjects [study groupparents with children having cleft lip &/or cleft palate, 50 fathers and 50 mothers) and 50 subjects (control group-parents having children without cleft lip &/or cleft palate, 25 fathers and 25 mothers. The lip prints of the subjects were obtained using the cellophane method and analysed using Suzuki & Tsuchihashi classification of lip prints. The data was subjected to Chi- Square test, Fisher Exact test and Student t-test [two tailed, independent]. A new whorl pattern was present in the study group. The groove count was higher in the fathers' than in the mothers' prints in the upper lip and vice versa in the lower lip. The new pattern was present in the study group in a significant number of cases. The groove count was significantly high in the study group. These two parameters can be of significant value to similar future studies.

Complications in head and neck surgery.

PubMed

Christison-Lagay, Emily

2016-12-01

Head and neck anatomy is topographically complex and the region is densely populated by vital nerves and vascular and lymphatic structures. Injury to many of these structures is associated with significant morbidity and may even be fatal. A thorough knowledge of regional anatomy is imperative and complications need to be managed in a thoughtful directed manner. The pediatric surgeon may be called upon to address both congenital and acquired conditions and should be prepared to encounter reoperative fields after failed initial surgery. This review summarizes the current literature on four frequently encountered surgical conditions of the head and neck: branchial cleft anomalies, thyroglossal duct cyst, thyroid disease, and lymphatic malformations, with a focus on the prevention and treatment of complications. Copyright © 2016 Elsevier Inc. All rights reserved.

Cleft Lip Repair, Nasoalveolar Molding, and Primary Cleft Rhinoplasty.

PubMed

Bhuskute, Aditi A; Tollefson, Travis T

2016-11-01

Cleft lip and palate are the fourth most common congenital birth defect. Management requires multidisciplinary care owing to the complexity of these clefts on midface growth, dentition, Eustachian tube function, and lip and nasal cosmesis. Repair requires planning, but can be performed systematically to reduce variability of outcomes. The use of primary rhinoplasty at the time of cleft lip repair can improve nose symmetry and reduce nasal deformity. Use of nasoalveolar molding ranging from lip taping to the use of preoperative infant orthopedics has played an important role in improving functional and cosmetic results of cleft lip repair. Copyright © 2016 Elsevier Inc. All rights reserved.

Assessment of patients' level of satisfaction with cleft treatment using the Cleft Evaluation Profile.

PubMed

Noor, Siti Noor Fazliah Mohd; Musa, Sabri

2007-05-01

Determination of the psychosocial status and assessment of the level of satisfaction in Malaysian cleft palate patients and their parents. Cross-sectional study. Sixty cleft lip and palate patients (12 to 17 years of age) from Hospital Universiti Sains Malaysia and their parents were selected. The questionnaires used were the Child Interview Schedule, the Parents Interview Schedule, and the Cleft Evaluation Profile (CEP), administered via individual interviews. Patients were teased because of their clefts and felt their self-confidence was affected by the cleft condition. They were frequently teased about cleft-related features such as speech, teeth, and lip appearance. Parents also reported that their children were being teased because of their clefts and that their children's self-confidence was affected by the clefts. Both showed a significant level of satisfaction with the treatment provided by the cleft team. There was no significant difference between the responses of the patients and their parents. The features that were found to be most important for the patients and their parents, in decreasing order of priority, were teeth, nose, lips, and speech. Cleft lip and/or palate patients were teased because of their clefts, and it affected their self-confidence. The Cleft Evaluation Profile is a reliable and useful tool to assess patients' level of satisfaction with treatment received for cleft lip and/or palate and can identify the types of cleft-related features that are most important for the patients.

Lip Prints and Inheritance of Cleft Lip and Cleft Palate

PubMed Central

CJ, Manasa Ravath; HC, Girish; Hegde, Ramesh B; JK, Savita

2014-01-01

Background: Labial mucosa has elevations and depressions forming a pattern called ‘Lip Prints’. Parents of patients with cleft lip &/or palate are known to have a particular lip print pattern. Objectives: Analysis of lip prints and relationship between Cheiloscopy and inheritance of cleft lip &/or cleft palate. Methodology: The study included 100 subjects [study groupparents with children having cleft lip &/or cleft palate, 50 fathers and 50 mothers) and 50 subjects (control group-parents having children without cleft lip &/or cleft palate, 25 fathers and 25 mothers. The lip prints of the subjects were obtained using the cellophane method and analysed using Suzuki & Tsuchihashi classification of lip prints. The data was subjected to Chi- Square test, Fisher Exact test and Student t-test [two tailed, independent]. Results: A new whorl pattern was present in the study group. The groove count was higher in the fathers’ than in the mothers’ prints in the upper lip and vice versa in the lower lip. Conclusion: The new pattern was present in the study group in a significant number of cases. The groove count was significantly high in the study group. These two parameters can be of significant value to similar future studies. PMID:25177633

First Branchial Arch Fistula: A Rarity and a Surgical Challenge.

PubMed

Rajkumar, J S; Ganesh, Deepa; Anirudh, J R; Akbar, S; Joshi, Niraj

2016-06-01

Although 2(nd) Branchial arch fistulae (from incomplete closure of Cervical sinus of His) are well known, 1(st) arch fistulae are much rarer (<10%) and are usually not tackled comprehensively. We present a case of a rare first branchial arch fistula of the type II Arnot classification, which presented with two external openings of more than 20 years duration. Patient had a successful resection of all the concerned fistulous tract. Review of literature and the surgical challenges of the procedure are presented herewith.

A true branchial fistula in the context of branchiootic syndrome: challenges of diagnosis and management.

PubMed

Jovic, Thomas H; Saldanha, Francesca; Kuo, Rachel; Ahmad, Tariq

2014-09-01

The presence of a branchial fistula with communication both internally and externally: a 'true' branchial fistula is rare, and may arise in the context of autosomal dominant conditions such as branchiootic syndrome and branchiootorenal syndrome. We discuss the case of a true branchial fistula, which recurred after initial surgical excision, in a patient with branchiootic syndrome. The residual tract was dissected in a second operation through stepladder neck incisions and removed in toto via an intraoral approach. No renal abnormalities were detected on investigation with ultrasound. Incomplete excision of a branchial sinus is likely to cause recurrence however intraoperative visualisation of the tract can can sometimes prove challenging. An combined intraoral and external approach aids delineation and tract definition when there is a true branchial fistula and can therefore facilitate a complete excision. Suspicion of an hereditary aetiology should be raised in patients with bilateral or preauricular features, or a positive family history, which may then prompt additional renal and genetic investigation. Copyright © 2014 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

Bright Promise for Your Child with Cleft Lip and Cleft Palate. Revised Edition.

ERIC Educational Resources Information Center

McDonald, Eugene T.; Berlin, Asa J.

Intended for parents of children with cleft lip and cleft palate, the booklet provides an overview of the condition. Addressed are the following topics (sample subtopics in parentheses): prenatal development and birth defects (facial development); possible causes of cleft lip/cleft palate (common misconceptions, genetic factors, environmental…

A model to environmental monitoring based on glutathione-S-transferase activity and branchial lesions in catfish

NASA Astrophysics Data System (ADS)

Neta, Raimunda Nonata Fortes Carvalho; Torres, Audalio Rebelo

2017-11-01

In this work, we validate the glutathione-S-transferase and branchial lesions as biomarkers in catfish Sciades herzbergii to obtain a predictive model of the environmental impact effects in a harbor of Brazil. The catfish were sampled from a port known to be contaminated with heavy metals and organic compounds and from a natural reserve in São Marcos Bay, Maranhão. Two biomarkers, hepatic glutathione S-transferase (GST) activity and branchial lesions were analyzed. The values for GST activity were modeled with the occurrence of branchial lesions by fitting a third order polynomial. Results from the mathematical model indicate that GST activity has a strong polynomial relationship with the occurrence of branchial lesions in both the wet and the dry seasons, but only at the polluted port site. Our mathematic model indicates that when the GST ceases to act, serious branchial lesions are observed in the catfish of the contaminated port area.

Branchial Cilia and Sperm Flagella Recruit Distinct Axonemal Components

PubMed Central

Konno, Alu; Shiba, Kogiku; Cai, Chunhua; Inaba, Kazuo

2015-01-01

Eukaryotic cilia and flagella have highly conserved 9 + 2 structures. They are functionally diverged to play cell-type-specific roles even in a multicellular organism. Although their structural components are therefore believed to be common, few studies have investigated the molecular diversity of the protein components of the cilia and flagella in a single organism. Here we carried out a proteomic analysis and compared protein components between branchial cilia and sperm flagella in a marine invertebrate chordate, Ciona intestinalis. Distinct feature of protein recruitment in branchial cilia and sperm flagella has been clarified; (1) Isoforms of α- and β-tubulins as well as those of actins are distinctly used in branchial cilia or sperm flagella. (2) Structural components, such as dynein docking complex, tektins and an outer dense fiber protein, are used differently by the cilia and flagella. (3) Sperm flagella are specialized for the cAMP- and Ca2+-dependent regulation of outer arm dynein and for energy metabolism by glycolytic enzymes. Our present study clearly demonstrates that flagellar or ciliary proteins are properly recruited according to their function and stability, despite their apparent structural resemblance and conservation. PMID:25962172

Role of Dlx6 in regulation of an endothelin-1-dependent, dHAND branchial arch enhancer

PubMed Central

Charité, Jeroen; McFadden, David G.; Merlo, Giorgio; Levi, Giovanni; Clouthier, David E.; Yanagisawa, Masashi; Richardson, James A.; Olson, Eric N.

2001-01-01

Neural crest cells play a key role in craniofacial development. The endothelin family of secreted polypeptides regulates development of several neural crest sublineages, including the branchial arch neural crest. The basic helix–loop–helix transcription factor dHAND is also required for craniofacial development, and in endothelin-1 (ET-1) mutant embryos, dHAND expression in the branchial arches is down-regulated, implicating it as a transcriptional effector of ET-1 action. To determine the mechanism that links ET-1 signaling to dHAND transcription, we analyzed the dHAND gene for cis-regulatory elements that control transcription in the branchial arches. We describe an evolutionarily conserved dHAND enhancer that requires ET-1 signaling for activity. This enhancer contains four homeodomain binding sites that are required for branchial arch expression. By comparing protein binding to these sites in branchial arch extracts from endothelin receptor A (EdnrA) mutant and wild-type mouse embryos, we identified Dlx6, a member of the Distal-less family of homeodomain proteins, as an ET-1-dependent binding factor. Consistent with this conclusion, Dlx6 was down-regulated in branchial arches from EdnrA mutant mice. These results suggest that Dlx6 acts as an intermediary between ET-1 signaling and dHAND transcription during craniofacial morphogenesis. PMID:11711438

Cleft Palate; A Multidiscipline Approach.

ERIC Educational Resources Information Center

Stark, Richard B., Ed.

Nineteen articles present a multidisciplinary approach to the management of facial clefts. The following subjects are discussed: the history of cleft lip and cleft palate surgery; cogenital defects; classification; the operation of a cleft palate clinic; physical examination of newborns with cleft lip and/or palate; nursing care; anesthesia;…

Dental anomalies inside the cleft region in individuals with nonsyndromic cleft lip with or without cleft palate.

PubMed

Sá, Jamile; Araújo, Luana; Guimarães, Laís; Maranhão, Samário; Lopes, Gabriela; Medrado, Alena; Coletta, Ricardo; Reis, Silvia

2016-01-01

Individuals with nonsyndromic cleft lip with or without cleft palate (NSCL±P) present high frequency of dental anomalies, which may represent complicating factors for dental treatment. The aim of this study was to investigate the prevalence of dental anomalies inside cleft area in a group of Brazilians with NSCL±P. Retrospective analysis of 178 panoramic radiographs of patients aged from 12 to 45 years old and without history of tooth extraction or orthodontic treatment was performed. Association between cleft type and the prevalence of dental anomalies was assessed by chi-square test with a significance level set at p≤ 0.05. Dental anomalies were found in 88.2% (n=157) of the patients. Tooth agenesis (47.1%), giroversion (20%) and microdontia (15.5%) were the most common anomalies. Individuals with unilateral complete cleft lip and palate (CLP, p<0.0001), bilateral complete CLP (p=0.0002) and bilateral incomplete CLP (p< 0.0001) were more affected by tooth agenesis than individuals with other cleft types. The maxillary lateral incisors were the most affected teeth (p<0.0001). The present study revealed a high frequency of dental anomalies inside cleft region in NSCL±P patients, and further demonstrated that patients with unilateral complete CLP and bilateral incomplete CLP were frequently more affected by dental anomalies. Moreover, our results demonstrate that dental anomalies should be considered during dental treatment planning of individuals affected by NSCL±P.

Value-based cleft lip-cleft palate care: a progress report.

PubMed

Abbott, Megan M; Meara, John G

2010-09-01

The health care debate in the United States centers on a concept that is fundamental to any service-based profession yet minimally integrated into the health care community: value creation. Value in health care has been defined as outcome achieved per dollar spent, and focuses on the patient. Many of the new strategies proposed to restructure health care delivery in the United States aim to study and improve both components of this equation. Indeed, it is a near guarantee that providers will soon be responsible for reporting their outcomes and resource use and will be benchmarked by these metrics. In addition, patients have a right to understand the value they receive from their care providers. In this report, the authors evaluate the current state of preparedness for the assessment of value in care delivery in the field of cleft lip-cleft palate based on literature review. There has been important progress in the definition and assessment of basic outcomes in cleft lip-cleft palate care, largely through formation of intercenter collaborations. However, many fundamental challenges face the cleft community, especially in North America. Standardization of data collection and outcomes measurement and reporting are particularly lacking. In addition, few data exist regarding the cost of cleft care. The weight of the evidence reveals that the cleft community is not prepared to assess, and thus improve, the value offered to patients. The authors address key challenges and outline future directions.

Prevalence of dental anomalies in children with cleft lip and unilateral and bilateral cleft lip and palate.

PubMed

Rullo, R; Festa, V M; Rullo, R; Addabbo, F; Chiodini, P; Vitale, M; Perillo, L

2015-09-01

To examine the prevalence of different types of dental anomalies in children with nonsyndromic cleft lip, unilateral cleft lip-palate, and bilateral cleft lip-palate. A sample of 90 patients (aged 4-20 years) affected by isolated cleft lip, unilateral and bilateral cleft lip and palate was examined. Cleft patients were classified into one of three groups according to cleft type: (1) Unilateral Cleft Lip-Palate, (2) Bilateral Cleft Lip-Palate, and (3) Cleft Lip. Intraoral exams, panoramic radiographs and dental casts, were used to analyse the prevalence of the various dental anomalies included in this study. There were no statistically significant differences between patients with cleft lip, unilateral cleft lip and palate and bilateral cleft lip and palate. The congenital absence of the cleft-side lateral incisor was observed in 40% of the sample, and a total of 30% patients showed supernumerary teeth at the incisors region. Second premolar agenesis was found in 4.4% of patients, whereas in 18.9% of the sample there was an ectopic dental eruption. Lateral or central incisors rotation was noted in 31.1% of the sample, while shape anomaly, lateral incisor microdontia, and enamel hypoplasia were detected respectively in 25.6%, 5.6% and 18.9% of cleft patients. High prevalence of different dental anomalies in children with cleft lip and unilateral and bilateral cleft lip and palate has been confirmed. This study, in particular, shows the presence of ectopic and rotated teeth in the cleft area.

Cleft Lip and Palate Repair.

PubMed

Gatti, Gian Luca; Freda, Nicola; Giacomina, Alessandro; Montemagni, Marina; Sisti, Andrea

2017-11-01

Cleft lip and palate is the most frequent congenital craniofacial deformity. In this article, the authors describe their experience with cleft lip and palate repair. Data regarding patients presenting with primary diagnosis of cleft lip and/or palate, between 2009 and 2015, were reviewed. Details including demographics, type of cleft, presence of known risk factors, surgical details, and follow-up visits were collected. Documented complications were reported. Caregivers' satisfaction was assessed with a survey. The survey used to assess satisfaction with cleft-related features was based on the cleft evaluation profile (CEP). In addition, 4 assessors used visual analog scale (VAS) to assess the aesthetic satisfaction. Seven hundred fifty-two patients with primary diagnosis of cleft lip and/or palate underwent surgical correction at "S. Chiara" Hospital, 432 (57.45%) male and 320 (42.55%) female. The most common cleft types in our study were incomplete cleft palate (152 patients) and left unilateral complete cleft lip and palate (152 patients). Associated syndromes were found in 46 patients (6.12%). Cleft lip was repaired using a modified Tennison-Randall technique when the defect was unilateral, whereas a modified Mulliken technique was used for bilateral cleft lip. Cleft palate was repaired using the Bardach technique or Von Langenbeck technique at 5 to 6 months of age. Cleft lip and palate was repaired in several surgical steps. In total, complications were reported in 81 of 752 patients (14.16%). Average fathers' satisfaction score assessed using CEP was 4.5 (lip), 4.8 (nose), 4.7 (teeth), 4.8 (bite), 4.2 (breathing), 4.6 (profile). Average mothers' satisfaction score assessed using CEP was 4.3 (lip), 4.6 (nose), 4.4 (teeth), 4.5 (bite), 4.1 (breathing), 4.4 (profile). Average level of aesthetic satisfaction, assessed using VAS, was 8.7 (fathers), 8.1 (mothers), 7.9 (lay person), and 8.0 (senior cleft surgeon). The multidisciplinary management of children with

The "Double" Tessier 7 Cleft: An Unusual Presentation of a Transverse Facial Cleft.

PubMed

Raveendran, Janani A; Chao, Jerry W; Rogers, Gary F; Boyajian, Michael J

2018-07-01

Congenital macrostomia, or Tessier number 7 cleft, is a rare craniofacial anomaly. We present a unique patient with bilateral macrostomia that consisted of a "double" transverse cleft on the left side and a single transverse cleft on the right side. A staged reconstructive approach was used to repair the "double" left-sided clefts. This staged technique produced a satisfactory aesthetic and functional outcome.

Recurrent neck infection with branchial arch fistula in children.

PubMed

Madana, J; Yolmo, Deeke; Kalaiarasi, R; Gopalakrishnan, S; Saxena, S K; Krishnapriya, S

2011-09-01

Acute suppurative neck infections associated with third or fourth branchial arch fistulas are frequently recurrent. Third and fourth branchial arch anomalies are much less common than those of second arch and usually present with left thyroid lobe inflammation. The authors present their experience with 15 cases of pyriform sinus fistulae (PSF) of third branchial arch origin and 3 cases of fourth arch origin, all of which presented as recurrent neck infection mainly on the left side. A retrospective review of 18 cases of third and fourth arch fistulae treated at JIPMER from 2005 to 2010. This study includes 18 patients with PSF diagnosed by the existence of fistulous tract radiologically and intraoperatively with pathological correlation. Neck exploration with excision of tract and left hemithyroidectomy was performed in all cases. The patients consisted of 7 males and 11 females, and the ages ranged from 3 to 15 years. All of them presented with recurrent episodes of neck infection. Investigations performed include computed tomography (CT) fistulography, barium swallow and ultrasound which were useful in delineating pyriform sinus fistulous tract preoperatively. All cases were on the left side and the fistula was identified by barium swallow in 14 cases (80%), while intraoperative and pathologic confirmation of the tract was possible in all cases (100%). Neck exploration with an emphasis on complete exposure of the recurrent laryngeal nerve and exposure of the pyriform sinus opening to facilitate complete fistulous tract excision with left hemithyroidectomy was successful in all patients. A follow up period of 1-3 years showed no recurrence. Recurrent neck infection in a child should alert the physician to the possibility of an underlying pyriform sinus fistula of branchial origin and CT fistulography should be performed after the resolution of the neck infection to delineate the tract anatomically. Crown Copyright © 2011. Published by Elsevier Ireland Ltd. All

Cleft palate with/without cleft lip in French children: radiographic evaluation of prevalence, location and coexistence of dental anomalies inside and outside cleft region.

PubMed

Mangione, Francesca; Nguyen, Laure; Foumou, Nathalie; Bocquet, Emmanuelle; Dursun, Elisabeth

2018-03-01

Prevalence of dental anomalies in cleft patients is higher than that in general population. The objectives of this study were to assess the prevalence of dental anomalies and their coexistence in French children with cleft and, then, to investigate the relation between the dental anomalies and the cleft type. Seventy-four non-syndromic cleft patients (6-16 years old) from Lille Regional University and Mondor-Chenevier Hospitals (France) were included. Clefts were classified as right/left unilateral cleft lip and palate (UCLP), bilateral cleft lip and palate (BCLP) and cleft palate (CP). Dental anomalies were investigated on panoramic radiographs and categorized as agenesis, supernumerary teeth, incisor rotations, impacted canines and shape anomalies. Prevalence and gender distribution of dental anomalies, mean number of affected teeth per patient, agenesis occurrence and location, and coexistence of dental anomalies were analysed by cleft type. 96.0% of patients presented at least one dental anomaly (agenesis 83.8%, incisor rotations 25.7%, shape anomalies 21.6%, impacted canines 18.9%, supernumerary teeth 8.1%). BCLP patients had a higher number of affected teeth, and left UCLP patients had a higher one compared to right UCLP patients. Distribution of inside (45.3%) and outside (54.7%) cleft region agenesis was similar. Adjacent (31.8%) and not adjacent (33.3%) combined dental anomalies were often encountered. Dental anomalies were localized inside as well as outside cleft region and were often associated with each other. BCLP patients were more affected. Early radiographic evaluation allows a comprehensive diagnosis of inside and outside cleft region anomalies, required for the multidisciplinary dental treatment.

Feeding interventions for growth and development in infants with cleft lip, cleft palate or cleft lip and palate.

PubMed

Bessell, Alyson; Hooper, Lee; Shaw, William C; Reilly, Sheena; Reid, Julie; Glenny, Anne-Marie

2011-02-16

Cleft lip and cleft palate are common birth defects, affecting about one baby of every 700 born. Feeding these babies is an immediate concern and there is evidence of delay in growth of children with a cleft as compared to those without clefting. In an effort to combat reduced weight for height, a variety of advice and devices are recommended to aid feeding of babies with clefts. This review aims to assess the effects of these feeding interventions in babies with cleft lip and/or palate on growth, development and parental satisfaction. The following electronic databases were searched: the Cochrane Oral Health Group Trials Register (to 27 October 2010), the Cochrane Central Register of Controlled Trials (CENTRAL) (The Cochrane Library 2010, Issue 4), MEDLINE via OVID (1950 to 27 October 2010), EMBASE via OVID (1980 to 27 October 2010), PsycINFO via OVID (1950 to 27 October 2010) and CINAHL via EBSCO (1980 to 27 October 2010). Attempts were made to identify both unpublished and ongoing studies. There was no restriction with regard to language of publication. Studies were included if they were randomised controlled trials (RCTs) of feeding interventions for babies born with cleft lip, cleft palate or cleft lip and palate up to the age of 6 months (from term). Studies were assessed for relevance independently and in duplicate. All studies meeting the inclusion criteria were data extracted and assessed for validity independently by each member of the review team. Authors were contacted for clarification or missing information whenever possible. Five RCTs with a total of 292 babies, were included in the review. Comparisons made within the RCTs were squeezable versus rigid feeding bottles (two studies), breastfeeding versus spoon-feeding (one study) and maxillary plate versus no plate (two studies). No statistically significant differences were shown for any of the primary outcomes when comparing bottle types, although squeezable bottles were less likely to require

Spinal Accessory Motor Neurons in the Mouse: A Special Type of Branchial Motor Neuron?

PubMed

Watson, Charles; Tvrdik, Petr

2018-04-16

The spinal accessory nerve arises from motor neurons in the upper cervical spinal cord. The axons of these motor neurons exit dorsal to the ligamentum denticulatum and form the spinal accessory nerve. The nerve ascends in the spinal subarachnoid space to enter the posterior cranial fossa through the foramen magnum. The spinal accessory nerve then turns caudally to exit through the jugular foramen alongside the vagus and glossopharyngeal nerves, and then travels to supply the sternomastoid and trapezius muscles in the neck. The unusual course of the spinal accessory nerve has long prompted speculation that it is not a typical spinal motor nerve and that it might represent a caudal remnant of the branchial motor system. Our cell lineage tracing data, combined with images from public databases, show that the spinal accessory motor neurons in the mouse transiently express Phox2b, a transcription factor that is required for development of brain stem branchial motor nuclei. While this is strong prima facie evidence that the spinal accessory motor neurons should be classified as branchial motor, the evolutionary history of these motor neurons in anamniote vertebrates suggests that they may be considered to be an atypical branchial group that possesses both branchial and somatic characteristics. Anat Rec, 2018. © 2018 Wiley Periodicals, Inc. © 2018 Wiley Periodicals, Inc.

The Primary Care Pediatrician and the Care of Children With Cleft Lip and/or Cleft Palate.

PubMed

Lewis, Charlotte W; Jacob, Lisa S; Lehmann, Christoph U

2017-05-01

Orofacial clefts, specifically cleft lip and/or cleft palate (CL/P), are among the most common congenital anomalies. CL/P vary in their location and severity and comprise 3 overarching groups: cleft lip (CL), cleft lip with cleft palate (CLP), and cleft palate alone (CP). CL/P may be associated with one of many syndromes that could further complicate a child's needs. Care of patients with CL/P spans prenatal diagnosis into adulthood. The appropriate timing and order of specific cleft-related care are important factors for optimizing outcomes; however, care should be individualized to meet the specific needs of each patient and family. Children with CL/P should receive their specialty cleft-related care from a multidisciplinary cleft or craniofacial team with sufficient patient and surgical volume to promote successful outcomes. The primary care pediatrician at the child's medical home has an essential role in making a timely diagnosis and referral; providing ongoing health care maintenance, anticipatory guidance, and acute care; and functioning as an advocate for the patient and a liaison between the family and the craniofacial/cleft team. This document provides background on CL/P and multidisciplinary team care, information about typical timing and order of cleft-related care, and recommendations for cleft/craniofacial teams and primary care pediatricians in the care of children with CL/P. Copyright © 2017 by the American Academy of Pediatrics.

Evidence-Based Medicine: Cleft Palate.

PubMed

Woo, Albert S

2017-01-01

After studying this article, the participant should be able to: 1. Describe the incidence of cleft palate and risk factors associated with development of an orofacial cleft. 2. Understand differences among several techniques to repair clefts of both the hard and soft palates. 3. Discuss risk factors for development of postoperative fistulas, velopharyngeal insufficiency, and facial growth problems. 4. Establish a treatment plan for individualized care of a cleft palate patient. Orofacial clefts are the most common congenital malformations of the head and neck region, and approximately three-quarters of these patients have some form of cleft palate deformity. Cleft palate repair is generally performed in children between 6 and 12 months of age. The goals of palate repair are to minimize the occurrence of fistulas, establish a normal velopharyngeal mechanism, and optimize facial growth. This Maintenance of Certification review discusses the incidence and epidemiology associated with cleft palate deformity and specifics associated with patient care, including analgesia, surgical repair techniques, and complications associated with repair of the cleft palate.

Prevalence of orofacial clefts and risks for nonsyndromic cleft lip with or without cleft palate in newborns at a university hospital from West Mexico.

PubMed

Corona-Rivera, Jorge Román; Bobadilla-Morales, Lucina; Corona-Rivera, Alfredo; Peña-Padilla, Christian; Olvera-Molina, Sandra; Orozco-Martín, Miriam A; García-Cruz, Diana; Ríos-Flores, Izabel M; Gómez-Rodríguez, Brian Gabriel; Rivas-Soto, Gemma; Pérez-Molina, J Jesús

2018-02-19

We determined the overall prevalence of typical orofacial clefts and the potential risks for nonsyndromic cleft lip with or without cleft palate in a university hospital from West México. For the prevalence, 227 liveborn infants with typical orofacial clefts were included from a total of 81,193 births occurred during the period 2009-2016 at the "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara (Guadalajara, Jalisco, Mexico). To evaluate potential risks, a case-control study was conducted among 420 newborns, including only those 105 patients with nonsyndromic cleft lip with or without cleft palate (cases), and 315 infants without birth defects (controls). Data were analyzed using multivariable logistic regression analysis expressed as adjusted odds ratio with 95% confidence intervals . The overall prevalence for typical orofacial clefts was 28 per 10,000 (95% confidence interval: 24.3-31.6), or 1 per 358 live births. The mean values for the prepregnancy weight, antepartum weight, and pre-pregnancy body mass index were statistically higher among the mothers of cases. Infants with nonsyndromic cleft lip with or without cleft palate had a significantly higher risk for previous history of any type of congenital anomaly (adjusted odds ratio: 2.7; 95% confidence interval: 1.4-5.1), history of a relative with cleft lip with or without cleft palate (adjusted odds ratio: 19.6; 95% confidence interval: 8.2-47.1), and first-trimester exposures to progestogens (adjusted odds ratio: 6.8; 95% CI 1.8-25.3), hyperthermia (adjusted odds ratio: 3.4; 95% confidence interval: 1.1-10.6), and common cold (adjusted odds ratio: 3.6; 95% confidence interval: 1.1-11.9). These risks could have contributed to explain the high prevalence of orofacial clefts in our region of Mexico, emphasizing that except for history of relatives with cleft lip with or without cleft palate, most are susceptible of modification. © 2018 Japanese Teratology Society.

Cleft Lip and Cleft Palate Surgery: Malpractice Litigation Outcomes.

PubMed

Justin, Grant A; Brietzke, Scott E

2017-01-01

  This study examined malpractice claims related to cleft lip and cleft palate surgery to identify common allegations and injuries and reviewed financial outcomes.   The WestlawNext legal database was analyzed for all malpractice lawsuits and settlements related to the surgical repair of cleft lip and palate.   Inclusion criteria included patients undergoing surgical repair of a primary cleft lip or palate or revision for complications of previous surgery. Data evaluated included patient demographics, type of operation performed, plaintiff allegation, nature of injury, and litigation outcomes.   A total of 36 cases were identified, with 12 unique cases from 1981 to 2006 meeting the inclusion criteria. Six cases (50%) were decided by a jury and six by settlement. Five cases involved complications related to the specific surgery, and the other seven were associated with any surgery and perioperative care of children and adults. Cleft palate repair (50%) was the most frequently litigated surgery. Postoperative negligent supervision was the most common allegation (42%) and resulted in a payout in each case (mean = $3,126,032). Death (42%) and brain injury (25%) were the most frequent injuries reported. Financial awards were made in nine cases (after adjusting for inflation, mean = $2,470,552, range = $0 to $7,704,585). The awards were significantly larger for brain injury than other outcomes ($4,675,395 versus $1,368,131 after adjusting for inflation, P = .0101).   Malpractice litigation regarding cleft lip and palate surgery is uncommon. However, significant financial awards involving perioperative brain injury have been reported.

Orthokeratinised odontogenic cyst mimicking periapical cyst

PubMed Central

Rajalakshmi, R; Sreeja, C; Vijayalakshmi, D; Leelarani, V

2013-01-01

Orthokeratinised odontogenic cyst (OOC) denotes the odontogenic cyst that microscopically has an orthokeratinised epithelial lining. OOC is characterised by a less-aggressive behaviour and a low rate of recurrence. This report describes a case of OOC involving posterior part of the mandible that mimicked periapical cyst in a 14-year-old boy. The initial clinical diagnosis was given as periapical cyst based on the clinical and radiographical features. Enucleation of the cyst was performed and the specimen was sent for histopathological examination. A definite diagnosis of OOC was made by histopathological examination of the biopsy specimen. This case emphases on including OOC in the differential diagnosis of radiolucencies occurring in the periapical region of non-vital tooth. PMID:24099763

Orthokeratinised odontogenic cyst mimicking periapical cyst.

PubMed

Rajalakshmi, R; Sreeja, C; Vijayalakshmi, D; Leelarani, V

2013-10-07

Orthokeratinised odontogenic cyst (OOC) denotes the odontogenic cyst that microscopically has an orthokeratinised epithelial lining. OOC is characterised by a less-aggressive behaviour and a low rate of recurrence. This report describes a case of OOC involving posterior part of the mandible that mimicked periapical cyst in a 14-year-old boy. The initial clinical diagnosis was given as periapical cyst based on the clinical and radiographical features. Enucleation of the cyst was performed and the specimen was sent for histopathological examination. A definite diagnosis of OOC was made by histopathological examination of the biopsy specimen. This case emphases on including OOC in the differential diagnosis of radiolucencies occurring in the periapical region of non-vital tooth.

Protection against suspended sand: the function of the branchial membrane in the blue mussel Mytilus edulis

NASA Astrophysics Data System (ADS)

de Vooys, C. G. N.

2006-09-01

Blue mussels ( Mytilus edulis) living in estuaries have to cope with varying concentrations of suspended sand. Sand flowing through the inhalant siphons comes into the infrabranchial chamber. The inhalant siphon can be partially closed by the branchial membrane. As a result the inward flow decreases, and suspended sand sinks and can be eliminated. Experiments with mussels from three ecologically different locations showed about the same response of the branchial membrane on contact with suspended sand. The presence and function of the branchial membrane appears to be an adaptation of mussels to their estuarine environment.

Short mandible - a possible risk factor for cleft palate with/without a cleft lip.

PubMed

Hermann, N V; Darvann, T A; Ersbøll, B K; Kreiborg, S

2014-05-01

To estimate the influence of a short mandible on the risk of developing a cleft palate with/without a cleft lip (CP). The retrospective sample consisted of 115 2-month-old Danish infants with CP, and 70 control infants with unilateral incomplete cleft lip (UICL). Cephalometric X-rays were obtained. Mandibular length (Lm ) was measured and corrected for body length (Lb ) to remove influence of varying body length in the sample. Logistic regression was applied to the corrected mandibular length (Lmc ) to calculate the risk of having a cleft palate. The mean mandibular length in the group with CP was about 4 mm shorter than in the control group. Odds ratio (OR) was calculated to be 0.58 (95% confidence interval 0.48-0.68), implying that an individual's risk of cleft palate with/without a cleft lip increases about 50% per mm decrease in mandibular length. A special facial type including a short mandible is a possible risk factor for cleft palate, and it was found that the risk of cleft palate increases 58% per mm decreases in mandibular length. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Reassessing the Dlx code: the genetic regulation of branchial arch skeletal pattern and development

PubMed Central

Depew, Michael J; Simpson, Carol A; Morasso, Maria; Rubenstein, John LR

2005-01-01

The branchial arches are meristic vertebrate structures, being metameric both between each other within the rostrocaudal series along the ventrocephalic surface of the embryonic head and within each individual arch: thus, just as each branchial arch must acquire a unique identity along the rostrocaudal axis, each structure within the proximodistal axis of an arch must also acquire a unique identity. It is believed that regional specification of metameric structures is controlled by the nested expression of related genes resulting in a regional code, a principal that is though to be demonstrated by the regulation of rostrocaudal axis development in animals exerted by the nested HOM-C/Hox homeobox genes. The nested expression pattern of the Dlx genes within the murine branchial arch ectomesenchyme has more recently led to the proposal of a Dlx code for the regional specification along the proximodistal axis of the branchial arches (i.e. it establishes intra-arch identity). This review re-examines this hypothesis, and presents new work on an allelic series of Dlx loss-of-function mouse mutants that includes various combinations of Dlx1, Dlx2, Dlx3, Dlx5 and Dlx6. Although we confirm fundamental aspects of the hypothesis, we further report a number of novel findings. First, contrary to initial reports, Dlx1, Dlx2 and Dlx1/2 heterozygotes exhibit alterations of branchial arch structures and Dlx2−/− and Dlx1/2−/− mutants have slight alterations of structures derived from the distal portions of their branchial arches. Second, we present evidence for a role for murine Dlx3 in the development of the branchial arches. Third, analysis of compound Dlx mutants reveals four grades of mandibular arch transformations and that the genetic interactions of cis first-order (e.g. Dlx5 and Dlx6), trans second-order (e.g. Dlx5 and Dlx2) and trans third-order paralogues (e.g. Dlx5 and Dlx1) result in significant and distinct morphological differences in mandibular arch development

Cleft Lip and Cleft Palate--What to Know and Who Can Help

ERIC Educational Resources Information Center

Apel, Laura

2008-01-01

Craniofacial defects such as cleft lip and cleft palate are among the most common of all birth defects in the United States, with one in every 600 newborns affected. Cleft lip and/or palate can occur as an isolated condition or may be one component of an inherited disease or syndrome. Dealing with the condition is an extremely difficult and…

Simple bone cyst of mandible mimicking periapical cyst.

PubMed

Hs, Charan Babu; Rai, Bhagawan Das; Nair, Manju A; Astekar, Madhusudan S

2012-05-29

Simple bone cysts (SBC) are pseudocysts occurring less commonly in the maxillofacial region. The uncertain and unclear etiopathogenesis led to numerous synonyms to refer this particular cyst. These cysts are devoid of an epithelial lining and are usually empty or contain blood or straw-colored fluid. In jaws initially it mimics a periapical cyst and later can lead to cortical bone expansion warranting for radical approach, which is seldom required. SBC is predominantly diagnosed in first two decades of life. Here we report a case of solitary bone cyst mimicking a periapical cyst of a mandibular molar in a 37-year-old patient.

Fine-needle aspiration biopsy of the salivary gland: problem cases.

PubMed

MacLeod, C B; Frable, W J

1993-01-01

Among 582 fine-needle aspiration (FNA) biopsies of major and minor salivary glands performed between 1974 and 1990, lack of cytological histologic correlation was noted in 21 cases. Of these, the cause in 10 FNAs was inadequate cytological sampling of the lesion. [One case of malignant hemangiopericytoma was tentatively diagnosed as a monomorphic adenoma on FNA, a polymorphic T-cell lymphoma was diagnosed as granulomatous inflammation on aspiration biopsy, a benign lymphoepithelial lesion was diagnosed as a reactive lymph node, a branchial cleft cyst was called benign mixed tumor (BMT), one case of chronic sialoadenitis was called BMT by FNA, two cases of benign lymphoepithelial lesion (BLEL) were diagnosed as cystic Warthin's tumor, two low-grade mucoepidermoid carcinomas were called BMT, and a BMT was cytologically diagnosed as a Warthin's tumor with squamous metaplasia versus low-grade mucoepidermoid carcinoma. One case of low-grade mucoepidermoid carcinoma was diagnosed only as a "cyst."] Review of these cases identifies constant features that permit differentiation between Warthin's tumor and BLEL, and among BMT, mucoepidermoid carcinoma, and chronic sialoadenitis. Despite a few problem cases, FNA of the salivary gland is accurate in the preoperative diagnosis and classification of salivary gland neoplasms.

Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus.

PubMed

Velazquez, Danitza; Pereira, Elaine; Havranek, Thomas

2016-03-01

VACTERL (vertebral anomalies, anal atresia, cardiac defect, tracheoesophageal fistula, renal anomaly, limb anomalies) is an association of anomalies with a wide spectrum of phenotypic expression. While the majority of cases are sporadic, there is evidence of an inherited component in a small number of patients as well as the potential influence of nongenetic risk factors (maternal diabetes mellitus). Presence of hydrocephalus has been reported in VACTERL patients (VACTERL-H) in the past, with some displaying branchial arch anomalies. We report the unique case of an infant of diabetic mother with VACTERL association and a branchial arch anomaly-in the absence of hydrocephalus.

Simple bone cyst of mandible mimicking periapical cyst

PubMed Central

HS, Charan Babu; Rai, Bhagawan Das; Nair, Manju A.; Astekar, Madhusudan S.

2012-01-01

Simple bone cysts (SBC) are pseudocysts occurring less commonly in the maxillofacial region. The uncertain and unclear etiopathogenesis led to numerous synonyms to refer this particular cyst. These cysts are devoid of an epithelial lining and are usually empty or contain blood or straw-colored fluid. In jaws initially it mimics a periapical cyst and later can lead to cortical bone expansion warranting for radical approach, which is seldom required. SBC is predominantly diagnosed in first two decades of life. Here we report a case of solitary bone cyst mimicking a periapical cyst of a mandibular molar in a 37-year-old patient. PMID:24765458

Comparative Assessment of the Cleft Profile by Patients with Cleft Lip and Palate, Cleft Surgeons, and Lay People.

PubMed

Meng, Tian; Ma, Lian; Wang, Zhi

2015-10-01

This cross-sectional study aimed to compare subjective assessments among patients with cleft lip and palate (CLP), cleft surgeons, and lay people regarding the soft tissue lateral profile of CLP patients. We also investigated the correlations between subjective assessments and photogrammetric measurements. A total of 150 CLP patients who wished to have treatment for their unattractive appearance were randomly selected. A standard lateral profile color photograph was taken. Panels of three cleft surgeons, ten CLP patients, and ten lay people were selected to be assessors. They rated nasal tip projection, nasolabial esthetics, upper and lower lip esthetics, and the profile for each photograph. Three angular measurements (nasal prominence angle, nasolabial angle, and lip angle) were measured for each photograph. Kendall's coefficient of concordance and logistic regression were used for statistical analysis. Kendall's coefficient of concordance of nasal tip projection, nasolabial esthetics, upper and lower lip esthetics, and the profile were 0.734, 0.683, 0.828, and 0.747, respectively (p < 0.001). Lip angle was associated with the profile scores for cleft surgeons and CLP patients (p < 0.001). The nasal prominence angle and lip angle were associated with the profile scores for lay people (p < 0.001). CLP patients, cleft surgeons, and lay people have similar attitudes to the appearance of CLP patients. Upper and lower lip esthetics is associated with the assessment of the cleft profile that is provided by CLP patients, cleft surgeons, and lay people. In addition, nasal tip projection is another determining factor for lay people. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Open and Endoscopic Management of Fourth Branchial Pouch Sinus - Our Experience.

PubMed

Arunachalam, Pavai; Vaidyanathan, Venkatraman; Sengottan, Palaninathan

2015-10-01

Introduction Acute suppurative neck infections associated with third or fourth branchial arch fistulas are frequently recurrent. Third and fourth branchial arch anomalies are much less common and usually present with recurrent left thyroid lobe abscesses. Objectives The authors present their experience in treating such cases that were observed exclusively in children. Methods The study involved performing a retrospective review of five cases in PSG Institute of Medical Sciences & Research. All cases were evaluated radiologically and with Direct Rigid hypopharyngoscopy. Definitive surgery was performed, including hemithyroidectomy. Results The patients consisted of five children, two boys and three girls. All of them presented with recurrent episodes of neck infection. Investigations performed included computed tomography (CT) fistulography, rigid hypopharyngoscopy and ultrasound, which were useful in preoperatively delineating pyriform sinus fistulous tract. All patients underwent neck exploration with excision of the fistulous tract and hemithyroidectomy. Upon follow-up, all patients are asymptomatic. Conclusions Recurrent neck abscesses in a child should alert the clinician to the possibility of a fourth branchial arch anomaly; therefore, children with this condition require a complete evaluation so the anomaly can be ruled out.

Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus

PubMed Central

Velazquez, Danitza; Pereira, Elaine; Havranek, Thomas

2015-01-01

VACTERL (vertebral anomalies, anal atresia, cardiac defect, tracheoesophageal fistula, renal anomaly, limb anomalies) is an association of anomalies with a wide spectrum of phenotypic expression. While the majority of cases are sporadic, there is evidence of an inherited component in a small number of patients as well as the potential influence of nongenetic risk factors (maternal diabetes mellitus). Presence of hydrocephalus has been reported in VACTERL patients (VACTERL-H) in the past, with some displaying branchial arch anomalies. We report the unique case of an infant of diabetic mother with VACTERL association and a branchial arch anomaly—in the absence of hydrocephalus. PMID:26929876

Preoperative Cleft Lip Measurements and Maxillary Growth in Patients With Unilateral Cleft Lip and Palate.

PubMed

Antonarakis, Gregory S; Tompson, Bryan D; Fisher, David M

2016-11-01

Maxillary growth in patients with cleft lip and palate is highly variable. The authors' aim was to investigate associations between preoperative cleft lip measurements and maxillary growth determined cephalometrically in patients with complete unilateral cleft lip and palate (cUCLP). Retrospective cross-sectional study. Children with cUCLP. Preoperative cleft lip measurements were made at the time of primary cheiloplasty and available for each patient. Maxillary growth was evaluated on lateral cephalometric radiographs taken prior to any orthodontic treatment and alveolar bone grafting (8.5 ± 0.7 years). The presence of associations between preoperative cleft lip measurements and cephalometric measures of maxillary growth was determined using regression analyses. In the 58 patients included in the study, the cleft lateral lip element was deficient in height in 90% and in transverse width in 81% of patients. There was an inverse correlation between cleft lateral lip height and transverse width with a β coefficient of -0.382 (P = .003). Patients with a more deficient cleft lateral lip height displayed a shorter maxillary length (β coefficient = 0.336; P = .010), a less protruded maxilla (β coefficient = .334; P = .008), and a shorter anterior maxillary height (β coefficient = 0.306; P = .020) than those with a less deficient cleft lateral lip height. Patients with cUCLP present with varying degrees of lateral lip hypoplasia. Preoperative measures of lateral lip deficiency are related to later observed deficiencies of maxillary length, protrusion, and height.

Comparison of the structure and composition of the branchial filters in suspension feeding elasmobranchs.

PubMed

Misty Paig-Tran, E W; Summers, A P

2014-04-01

The four, evolutionarily independent, lineages of suspension feeding elasmobranchs have two types of branchial filters. The first is a robust, flattened filter pad akin to a colander (e.g., whale sharks, mantas and devil rays) while the second more closely resembles the comb-like gill raker structure found in bony fishes (e.g., basking and megamouth sharks). The structure and the presence of mucus on the filter elements will determine the mechanical function of the filter and subsequent particle transport. Using histology and scanning electron microscopy, we investigated the anatomy of the branchial filters in 12 of the 14 species of Chondrichthyian filter-feeding fishes. We hypothesized that mucus producing cells would be abundant along the filter epithelium and perform as a sticky mechanism to retain and transport particles; however, we found that only three species had mucus producing goblet cells. Two of these (Mobula kuhlii and Mobula tarapacana) also had branchial cilia, indicating sticky retention and transport. The remaining filter-feeding elasmobranchs did not have a sticky surface along the filter for particles to collect and instead must employ alternative mechanisms of filtration (e.g., direct sieving, inertial impaction or cross-flow). With the exception of basking sharks, the branchial filter is composed of a hyaline cartilage skeleton surrounded by a layer of highly organized connective tissue that may function as a support. Megamouth sharks and most of the mobulid rays have denticles along the surface of the filter, presumably to protect against damage from large particle impactions. Basking sharks have branchial filters that lack a cartilaginous core; instead they are composed entirely of smooth keratin. Copyright © 2014 Wiley Periodicals, Inc.

Laterality of Oral Clefts and Academic Achievement.

PubMed

Gallagher, Emily R; Collett, Brent R; Barron, Sheila; Romitti, Paul; Ansley, Timothy; Wehby, George L

2017-02-01

Children with isolated oral clefts have lower academic performance when compared with unaffected peers, yet few studies have examined specific attributes of clefts that may modify this risk. Oral clefts have nonrandom laterality, with left-sided clefts being more common than right-sided clefts, a pattern that may be genetically or environmentally influenced. The objective of this study was to evaluate the association between cleft laterality and academic achievement in a population-based sample of children with and without isolated oral clefts. The study included 292 children with isolated unilateral cleft lip with or without cleft palate identified by using the Iowa Registry for Congenital and Inherited Disorders matched with 908 unaffected classmates. This group provided 1953 child-grade observations for cases and 6829 for classmates. Academic achievement was evaluated by using high-quality standardized test data on multiple academic domains as well as use of special education. We found that children with right-sided clefts had similar achievement scores and usage of special education services compared with their unaffected classmates. Children with left-sided clefts had lower reading scores than children with right-sided clefts by nearly 7 percentiles (P < .05). They also had lower scores on all evaluated domains by 4 to 6 percentiles and greater use of special education services by 6 percentage points than their classmates. Children with left-sided clefts had poorer academic performance than their classmates or children with right-sided clefts, who showed similar academic achievement compared with their unaffected classmates. Copyright © 2017 by the American Academy of Pediatrics.

Isolated cleft palate requires different surgical protocols depending on cleft type.

PubMed

Elander, Anna; Persson, Christina; Lilja, Jan; Mark, Hans

2017-08-01

A staged protocol for isolated cleft palate (CPO), comprising the early repair of the soft palate at 6 months and delayed repair of the eventual cleft in the hard palate until 4 years, designed to improve maxillary growth, was introduced. CPO is frequently associated with additional congenital conditions. The study evaluates this surgical protocol for clefts in the soft palate (CPS) and for clefts in the hard and soft palate (CPH), with or without additional malformation, regarding primary and secondary surgical interventions needed for cleft closure and for correction of velopharyngeal insufficiency until 10 years of age. Of 94 consecutive children with CPO, divided into four groups with (+) or without (-) additional malformations (CPS + or CPS - and CPH + or CPH-), hard palate repair was required in 53%, performed with small local flaps in 21% and with bilateral mucoperiosteal flaps in 32%. The total incidence of soft palate re-repair was 2% and the fistula repair of the hard palate was 5%. The total incidence of secondary velopharyngeal surgery was 17% until 10 years, varying from 0% for CPS - and 15% for CPH-, to 28% for CPS + and 30% for CPH+. The described staged protocol for repair of CPO is found to be safe in terms of perioperative surgical results, with comparatively low need for secondary interventions. Furthermore, the study indicates that the presence of a cleft in the hard palate and/or additional conditions have a negative impact on the development of the velopharyngeal function.

Distal Regeneration Involves the Age Dependent Activity of Branchial Sac Stem Cells in the Ascidian Ciona intestinalis.

PubMed

Jeffery, William R

2015-02-01

Tunicates have high capacities for regeneration but the underlying mechanisms and their relationship to life cycle progression are not well understood. Here we investigate the regeneration of distal structures in the ascidian tunicate Ciona intestinalis . Analysis of regenerative potential along the proximal-distal body axis indicated that distal organs, such as the siphons, their pigmented sensory organs, and the neural complex, could only be replaced from body fragments containing the branchial sac. Distal regeneration involves the formation of a blastema composed of cells that undergo cell proliferation prior to differentiation and cells that differentiate without cell proliferation. Both cell types originate in the branchial sac and appear in the blastema at different times after distal injury. Whereas the branchial sac stem cells are present in young animals, they are depleted in old animals that have lost their regeneration capacity. Thus Ciona adults contain a population of age-related stem cells located in the branchial sac that are a source of precursors for distal body regeneration.

Macrophage polarization differs between apical granulomas, radicular cysts, and dentigerous cysts.

PubMed

Weber, Manuel; Schlittenbauer, Tilo; Moebius, Patrick; Büttner-Herold, Maike; Ries, Jutta; Preidl, Raimund; Geppert, Carol-Immanuel; Neukam, Friedrich W; Wehrhan, Falk

2018-01-01

Apical periodontitis can appear clinically as apical granulomas or radicular cysts. There is evidence that immunologic factors are involved in the pathogenesis of both pathologies. In contrast to radicular cysts, the dentigerous cysts have a developmental origin. Macrophage polarization (M1 vs M2) is a main regulator of tissue homeostasis and differentiation. There are no studies comparing macrophage polarization in apical granulomas, radicular cysts, and dentigerous cysts. Forty-one apical granulomas, 23 radicular cysts, and 23 dentigerous cysts were analyzed in this study. A tissue microarray (TMA) of the 87 consecutive specimens was created, and CD68-, CD11c-, CD163-, and MRC1-positive macrophages were detected by immunohistochemical methods. TMAs were digitized, and the expression of macrophage markers was quantitatively assessed. Radicular cysts are characterized by M1 polarization of macrophages while apical granulomas show a significantly higher degree of M2 polarization. Dentigerous cysts have a significantly lower M1 polarization than both analyzed periapical lesions (apical granulomas and radicular cysts) and accordingly, a significantly higher M2 polarization than radicular cysts. Macrophage cell density in dentigerous cysts is significantly lower than in the periapical lesions. The development of apical periodontitis towards apical granulomas or radicular cysts might be directed by macrophage polarization. Radicular cyst formation is associated with an increased M1 polarization of infiltrating macrophages. In contrast to radicular cysts, dentigerous cysts are characterized by a low macrophage infiltration and a high degree of M2 polarization, possibly reflecting their developmental rather than inflammatory origin. As M1 polarization of macrophages is triggered by bacterial antigens, these results underline the need for sufficient bacterial clearance during endodontic treatment to prevent a possible M1 macrophage-derived stimulus for radicular cyst

Association of single nucleotide polymorphisms in WNT genes with the risk of nonsyndromic cleft lip with or without cleft palate.

PubMed

Rafighdoost, Houshang; Hashemi, Mohammad; Asadi, Hossein; Bahari, Gholamreza

2018-01-22

Nonsyndromic cleft lip with or without cleft palate is a common congenital deformity worldwide with multifaceted etiology. Interaction of genes and environmental factors has been indicated to be related with susceptibility to nonsyndromic cleft lip with or without cleft palate. Some WNT genes which are involved in craniofacial embryogenesis may play a key role in the pathogenesis of nonsyndromic cleft lip with or without cleft palate. In the present study, we aimed to inspect the relationship between WNT3 (rs3809857 and rs9890413), WNT3A (rs752107 and rs3121310), and WNT10a rs201002930 (c.392 C>T) polymorphisms and nonsyndromic cleft lip with or without cleft palate in an Iranian population. The present case-control study was carried out on 120 unrelated nonsyndromic cleft lip with or without cleft palate patients and 112 healthy subjects. The variants were genotyped by polymerase chain reaction-restriction fragment length polymorphism method. The findings suggest that the rs3809857 polymorphism significantly decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.16, 95% confidence interval = 0.03-0.75, P = 0.020, TT vs GG), recessive (odds ratio = 0.16, 95% confidence interval = 0.03-0.72, P = 0.009, TT vs GG + GT) inheritance models. The rs9890413 variant marginally decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.41, 95% confidence interval = 0.17-0.99, P = 0.047, AG vs AA) model. Regarding C392T variant, the findings revealed that this variant significantly decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.24, 95% confidence interval = 0.10-0.58, P = 0.002, CT vs CC) and allele (odds ratio = 0.26, 95% confidence interval = 0.11-0.62, P = 0.002, T vs C) models. No significant association was observed between the rs752107 and rs3121310 variants

Cleft characteristics and treatment outcomes in hemifacial microsomia compared to non-syndromic cleft lip/palate.

PubMed

Dentino, K M; Valstar, A; Padwa, B L

2016-06-01

The goal of this study was to describe the clinical characteristics and treatment outcomes of patients with hemifacial microsomia (HFM) and cleft lip/palate (CL/P), and to compare them to a historic cohort of patients with non-syndromic CL/P treated at the same centre. A retrospective review of patients with HFM and CL/P was performed; the main outcome measures assessed were cleft type/side, surgical outcome, midfacial retrusion, and speech. Twenty-six patients (13 male, 13 female; mean age 22.7±14.9, range 1-52 years) with cleft lip with/without cleft palate (CL±P) were identified: three with cleft lip (12%), two with cleft lip and alveolus and an intact secondary palate (8%), and 21 with cleft lip and palate (CLP) (81%; 15 unilateral and six bilateral). Four patients (19%) had a palatal fistula after palatoplasty. Twelve of 22 patients aged >5 years (55%) had midfacial retrusion and two (9%) required a pharyngeal flap for velopharyngeal insufficiency (VPI). Fisher's exact test demonstrated a higher frequency of complete labial clefting (P=0.004), CLP (P=0.009), midfacial retrusion (P=0.0009), and postoperative palatal fistula (P=0.03) in HFM compared to non-syndromic CL±P. There was no difference in VPI prevalence. This study revealed that patients with HFM and CL±P have more severe forms of orofacial clefting than patients with non-syndromic CL±P. Patients with HFM and CL±P have more severe midfacial retrusion and a higher palatal fistula rate compared to patients with non-syndromic CL±P. Copyright © 2015 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

PubMed

Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

2014-01-01

Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

Nasoalveolar molding improves appearance of children with bilateral cleft lip-cleft palate.

PubMed

Lee, Catherine T H; Garfinkle, Judah S; Warren, Stephen M; Brecht, Lawrence E; Cutting, Court B; Grayson, Barry H

2008-10-01

Bilateral cleft lip-cleft palate is associated with nasal deformities typified by a short columella. The authors compared nasal outcomes of cleft patients treated with banked fork flaps to those of patients who underwent nasoalveolar molding and primary retrograde nasal reconstruction. A retrospective review of 26 consecutive patients with bilateral cleft lip-cleft palate was performed. Group 1 patients (n = 13) had a cleft lip repair and nasal correction with banked fork flaps. Group 2 patients (n = 13) had nonsurgical columellar elongation with nasoalveolar molding followed by cleft lip closure and primary retrograde nasal correction. Group 3 patients (n = 13) were age-matched controls. Columellar length was measured at presentation and at 3 years of age. The number of nasal operations was recorded to 9 years. The Kruskal-Wallis and Tukey-Kramer tests were used for statistical analysis. Initial columellar length was 0.49 +/- 0.37 mm in group 1 and 0.42 +/- 0.62 mm in group 2. Post-nasoalveolar molding columellar length was 4.5 +/- 0.76 mm in group 2. By 3 years of age, columellar length was 3.03 +/- 1.47 mm in group 1, 5.98 +/- 1.09 mm in group 2, and 6.35 +/- 0.99 mm in group 3. Group 2 columellar length was significantly greater (p < 0.001) than that of group 1 and not statistically different from that of group 3 (p > 0.05). All group 1 patients (13 of 13) needed secondary nasal surgery. No nasoalveolar molding patients (zero of 13, group 2) required secondary nasal surgery. Nonsurgical columellar elongation with nasoalveolar molding followed by primary retrograde nasal reconstruction restored columellar length to normal by 3 years and significantly reduced the need for secondary nasal surgery.

Surgical repair of large cyclodialysis clefts.

PubMed

Gross, Jacob B; Davis, Garvin H; Bell, Nicholas P; Feldman, Robert M; Blieden, Lauren S

2017-05-11

To describe a new surgical technique to effectively close large (>180 degrees) cyclodialysis clefts. Our method involves the use of procedures commonly associated with repair of retinal detachment and complex cataract extraction: phacoemulsification with placement of a capsular tension ring followed by pars plana vitrectomy and gas tamponade with light cryotherapy. We also used anterior segment optical coherence tomography (OCT) as a noninvasive mechanism to determine the extent of the clefts and compared those results with ultrasound biomicroscopy (UBM) and gonioscopy. This technique was used to repair large cyclodialysis clefts in 4 eyes. All 4 eyes had resolution of hypotony and improvement of visual acuity. One patient had an intraocular pressure spike requiring further surgical intervention. Anterior segment OCT imaging in all 4 patients showed a more extensive cleft than UBM or gonioscopy. This technique is effective in repairing large cyclodialysis clefts. Anterior segment OCT more accurately predicted the extent of each cleft, while UBM and gonioscopy both underestimated the size of the cleft.

Lower lip deformity in patients with cleft and non-cleft Class III malocclusion before and after orthognathic surgery.

PubMed

Park, Joo Seok; Koh, Kyung S; Choi, Jong Woo

2015-10-01

Orthognathic surgery does not yield the same cosmetic benefits in patients with Class III jaw deformities associated with clefts as for patients without clefts. Preoperative upper lip tightness caused by cleft lip repair may not fully explain this difference, suggesting that a lower lip deformity is present. The study compared the outcomes of orthognathic surgery in patients with cleft and non-cleft Class III malocclusion, focusing on lip relationship. The surgical records of 50 patients with Class III malocclusion, including 25 with and 25 without clefts, who had undergone orthognathic surgery, were retrospectively analyzed. Lateral cephalometric tracings, preoperatively and at 6 months postoperatively, were superimposed to analyze the soft tissue changes at seven reference points. At 6 months after surgery, there were no significant differences in skeletal location, whereas the soft tissues of the lower lip differed significantly between patients with and without cleft (p=0.002), indicating the persistence of a lower lip deformity in cleft patients. Moreover, the soft tissues of the lower lip receded in non-cleft patients and protruded in cleft patients after orthognathic surgery. Lower lip deformity and upper lip tightness may result in an unsatisfactory relationship between the upper and lower lips of patients with cleft-related jaw deformity after orthognathic surgery. Other factors were less important than the pathology of the lower lip. Copyright © 2015 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Ovarian Cysts

MedlinePlus

... mature in the ovaries, are released in monthly cycles during the childbearing years. Many women have ovarian ... cysts develop as a result of your menstrual cycle (functional cysts). Other types of cysts are much ...

A Relationship between nasolabial appearance and self-esteem in adolescent with repaired cleft lip and cleft palate at Khon Kaen University Cleft Center.

PubMed

Patjanasoontornm, Niramol; Wongniyom, Kusalapom; Pradubwong, Suteera; Piyavhakul, Navanant; Chowchuen, Bowornsilp

2014-10-01

To examine levels of self-esteem of adolescents with repaired cleft lip and cleft palate at Khon Kaen University Cleft Center and its correlation with nasolabial appearance. Across-sectional survey of 93 adolescents with repaired cleft lip and palate. A total nasolabial appearance score was 2.8 +/- 0.36 (fair to good). The mean of the total self-esteem score for all respondents was 20.11 +/- 3.27 (maximum 30). There was no-significant correlation between nasolabial appearance and self esteem (Pearson product-moment correlation coefficiency (r) = 0.18, p = 0.08. The self-esteem scores of good, fair and poor appearance were 20.5 +/- 0.98, 19.8 +/- 0.32, 19 +/- 2.09 respectively. The nasolabial appearance of repaired cleft lip and palate not be the only factor but other psychosocialfactors also may play a role in their self-esteem. The analysis of this study found no relationship between self-esteem and appearance.

Open and Endoscopic Management of Fourth Branchial Pouch Sinus – Our Experience

PubMed Central

Arunachalam, Pavai; Vaidyanathan, Venkatraman; Sengottan, Palaninathan

2015-01-01

Introduction Acute suppurative neck infections associated with third or fourth branchial arch fistulas are frequently recurrent. Third and fourth branchial arch anomalies are much less common and usually present with recurrent left thyroid lobe abscesses. Objectives The authors present their experience in treating such cases that were observed exclusively in children. Methods The study involved performing a retrospective review of five cases in PSG Institute of Medical Sciences & Research. All cases were evaluated radiologically and with Direct Rigid hypopharyngoscopy. Definitive surgery was performed, including hemithyroidectomy. Results The patients consisted of five children, two boys and three girls. All of them presented with recurrent episodes of neck infection. Investigations performed included computed tomography (CT) fistulography, rigid hypopharyngoscopy and ultrasound, which were useful in preoperatively delineating pyriform sinus fistulous tract. All patients underwent neck exploration with excision of the fistulous tract and hemithyroidectomy. Upon follow-up, all patients are asymptomatic. Conclusions Recurrent neck abscesses in a child should alert the clinician to the possibility of a fourth branchial arch anomaly; therefore, children with this condition require a complete evaluation so the anomaly can be ruled out. PMID:26491476

Differential distribution of the Ca (2+) regulator Pcp4 in the branchial arches is regulated by Hoxa2.

PubMed

Anderson, Megan; Amin, Shilu; Luise, Fabiana; Zeef, Leo; Bobola, Nicoletta

2013-01-01

Branchial arches are externally visible tissue bands in the head region of all vertebrate embryos. Although initially formed from similar components, each arch will give rise to different head and neck structures. In a screen designed to characterize the molecular control of branchial arch identity in mouse, we identified Pcp4 as a second branchial arch-specific molecular signature. We further show that the transcription factor Hoxa2 binds to Pcp4 chromatin and regulates Pcp4 expression in the second arch. Hoxa2 is also sufficient to induce Pcp4 expression in anterior first arch cells, which are Pcp4-negative.

Current national incidence, trends, and health care resource utilization of cleft lip-cleft palate.

PubMed

Basseri, Benjamin; Kianmahd, Benjamin D; Roostaeian, Jason; Kohan, Emil; Wasson, Kristy L; Basseri, Robert J; Bradley, James P

2011-03-01

Available reports on the epidemiology of cleft lip, cleft palate, and cleft lip-cleft palate have been numerous yet inconsistent, and have originated only from institutional or regional studies. The need for current national data and the recognition of recent trends exists. The authors examined the Kids' Inpatient Database to obtain national information on pediatric orofacial cleft discharges from 1997 to 2007. The authors examined patient and hospital characteristics to discern differences in use of care, hospital charges, type of hospital, untoward events, and other variables among various groups. A detailed investigation searching for significant trends during the 6-year study period was also conducted. Trends appreciated from 1997 to 2007 included (1) an increase in cleft operations performed at teaching hospitals compared with nonteaching hospitals (teaching increased 13.4 percent and nonteaching decreased 15.8 percent); (2) an increase in the mean overall charges (74.5 percent increase; p < 0.001) and a rate of rise higher than that of aggregate charges (60 percent; p < 0.001); and (3) a lower rate of perioperative complications in teaching hospitals from 2000 to 2007, ranging from 14 to 27 percent less than in nonteaching hospitals. The authors' data show that there is a current trend of cleft patients receiving treatment at teaching hospitals, with higher costs and decreasing complications. An understanding of such trends and disparities in resource use among various patient, hospital, and geographic settings is important for physicians and policy makers.

Velopharyngeal function of patients with cleft palate after primary palatoplasty: relevance of sex, age, and cleft type.

PubMed

Yang, Yunqiang; Li, Yang; Wu, Yeke; Gu, Yifei; Yin, Heng; Long, Hu; Shi, Bing; Zheng, Qian

2013-05-01

The aim of this study was to investigate the relevance of sex, age, and cleft type to velopharyngeal function after primary Sommerlad palatoplasty so as to improve velopharyngeal function after the procedure. Records of 503 patients with nonsyndromic cleft palate after primary Sommerlad palatoplasty were included in the retrospective study. Relevance between their velopharyngeal function and sex, age, and cleft type was analyzed. Statistical analysis was performed using SPSS 13.0 (SPSS Inc., Chicago, IL). There were no significant differences of velopharyngeal competence (VPC) rates between different sexes (P = 0.635). Specifically, VPC rates were significantly higher in younger-than-2-years groups than in older age groups (P < 0.05) and significantly lower in 6-years-or-older group (P < 0.05). No differences were found among 2- to 6-year-old groups (P > 0.05). The VPC rates were significantly lower in the bilateral complete cleft palate and the unilateral complete cleft palate than in the incomplete cleft palate before 2 years old (P < 0.05), whereas there were no significant differences totally (P = 0.875). Results showed that the disparity of the VPC rate among different cleft types would decrease with age. Moreover, results of multivariate logistic regression also indicated that operation age and cleft type are factors influencing velopharyngeal function. Primary palatoplasty should be completed before 2 years old, and the postoperative velopharygeal function will greatly decreases after 6 years old. The influence of cleft type on velopharyngeal function is limited to young patients. For those who have missed the best surgical timing, appropriate delay of operation age is reasonable, especially for patients with complete cleft palate. For patients 4 to 6 years old, the first choice is still simple palatoplasty no matter which cleft type they are classified into.

Beware! A simple renal cyst could be a hydatid cyst.

PubMed

Sehgal, Nidhi; Priyadarshi, Vinod

2017-01-01

Kidney is one of the most common sites for the cyst formation in the body, and the management of simple cysts is required entirely for its symptoms and complications. Surgical decortication is an established treatment for a large and symptomatic simple renal cyst. On the other hand, hydatid cysts of the kidney are usually multiloculated complex or calcified cysts and are quite rare. Their surgical treatment also differs and requires complete excision with pericystectomy or partial/complete nephrectomy depending upon residual functional parenchyma, using extreme caution to avoid spillage, recurrence or development of severe anaphylactic shock. A simple cyst harboring a hydatid cyst is highly uncommon and quite dangerous; as if not diagnosed preoperatively, it can create huge trouble for both the patient and the operating surgeon which happened in the present case.

Follicular hybrid cyst: a combination of bullous pilomatricoma and epidermoid cyst.

PubMed

Sanusi, Tutyana; Qu, Xiaoying; Li, Yanqiu; Zhang, Jing; Wang, Ming; Zhao, Yun; Yang, Zhen; An, Xiangjie; Qian, Yue; Wang, Chunsen; Chen, Hongxiang; Chen, Siyuan; Huang, Changzheng

2013-01-01

The follicular hybrid is composed of more than two components of pilosebaceous unit. There are several studies of hybrid cyst, combination of trichilemmal and epidermoid cyst was the most frequently reported. In this paper, we reported one case of hybrid cyst composed of bullous pilomatricoma and epidermoid cyst. A 14-year-old girl was complaint of a solitary flesh-colored to erythematous nodule with flaccid appearance sized 3.2 × 1.8 cm in diameter on her right upper back for one year. The histologic findings showed there were edema and proliferation of capillaries in the superficial dermis, a cyst in the middle to deep dermis. There were laminated keratins in the cystic space. The cyst wall was composed of two different components, one was composed of epithelial cells containing of granular layer, and another consisted of basophilic cells, transient cells and shadow cells. The cyst not related with Gardner's syndrome. Hybrid cyst such as trichilemmal cyst, epidermoid and pilomatricoma cysts maybe have same clinical features or mimicking each others, but we can distinguish them from histopathology evaluation.

Follicular hybrid cyst: a combination of bullous pilomatricoma and epidermoid cyst

PubMed Central

Sanusi, Tutyana; Qu, Xiaoying; Li, Yanqiu; Zhang, Jing; Wang, Ming; Zhao, Yun; Yang, Zhen; An, Xiangjie; Qian, Yue; Wang, Chunsen; Chen, Hongxiang; Chen, Siyuan; Huang, Changzheng

2013-01-01

The follicular hybrid is composed of more than two components of pilosebaceous unit. There are several studies of hybrid cyst, combination of trichilemmal and epidermoid cyst was the most frequently reported. In this paper, we reported one case of hybrid cyst composed of bullous pilomatricoma and epidermoid cyst. A 14-year-old girl was complaint of a solitary flesh-colored to erythematous nodule with flaccid appearance sized 3.2×1.8 cm in diameter on her right upper back for one year. The histologic findings showed there were edema and proliferation of capillaries in the superficial dermis, a cyst in the middle to deep dermis. There were laminated keratins in the cystic space. The cyst wall was composed of two different components, one was composed of epithelial cells containing of granular layer, and another consisted of basophilic cells, transient cells and shadow cells. The cyst not related with Gardner’s syndrome. Hybrid cyst such as trichilemmal cyst, epidermoid and pilomatricoma cysts maybe have same clinical features or mimicking each others, but we can distinguish them from histopathology evaluation. PMID:24294394

Current surgical practices in cleft care: cleft palate repair techniques and postoperative care.

PubMed

Katzel, Evan B; Basile, Patrick; Koltz, Peter F; Marcus, Jeffrey R; Girotto, John A

2009-09-01

The purpose of this study was to objectively report practices commonly used in cleft palate repair in the United States. This study investigates current surgical techniques, postoperative care, and complication rates for cleft palate repair surgery. All 803 surgeon members of the American Cleft Palate-Craniofacial Association were sent online and/or paper surveys inquiring about their management of cleft palate patients. Three-hundred six surveys were received, a 38 percent response rate. This represented responses of surgeons from 100 percent of American Cleft Palate-Craniofacial Association registered cleft teams. Ninety-six percent of respondents perform a one-stage repair. Eighty-five percent of surgeons perform palate surgery when the patient is between 6 and 12 months of age. The most common one-stage repair techniques are the Bardach style (two flaps) with intravelar veloplasty and the Furlow palatoplasty. After surgery, 39 percent of surgeons discharge patients within 24 hours. Another 43 percent discharge patients within 48 hours. During postoperative management, 92 percent of respondents implement feeding restrictions. Eighty-five percent of physicians use arm restraints. Surgeons' self-reported complications rates are minimal: 54 percent report a fistula in less than 5 percent of cases. The reported need for secondary speech surgery varies widely. The majority of respondents repair clefts in one stage. The most frequently used repair techniques are the Furlow palatoplasty and the Bardach style with intravelar veloplasty. After surgery, the majority of surgeons discharge patients in 1 or 2 days, and nearly all surgeons implement feeding restrictions and the use of arm restraints. The varying feeding protocols are reviewed in this article.

Cranio-facial clefts in pre-hispanic America.

PubMed

Marius-Nunez, A L; Wasiak, D T

2015-10-01

Among the representations of congenital malformations in Moche ceramic art, cranio-facial clefts have been portrayed in pottery found in Moche burials. These pottery vessels were used as domestic items during lifetime and funerary offerings upon death. The aim of this study was to examine archeological evidence for representations of cranio-facial cleft malformations in Moche vessels. Pottery depicting malformations of the midface in Moche collections in Lima-Peru were studied. The malformations portrayed on pottery were analyzed using the Tessier classification. Photographs were authorized by the Larco Museo.Three vessels were observed to have median cranio-facial dysraphia in association with midline cleft of the lower lip with cleft of the mandible. ML001489 portrays a median cranio-facial dysraphia with an orbital cleft and a midline cleft of the lower lip extending to the mandible. ML001514 represents a median facial dysraphia in association with an orbital facial cleft and a vertical orbital dystopia. ML001491 illustrates a median facial cleft with a soft tissue cleft. Three cases of midline, orbital and lateral facial clefts have been portrayed in Moche full-figure portrait vessels. They represent the earliest registries of congenital cranio-facial malformations in ancient Peru. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Early correction of septum JJ deformity in unilateral cleft lip-cleft palate.

PubMed

Morselli, Paolo G; Pinto, Valentina; Negosanti, Luca; Firinu, Antonella; Fabbri, Erich

2012-09-01

The treatment of patients affected by unilateral cleft lip-cleft palate is based on a multistage procedure of surgical and nonsurgical treatments in accordance with the different types of deformity. Over time, the surgical approach for the correction of a nasal deformity in a cleft lip-cleft palate has changed notably and the protocol of treatment has evolved continuously. Not touching the cleft lip nose in the primary repair was dogmatic in the past, even though this meant severe functional, aesthetic, and psychological problems for the child. McComb reported a new technique for placement of the alar cartilage during lip repair. The positive results of this new approach proved that the early correction of the alar cartilage anomaly is essential for harmonious facial growth with stable results and without discomfort for the child. The authors applied the same principles used for the treatment of the alar cartilage for correction of the septum deformity, introducing a primary rhinoseptoplasty during the cheiloplasty. The authors compared two groups: group A, which underwent septoplasty during cleft lip repair; and group B, which did not. After the anthropometric evaluation of the two groups, the authors observed better symmetry regarding nasal shape, correct growth of the nose, and a strong reduction of the nasal deformity in the patients who underwent primary JJ septum deformity correction. The authors can assume that, similar to the alar cartilage, the septum can be repositioned during the primary surgery, without causing growth anomaly, improving the morphologic/functional results.

Distal regeneration involves the age dependent activity of branchial sac stem cells in the ascidian Ciona intestinalis

PubMed Central

2014-01-01

Abstract Tunicates have high capacities for regeneration but the underlying mechanisms and their relationship to life cycle progression are not well understood. Here we investigate the regeneration of distal structures in the ascidian tunicate Ciona intestinalis. Analysis of regenerative potential along the proximal−distal body axis indicated that distal organs, such as the siphons, their pigmented sensory organs, and the neural complex, could only be replaced from body fragments containing the branchial sac. Distal regeneration involves the formation of a blastema composed of cells that undergo cell proliferation prior to differentiation and cells that differentiate without cell proliferation. Both cell types originate in the branchial sac and appear in the blastema at different times after distal injury. Whereas the branchial sac stem cells are present in young animals, they are depleted in old animals that have lost their regeneration capacity. Thus Ciona adults contain a population of age‐related stem cells located in the branchial sac that are a source of precursors for distal body regeneration. PMID:25893097

Cleft Lip and Palate

MedlinePlus

... be a combination of two things: Genes . Both mothers and fathers can pass on a gene or genes that cause cleft palate or cleft lip. Environmental factors (outside influences). Pregnant women who take certain medicines — such ...

A Comparative Cost Analysis of Cleft Lip Adhesion and Nasoalveolar Molding before Formal Cleft Lip Repair.

PubMed

Shay, Paul L; Goldstein, Jesse A; Paliga, J Thomas; Wink, Jason; Jackson, Oksana A; Low, David; Bartlett, Scott P; Taylor, Jesse A

2015-12-01

Patients with complete cleft lip and palate may benefit from cleft lip adhesion or nasoalveolar molding before formal cleft lip repair. The authors compared the relative costs to insurers of these two treatment modalities and the burden of care to families. A retrospective analysis was performed of cleft lip and palate patients treated with nasoalveolar molding or cleft lip adhesion at The Children's Hospital of Philadelphia between January of 2007 and June of 2012. Demographic, appointment, and surgical data were reviewed; surgical, inpatient hospital, and orthodontic charges and costs were obtained. Multivariate linear regression and two-sample, two-tailed independent t tests were performed to compare cost and appointment data between groups. Forty-two cleft adhesion and 35 nasoalveolar molding patients met inclusion criteria. Mean costs for nasoalveolar molding were $3550.24 ± $667.27. Cleft adhesion costs, consisting of both hospital and surgical costs, were $9370.55 ± $1691.79. Analysis of log costs demonstrated a significant difference between the groups, with the mean total cost for nasoalveolar molding significantly lower than that for adhesion (p < 0.0001). Nasoalveolar molding patients had significantly more made, cancelled, no-show, and missed visits and a higher missed percentage than adhesion patients (p < 0.0001) for all except no-show appointments, (p = 0.0199), indicating a higher burden of care to families. Nasoalveolar molding may cost less before formal cleft lip repair treatment than cleft lip adhesion. Third-party payers who cover adhesion and not nasoalveolar molding may not be acting in their own best interest. Nasoalveolar molding places a higher burden of care on families, and this fact should be considered in planning treatment.

Cleft extension and risks of other birth defects in children with isolated cleft palate.

PubMed

Chetpakdeechit, Woranuch; Mohlin, Bengt; Persson, Christina; Hagberg, Catharina

2010-03-01

To study the risks of having other birth defects in children born with an isolated cleft palate (iCP) when the length of the cleft was taken into account. The hypothesis was that a newborn with an extensive cleft lesion may have an increased risk of other birth defects compared to a child with a less extensive cleft of the palate. All Caucasian children with iCP born between 1975 and 2005 in the southwestern region of Sweden were included. Data were collected from standardized medical records and the length of the cleft was checked on the pre-surgical dental cast for each child. A total of 343 children were born with an iCP. The incidence was 0.64/1000 live births. Thirty-four percent of children with either a total or partial iCP had other birth defects. The risk was 1.7 times higher for a total compared to a partial iCP. The two most common birth defects were congenital heart disease and intellectual disability. Ear problems related to infections were registered in 43% of cases. Fifteen percent of the children had the Pierre Robin sequence, which was analyzed as a separate variable and not included as a birth defect. The length of the iCP was found to influence the risk of having another birth defect as the total palatal clefts were more often combined with other birth defects compared to partial clefts. Careful medical check-ups are important for newborns with iCP since they have increased risks of other birth defects.

CLEFT PALATE. FOUNDATIONS OF SPEECH PATHOLOGY SERIES.

ERIC Educational Resources Information Center

RUTHERFORD, DAVID; WESTLAKE, HAROLD

DESIGNED TO PROVIDE AN ESSENTIAL CORE OF INFORMATION, THIS BOOK TREATS NORMAL AND ABNORMAL DEVELOPMENT, STRUCTURE, AND FUNCTION OF THE LIPS AND PALATE AND THEIR RELATIONSHIPS TO CLEFT LIP AND CLEFT PALATE SPEECH. PROBLEMS OF PERSONAL AND SOCIAL ADJUSTMENT, HEARING, AND SPEECH IN CLEFT LIP OR CLEFT PALATE INDIVIDUALS ARE DISCUSSED. NASAL RESONANCE…

A 12-year anthropometric evaluation of the nose in bilateral cleft lip-cleft palate patients following nasoalveolar molding and cutting bilateral cleft lip and nose reconstruction.

PubMed

Garfinkle, Judah S; King, Timothy W; Grayson, Barry H; Brecht, Lawrence E; Cutting, Court B

2011-04-01

Patients with bilateral cleft lip-cleft palate have nasal deformities including reduced nasal tip projection, widened ala base, and a deficient or absent columella. The authors compare the nasal morphology of patients treated with presurgical nasoalveolar molding followed by primary lip/nasal reconstruction with age-matched noncleft controls. A longitudinal, retrospective review of 77 nonsyndromic patients with bilateral cleft lip-cleft palate was performed. Nasal tip protrusion, alar base width, alar width, columella length, and columella width were measured at five time points spanning 12.5 years. A one-sample t test was used for statistical comparison to an age-matched noncleft population published by Farkas. All five measurements demonstrated parallel, proportional growth in the treatment group relative to the noncleft group. The nasal tip protrusion, alar base width, alar width, columella length, and columella width were not statistically different from those of the noncleft, age-matched control group at age 12.5 years. The nasal tip protrusion also showed no difference in length at 7 and 12.5 years. The alar width and alar base width were significantly wider at the first four time points. This is the first study to describe nasal morphology following nasoalveolar molding and primary surgical repair in patients with bilateral cleft lip-cleft palate through the age of 12.5 years. In this investigation, the authors have shown that patients with bilateral cleft lip-cleft palate treated at their institution with nasoalveolar molding and primary nasal reconstruction, performed at the time of their lip repair, attained nearly normal nasal morphology through 12.5 years of age.

Centre-based statistics of cleft lip with/without alveolus and palate as well as cleft palate only patients in Aden, Yemen.

PubMed

Esmail, Ahlam Hibatulla Ali; Abdo, Muhgat Ahmed Ali; Krentz, Helga; Lenz, Jan-Hendrik; Gundlach, Karsten K H

2014-06-01

The purpose of the study was to report the types and patterns of cleft lip with/without cleft alveolus and palate as well as cleft palate only as seen in Aden, Yemen. Retrospective, centre-based study conducted at the Cleft Lip and Palate Centre, Aden University, Yemen. Statistical evaluation of the data from all cleft patients who were registered at or referred to this centre during the years 2005-2011. A total of 1110 cleft patients were seen during the period studied (2005-2011). Amongst these there were 183 (16.48%) with a cleft lip and 144 (12.98) with a cleft of lip and alveolus, 228 (20.54%) had a cleft palate, and 555 (50%) had a combination of cleft lip, alveolus, and palate. The clefts were found more often in males than in females (56.5% boys versus 43.5% girls). This difference was statistically significant (p ≤ 0.001). Statistically significant sex differences were also noted when evaluating the various cleft types. Isolated cleft palates were found most often in females. Among the cleft palate cases there were 102 (9.2%) with a cleft soft palate only. The ages of the patients were between one day and 40 years. Two hundred and one children (18%) had a positive family history of clefts. Among the risk factors considered in this study, consanguineous marriages among cousins were found most frequently (in 48% of the cases). In contrast to this, only 10% of the mothers had reported to have been taking medication directly prior to or during the first trimester of their pregnancy. On average the mothers were neither very young nor very old. The prevalence rate of orofacial cleft types among this Yemeni sample was similar to prevalence rates previously reported in white Caucasians. The present study did neither find many cases with medication before, nor during, pregnancy; there were few young or very old mothers; and the incidence of positive family histories was similar to those found in other studies on clefts. However, consanguineous marriages were

The Effect of Cleft Size in Infants With Unilateral Cleft Lip and Palate on Mixed Dentition Dental Arch Relationship.

PubMed

Russell, Lisa M; Long, Ross E; Romberg, Elaine

2015-09-01

To determine the relationship between infant cleft size and dental arch relationship in the mixed dentition in patients with complete unilateral cleft lip and palate. Retrospective analysis of mixed longitudinal records. A total of 29 consecutively enrolled patients with unilateral cleft lip and palate participated in a longitudinal study that included dental casts prior to lip surgery (T1: age 1 month), prior to palate surgery (T2: age 10 months), and in mixed dentition (T3: age 9 years). All infants were managed with lip repair (2.5 months), hard palate repair (12 months), and soft palate repair (16 months) but without any presurgical orthopedic treatment and no orthodontic intervention prior to mixed dentition records. The outcome measures included determination of an infant cleft severity ratio, defined as the ratio of palatal cleft area to palatal surface area, at both T1 and T2, and the 9-year-old (T3) dental arch relationship as determined using the GOSLON Yardstick. The correlation between the infant cleft severity ratio at T1 and T2 and the later GOSLON Yardstick score at T3 was determined using Pearson r. The intrarater reliability of the infant cleft severity ratio was assessed with Pearson r and the interrater reliability of the GOSLON Yardstick ratings, by weighted kappa. Reliability for the infant cleft severity ratio method was r = .92 to .95, and for GOSLON ratings κ = .81 to .91. There was no significant correlation between 1-month infant cleft severity ratio and GOSLON (r = .3) and 10-month infant cleft severity ratio and GOSLON (r = .1). Cleft size versus the amount of palatal tissue available for repair and concern over more scarring with a greater infant cleft severity ratio were not factors in affecting the eventual dental arch relationship.

Rare Nonneoplastic Cysts of Pancreas

PubMed Central

Cho, Jae Hee

2015-01-01

Pancreatic cysts represent a small proportion of pancreatic diseases, but their incidence has been recently increasing. Most pancreatic cysts are identified incidentally, causing a dilemma for both clinicians and patients. In contrast to ductal adenocarcinoma, neoplastic pancreatic cysts may be cured by resection. In general, pancreatic cysts are classified as neoplastic or non-neoplastic cysts. The predominant types of neoplastic cysts include intraductal papillary mucinous neoplasms, mucinous cystic neoplasms, serous cystic neoplasms, and solid pseudopapillary neoplasms. With the exception of serous type, neoplastic cysts, have malignant potential, and in most cases requires resection. Non-neoplastic cysts include pseudocyst, retention cyst, benign epithelial cysts, lymphoepithelial cysts, squamous lined cysts (dermoid cyst and epidermal cyst in intrapancreatic accessory spleen), mucinous nonneoplastic cysts, and lymphangiomas. The incidence of nonneoplastic, noninflammatory cysts is about 6.3% of all pancreatic cysts. Despite the use of high-resolution imaging technologies and cytologic tissue acquisition with endosonography, distinguishing nonneoplastic from neoplastic cysts remains difficult with most differentiations made postoperatively. Nonetheless, the definitive distinction between non-neoplastic and neoplastic cysts is crucial as unnecessary surgery could be avoided with proper diagnosis. Therefore, consideration of these rare disease entities should be entertained before deciding on surgery. PMID:25674524

Correlations between initial cleft size and dental anomalies in unilateral cleft lip and palate patients after alveolar bone grafting.

PubMed

Jabbari, Fatima; Reiser, Erika; Thor, Andreas; Hakelius, Malin; Nowinski, Daniel

2016-01-01

Objective To determine in individuals with unilateral cleft lip and palate the correlation between initial cleft size and dental anomalies, and the outcome of alveolar bone grafting. Methods A total of 67 consecutive patients with non-syndromic unilateral complete cleft lip and palate (UCLP) were included from the cleft lip and palate-craniofacial center, Uppsala University Hospital, Sweden. All patients were operated by the same surgeon and treated according to the Uppsala protocol entailing: lip plasty at 3 months, soft palate closure at 6 months, closure of the residual cleft in the hard palate at 2 years of age, and secondary alveolar bone grafting (SABG) prior to the eruption of the permanent canine. Cleft size was measured on dental casts obtained at the time of primary lip plasty. Dental anomalies were registered on radiographs and dental casts obtained before bone grafting. Alveolar bone height was evaluated with the Modified Bergland Index (mBI) at 1 and 10-year follow-up. Results Anterior cleft width correlated positively with enamel hypoplasia and rotation of the central incisor adjacent to the cleft. There was, however, no correlation between initial cleft width and alveolar bone height at either 1 or 10 years follow-up. Conclusions Wider clefts did not seem to have an impact on the success of secondary alveolar bone grafting but appeared to be associated with a higher degree of some dental anomalies. This finding may have implications for patient counseling and treatment planning.

Hearing outcomes in patients with cleft lip/palate.

PubMed

Skuladottir, Hildur; Sivertsen, Ase; Assmus, Jorg; Remme, Asa Rommetveit; Dahlen, Marianne; Vindenes, Hallvard

2015-03-01

Objective : Children with cleft lip and palate or cleft palate only have a high incidence of conductive hearing loss from otitis media with effusion. Studies demonstrating longitudinal results are lacking. This study was undertaken to investigate long-term longitudinal hearing outcomes of children with cleft lip and/or cleft palate and cleft palate only. Design : Retrospective chart review. Setting : Clinical charts of patients born with cleft lip and palate or cleft palate only in 1985 to 1994 who were referred to the cleft team in Bergen, Norway. Study findings include 15 years of follow-up. Participants : The study population consisted of 317 children of whom 159 had nonsyndromic cleft lip and palate and 158 had nonsyndromic cleft palate. Main Outcome Measures : Pure tone average calculated from pure tone audiometry at ages 4, 6, and 15 years. Results : The median pure tone average significantly improved with increasing age. For the cleft lip and palate group, the median pure tone average at ages 4, 6, and 15 years was 16 dB hearing level (HL), 13 dB HL, and 9 dB HL, respectively (P ≤ .001). In the cleft palate group the median pure tone average at ages 4, 6, and 15 years was 15 dB HL, 12 dB HL, and 9 dB HL, respectively (P ≤ .001). There was no significant difference in the hearing levels between the two groups. Patients who had surgical closure of the palate at age 18 months had a significantly better pure tone average outcome at age 15 compared with patients who had surgery at 12 months. Conclusions : Hearing improves significantly from childhood to adolescence in patients with cleft lip and palate and cleft palate only.

The Fetal Cleft palate: V. Elucidation of the Mechanism of Palatal Clefting in the Congenital Caprine Model

USDA-ARS?s Scientific Manuscript database

Maternal ingestion of Nicotiana glauca from gestation days 32 through 41 results in a high incidence of cleft palate in Spanish goats. This caprine cleft palate model was used to evaluate the temporal sequence of palatal shelf fusion throughout the period of cleft induction with the poisonous plant...

Occlusal Classification in Relation to Original Cleft Width in Patients With Unilateral Cleft Lip and Palate.

PubMed

Huang, Andrew H; Patel, Kamlesh B; Maschhoff, Clayton W; Huebener, Donald V; Skolnick, Gary B; Naidoo, Sybill D; Woo, Albert S

2015-09-01

To determine a correlation between the width of the cleft palate measured at the time of lip adhesion, definitive lip repair, and palatoplasty and the subsequent occlusal classification of patients born with unilateral cleft lip and palate. Retrospective, observational study. Referral, urban, children's hospital Participants : Dental models and records of 270 patients were analyzed. None. Angle occlusion classification. The mean age at which occlusal classification was determined was 11 ± 0.3 years. Of the children studies, 84 were diagnosed with Class I or II occlusion, 67 were diagnosed with Class III occlusion, and 119 were lost to follow up or transferred care. Mean cleft widths were significantly larger in subjects with Class III occlusion for all measures at time of lip adhesion and definitive lip repair (P < .02). At time of palatoplasty, cleft widths were significantly greater at the alveolus (P = .025) but not at the midportion of the hard palate (P = .35) or posterior hard palate (P = .10). Cleft widths from the lip through to the posterior hard palate are generally greater in children who are diagnosed with Class III occlusion later in life. Notably, the alveolar cleft width is significantly greater at each time point for patients who went on to develop Class III occlusion. There were no significant differences in cleft widths between patients diagnosed later with Class I and Class II occlusions.

[Resection of the recurrent third branchial fistula under gastroscope with assistance of yellow zebra guidewire].

PubMed

Feng, X; Huang, Z C; Tao, F; Ou, X L

2016-02-01

To investigate clinical aspects and a new operative method for resecting third branchial fistula. The clinical aspects of 4 patients with third branchial fistula were retrospectively analyzed. It is difficult to locate the inner orifice of fistula through neck path due to tiny diameter of inner orifice. The inner orifice could be found and closed effectively by inserting yellow zebra guidewire from sinus piriformis with gastroscope. The mucous membrane of sinus piriformis could not be damaged due to the soft pointed end of yellow zebra guidewire. 4 cases were treated successfully without pharyngeal fistula or recurrent laryngeal nerve injury. No recurrent infections were found in all cases with follows-up of 6-66 months. Ineffectiveness of radiography with meglumine diatrizoate or oral administration of methylene blue before operation indicates tiny fistula. In this case, resection of third branchial fistula with the assistance of gastroscope and yellow zebra guidewire under general anesthesia can be performed. This innovative method of diagnosis and treatment is worth of application clinically.

Nasal Airway Dysfunction in Children with Cleft Lip and Cleft Palate: Results of a Cross-Sectional Population-Based Study, with Anatomical and Surgical Considerations.

PubMed

Sobol, Danielle L; Allori, Alexander C; Carlson, Anna R; Pien, Irene J; Watkins, Stephanie E; Aylsworth, Arthur S; Meyer, Robert E; Pimenta, Luiz A; Strauss, Ronald P; Ramsey, Barry L; Raynor, Eileen; Marcus, Jeffrey R

2016-12-01

The aesthetic aspects of the cleft lip nasal deformity have been appreciated for over a century, but the functional implications have remained largely underappreciated or misunderstood. This study describes the frequency and severity of nasal obstructive symptoms among children with cleft lip and/or cleft palate, addressing the hypotheses that age, cleft type, and severity are associated with the development of nasal obstructive symptoms. Children with nonsyndromic cleft lip and/or cleft palate and a comparison group of unaffected children born from 1997 to 2003 were identified through the North Carolina Birth Defects Monitoring Program and birth certificates. Nasal airway obstruction was measured using the validated Nasal Obstruction Symptom Evaluation scale. The survey was completed by parental proxy for 176 children with cleft lip and/or cleft palate and 333 unaffected children. Nasal obstructive symptoms were more frequently reported in cleft lip with cleft palate compared with unaffected children (p < 0.0001); children who had isolated cleft lip with or without alveolus and isolated cleft palate were not statistically different from unaffected children. Patients with unilateral cleft lip with cleft palate were found to be more severely affected than bilateral cases. Nasal obstruction was observed in early childhood, although severity worsened in adolescence. This population-based study reports a high prevalence of nasal obstructive symptoms in children with cleft lip and/or cleft palate based on type and severity of the cleft. The authors encourage cleft teams to consider using this or similar screening methods to identify which children may benefit from functional rhinoplasty. Risk, I.

Ear Infection in Isolated Cleft Lip: Etiological Implications

PubMed Central

Ruegg, Teresa A.; Cooper, Margaret E.; Leslie, Elizabeth J.; Ford, Matthew D.; Wehby, George L.; Deleyiannis, Frederic W.B.; Czeizel, Andrew E.; Hecht, Jacqueline T.; Marazita, Mary L.; Weinberg, Seth M.

2015-01-01

Background and Hypothesis Chronic ear infections are a common occurrence in children with orofacial clefts involving the secondary palate. Less is known about the middle ear status of individuals with isolated clefts of the lip, although several studies have reported elevated rates of ear infection in this group. The purpose of this retrospective study was to test the hypothesis that chronic ear infections occur more frequently in isolated cleft lip cases (n=94) compared with controls (n=183). Methods A questionnaire was used to obtain information on history of chronic ear infection. The association between ear infection status (present/absent) and cleft lip status (cleft lip case/control) was tested using both chi-square and logistic regression. Results and Conclusions The reported occurrence of chronic ear infection was significantly greater in cleft lipcases (31%) compared to unaffected controls (11%). After adjusting for age and sex, having a cleft lip increased the odds of being positive for ear infection by a factor greater than three (OR=3.698; 95%CI=1.91–7.14). Within cleft lipcases, there was no difference in the occurrence of ear infection by defect laterality or by the type of clefting present in the family history. Although velopharyngeal insufficiency was present in 18.4% of our cleft lip sample, there was no statistical association between ear infection and abnormal speech patterns. These results may have potential implications both for the clinical management of isolated cleft lip cases and for understanding the etiology of orofacial clefting. PMID:26153759

Ear Infection in Isolated Cleft Lip: Etiological Implications.

PubMed

Ruegg, Teresa A; Cooper, Margaret E; Leslie, Elizabeth J; Ford, Matthew D; Wehby, George L; Deleyiannis, Frederic W B; Czeizel, Andrew E; Hecht, Jacqueline T; Marazita, Mary L; Weinberg, Seth M

2017-03-01

  Chronic ear infections are a common occurrence in children with orofacial clefts involving the secondary palate. Less is known about the middle ear status of individuals with isolated clefts of the lip, although several studies have reported elevated rates of ear infection in this group. The purpose of this retrospective study was to test the hypothesis that chronic ear infections occur more frequently in isolated cleft lip cases (n = 94) compared with controls (n = 183).   A questionnaire was used to obtain information on history of chronic ear infection. The association between ear infection status (present/absent) and cleft lip status (cleft lip case/control) was tested using both chi-square and logistic regression.   The reported occurrence of chronic ear infection was significantly greater in cleft lip cases (31%) compared with unaffected controls (11%). After adjusting for age and sex, having a cleft lip increased the odds of being positive for ear infection by a factor greater than 3 (odds ratio = 3.698; 95% confidence interval = 1.91 to 7.14). Within cleft lip cases, there was no difference in the occurrence of ear infection by defect laterality or by the type of clefting present in the family history. Although velopharyngeal insufficiency was present in 18.4% of our cleft lip sample, there was no statistical association between ear infection and abnormal speech patterns. These results may have potential implications both for the clinical management of isolated cleft lip cases and for understanding the etiology of orofacial clefting.

[Rare location of arachnoid cysts. Extratemporal cysts].

PubMed

Martinez-Perez, Rafael; Hinojosa, José; Pascual, Beatriz; Panaderos, Teresa; Welter, Diego; Muñoz, María J

2016-01-01

The therapeutic management of arachnoid cysts depends largely on its location. Almost 50% of arachnoid cysts are located in the temporal fossa-Sylvian fissure, whereas the other half is distributed in different locations, sometimes exceptional. Under the name of infrequent location arachnoid cysts, a description is presented of those composed of 2 sheets of arachnoid membrane, which are not located in the temporal fossa, and are primary or congenital. Copyright © 2015 Sociedad Española de Neurocirugía. Published by Elsevier España. All rights reserved.

Odontogenic Cysts and Neoplasms.

PubMed

Bilodeau, Elizabeth Ann; Collins, Bobby M

2017-03-01

This article reviews a myriad of common and uncommon odontogenic cysts and tumors. The clinical presentation, gross and microscopic features, differential diagnosis, prognosis, and diagnostic pitfalls are addressed for inflammatory cysts (periapical cyst, mandibular infected buccal cyst/paradental cyst), developmental cysts (dentigerous, lateral periodontal, glandular odontogenic, orthokeratinized odontogenic cyst), benign tumors (keratocystic odontogenic tumor, ameloblastoma, adenomatoid odontogenic tumor, calcifying epithelial odontogenic tumor, ameloblastic fibroma and fibroodontoma, odontoma, squamous odontogenic tumor, calcifying cystic odontogenic tumor, primordial odontogenic tumor, central odontogenic fibroma, and odontogenic myxomas), and malignant tumors (clear cell odontogenic carcinoma, ameloblastic carcinoma, ameloblastic fibrosarcoma). Copyright © 2016 Elsevier Inc. All rights reserved.

Dental materials for cleft palate repair.

PubMed

Sharif, Faiza; Ur Rehman, Ihtesham; Muhammad, Nawshad; MacNeil, Sheila

2016-04-01

Numerous bone and soft tissue grafting techniques are followed to repair cleft of lip and palate (CLP) defects. In addition to the gold standard surgical interventions involving the use of autogenous grafts, various allogenic and xenogenic graft materials are available for bone regeneration. In an attempt to discover minimally invasive and cost effective treatments for cleft repair, an exceptional growth in synthetic biomedical graft materials have occurred. This study gives an overview of the use of dental materials to repair cleft of lip and palate (CLP). The eligibility criteria for this review were case studies, clinical trials and retrospective studies on the use of various types of dental materials in surgical repair of cleft palate defects. Any data available on the surgical interventions to repair alveolar or palatal cleft, with natural or synthetic graft materials was included in this review. Those datasets with long term clinical follow-up results were referred to as particularly relevant. The results provide encouraging evidence in favor of dental and other related biomedical materials to fill the gaps in clefts of lip and palate. The review presents the various bones and soft tissue replacement strategies currently used, tested or explored for the repair of cleft defects. There was little available data on the use of synthetic materials in cleft repair which was a limitation of this study. In conclusion although clinical trials on the use of synthetic materials are currently underway the uses of autologous implants are the preferred treatment methods to date. Copyright © 2015 Elsevier B.V. All rights reserved.

Tobacco smoking and oral clefts: a meta-analysis.

PubMed Central

Little, Julian; Cardy, Amanda; Munger, Ronald G.

2004-01-01

OBJECTIVE: To examine the association between maternal smoking and non-syndromic orofacial clefts in infants. METHODS: A meta-analysis of the association between maternal smoking during pregnancy was carried out using data from 24 case-control and cohort studies. FINDINGS: Consistent, moderate and statistically significant associations were found between maternal smoking and cleft lip, with or without cleft palate (relative risk 1.34, 95% confidence interval 1.25-1.44) and between maternal smoking and cleft palate (relative risk 1.22, 95% confidence interval 1.10-1.35). There was evidence of a modest dose-response effect for cleft lip with or without cleft palate. CONCLUSION: The evidence of an association between maternal tobacco smoking and orofacial clefts is strong enough to justify its use in anti-smoking campaigns. PMID:15112010

The occult submucous cleft palate.

PubMed

Kaplan, E N

1975-10-01

We have studied 41 patients with classic submucous cleft and 32 cases with occult submucous cleft. Both groups have the same anatomic abnormality that leads to velar dysfunction-the insertion of the palate muscles onto the hard palate rather than onto the midline soft palate raphe. However, the occult submucous cleft palate does not have the classic triad of bifid uvula, hard palate bony notch, and furrow in the midline of the soft palate. Characteristic facial features, cephalmetric x-rays, and cine voice studies can help make a presumptive diagnosis of occult submucous cleft palate. Surgical management includes a diagnostic palate exploration to identify muscle configuration followed by levator muscle sling reconstruction, palate pushback, and pharyngeal flap. Excellent speech results are obtained except with patients having palate paresis.

Early Mother-Child Interaction and Later Quality of Attachment in Infants With an Orofacial Cleft Compared to Infants Without Cleft.

PubMed

Habersaat, Stephanie; Monnier, Maryline; Peter, Camille; Bolomey, Luce; Borghini, Ayala; Despars, Josée; Pierrehumbert, Blaise; Müller-Nix, Carole; Ansermet, François; Hohlfeld, Judith

2013-04-23

Objective :  The main objective of this study was to assess mother-child patterns of interaction in relation to later quality of attachment in a group of children with an orofacial cleft compared with children without cleft. Design :  Families were contacted when the child was 2 months old for a direct assessment of mother-child interaction and then at 12 months for a direct assessment of the child's attachment. Data concerning socioeconomical information and posttraumatic stress symptoms in mothers were collected at the first appointment. Participants :  Forty families of children with a cleft and 45 families of children without cleft were included in the study. Families were recruited at birth in the University Hospital of Lausanne. Results :  Results showed that children with a cleft were more difficult and less cooperative during interaction at 2 months of age with their mother compared with children without a cleft. No significant differences were found in mothers or in dyadic interactive styles. Concerning the child's attachment at 12 months old, no differences were found in attachment security. However, secure children with a cleft were significantly more avoidant with their mother during the reunion episodes than secure children without cleft. Conclusion :  Despite the facial disfigurement and the stress engendered by treatment during the first months of the infant's life, children with cleft and their mothers are doing as well as families without cleft with regard to the mothers' mental health, mother-child relationships, and later quality of attachment. A potential contribution for this absence of difference may be the pluridisciplinary support that families of children with cleft benefit from in Lausanne.

Early mother-child interaction and later quality of attachment in infants with an orofacial cleft compared to infants without cleft.

PubMed

Habersaat, Stephanie; Monnier, Maryline; Peter, Camille; Bolomey, Luce; Borghini, Ayala; Despars, Josée; Pierrehumbert, Blaise; Müller-Nix, Carole; Ansermet, François; Hohlfeld, Judith

2013-11-01

Objective : The main objective of this study was to assess mother-child patterns of interaction in relation to later quality of attachment in a group of children with an orofacial cleft compared with children without cleft. Design : Families were contacted when the child was 2 months old for a direct assessment of mother-child interaction and then at 12 months for a direct assessment of the child's attachment. Data concerning socioeconomical information and posttraumatic stress symptoms in mothers were collected at the first appointment. Participants : Forty families of children with a cleft and 45 families of children without cleft were included in the study. Families were recruited at birth in the University Hospital of Lausanne. Results : Results showed that children with a cleft were more difficult and less cooperative during interaction at 2 months of age with their mother compared with children without a cleft. No significant differences were found in mothers or in dyadic interactive styles. Concerning the child's attachment at 12 months old, no differences were found in attachment security. However, secure children with a cleft were significantly more avoidant with their mother during the reunion episodes than secure children without cleft. Conclusion : Despite the facial disfigurement and the stress engendered by treatment during the first months of the infant's life, children with cleft and their mothers are doing as well as families without cleft with regard to the mothers' mental health, mother-child relationships, and later quality of attachment. A potential contribution for this absence of difference may be the pluridisciplinary support that families of children with cleft benefit from in Lausanne.

Bacteria associated with cysts of the soybean cyst nematode (Heterodera glycines).

PubMed

Nour, Sarah M; Lawrence, John R; Zhu, Hong; Swerhone, George D W; Welsh, Martha; Welacky, Tom W; Topp, Edward

2003-01-01

The soybean cyst nematode (SCN), Heterodera glycines, causes economically significant damage to soybeans (Glycine max) in many parts of the world. The cysts of this nematode can remain quiescent in soils for many years as a reservoir of infection for future crops. To investigate bacterial communities associated with SCN cysts, cysts were obtained from eight SCN-infested farms in southern Ontario, Canada, and analyzed by culture-dependent and -independent means. Confocal laser scanning microscopy observations of cyst contents revealed a microbial flora located on the cyst exterior, within a polymer plug region and within the cyst. Microscopic counts using 5-(4,6-dichlorotriazine-2-yl)aminofluorescein staining and in situ hybridization (EUB 338) indicated that the cysts contained (2.6 +/- 0.5) x 10(5) bacteria (mean +/- standard deviation) with various cellular morphologies. Filamentous fungi were also observed. Live-dead staining indicated that the majority of cyst bacteria were viable. The probe Nile red also bound to the interior polymer, indicating that it is lipid rich in nature. Bacterial community profiles determined by denaturing gradient gel electrophoresis analysis were simple in composition. Bands shared by all eight samples included the actinobacterium genera Actinomadura and STREPTOMYCES: A collection of 290 bacteria were obtained by plating macerated surface-sterilized cysts onto nutrient broth yeast extract agar or on actinomycete medium. These were clustered into groups of siblings by repetitive extragenic palindromic PCR fingerprinting, and representative isolates were tentatively identified on the basis of 16S rRNA gene sequence. Thirty phylotypes were detected, with the collection dominated by Lysobacter and Variovorax spp. This study has revealed the cysts of this important plant pathogen to be rich in a variety of bacteria, some of which could presumably play a role in the ecology of SCN or have potential as biocontrol agents.

Bacteria Associated with Cysts of the Soybean Cyst Nematode (Heterodera glycines)

PubMed Central

Nour, Sarah M.; Lawrence, John R.; Zhu, Hong; Swerhone, George D. W.; Welsh, Martha; Welacky, Tom W.; Topp, Edward

2003-01-01

The soybean cyst nematode (SCN), Heterodera glycines, causes economically significant damage to soybeans (Glycine max) in many parts of the world. The cysts of this nematode can remain quiescent in soils for many years as a reservoir of infection for future crops. To investigate bacterial communities associated with SCN cysts, cysts were obtained from eight SCN-infested farms in southern Ontario, Canada, and analyzed by culture-dependent and -independent means. Confocal laser scanning microscopy observations of cyst contents revealed a microbial flora located on the cyst exterior, within a polymer plug region and within the cyst. Microscopic counts using 5-(4,6-dichlorotriazine-2-yl)aminofluorescein staining and in situ hybridization (EUB 338) indicated that the cysts contained (2.6 ± 0.5) × 105 bacteria (mean ± standard deviation) with various cellular morphologies. Filamentous fungi were also observed. Live-dead staining indicated that the majority of cyst bacteria were viable. The probe Nile red also bound to the interior polymer, indicating that it is lipid rich in nature. Bacterial community profiles determined by denaturing gradient gel electrophoresis analysis were simple in composition. Bands shared by all eight samples included the actinobacterium genera Actinomadura and Streptomyces. A collection of 290 bacteria were obtained by plating macerated surface-sterilized cysts onto nutrient broth yeast extract agar or on actinomycete medium. These were clustered into groups of siblings by repetitive extragenic palindromic PCR fingerprinting, and representative isolates were tentatively identified on the basis of 16S rRNA gene sequence. Thirty phylotypes were detected, with the collection dominated by Lysobacter and Variovorax spp. This study has revealed the cysts of this important plant pathogen to be rich in a variety of bacteria, some of which could presumably play a role in the ecology of SCN or have potential as biocontrol agents. PMID:12514048

Recurrent pyriform sinus fistula successfully treated by endoscopic Glubran 2 sealing: A rare case and literature review.

PubMed

Di Nardo, Giovanni; Valentini, Valentino; Angeletti, Diletta; Frediani, Simone; Iannella, Giannicola; Cozzi, Denis; Roggini, Mario; Magliulo, Giuseppe

2016-01-01

The authors present the case of a 3-year-old girl with a history of complicated surgery for removing a third branchial cleft fistula. An endoscopic approach using N-butyl-2-acrylate and metacrilosisolfolane glue (GLUBRAN 2) to seal the fistula was performed. The clinical and radiological 6-year follow-up confirmed the absence of the fistulous orifice and the persistence of scar due to previous open-neck surgical procedures. endoscopic Glubran 2 sealing has been an effective treatment procedure for branchial fistula.

Bone Grafting the Cleft Maxilla

MedlinePlus

... of Publications Last Updated: Oct 25, 2007 American Cleft Palate-Craniofacial Association 1504 East Franklin Street, Suite 102 ... order bottles Order ACPA publications © Copyright 2017 American Cleft Palate-Craniofacial Association. Website by Mixer Creative Follow us ...

Expression of Ki-67 in odontogenic cysts: A comparative study between odontogenic keratocysts, radicular cysts and dentigerous cysts.

PubMed

Modi, Tapan G; Chalishazar, Monali; Kumar, Malay

2018-01-01

Odontogenic cysts are the most common cysts of the jaws and are formed from the remnants of the odontogenic apparatus. Among these odontogenic cysts, radicular cysts (RCs) (about 60% of all diagnosed jaw cysts), dentigerous cysts (DCs) (16.6% of all jaw cysts) and odontogenic keratocysts (OKCs) (11.2% of all developmental odontogenic cysts) are the most common. The behavior of any lesion is generally reflected by its growth potential. Growth potential is determined by measuring the cell proliferative activity. The cell proliferative activity is measured by various methods among which immunohistochemistry (IHC) is the commonly used technique. Most of the IHC studies on cell proliferation have been based on antibodies such as Ki-67 and proliferating cell nuclear antigen. In the present study, the total sample size comprised of 45 cases of odontogenic cysts, with 15 cases each of OKC, RC and DC. Here, an attempt is made to study immunohistochemical (streptavidin-biotin detection system HRP-DAB) method to assess the expression of Ki-67 in different layers of the epithelial lining of OKCs, RCs and DCs. Ki-67 positive cells were highest in epithelium of OKC as compared to DC and RC. The increased Ki-67 labeling index and its expression in suprabasal cell layers of epithelial lining in OKC and its correlation with suprabasal cell layers of epithelial lining in DC and RC could contribute toward its clinically aggressive behavior. OKC is of more significance to the oral pathologist and oral surgeon because of its specific histopathological features, high recurrence rate and aggressive behavior.

Simple Kidney Cysts

MedlinePlus

... Solitary Kidney Your Kidneys & How They Work Simple Kidney Cysts What are simple kidney cysts? Simple kidney cysts are abnormal, fluid-filled ... that form in the kidneys. What are the kidneys and what do they do? The kidneys are ...

Branchial fistula arising from pyriform fossa: CT diagnosis of a case and discussion of radiological features.

PubMed

Chauhan, Narvir Singh; Sharma, Yash Paul; Bhagra, Tilak; Sud, Bindu

2012-01-01

Anomalies of third or fourth branchial apparatus origin are very uncommon and present as recurrent neck infections or thyroiditis with a predominant left-sided involvement. Radiological diagnosis requires a high index of suspicion and is critical for initiation of proper treatment. We describe a case of branchial sinus of pyriform fossa with external fistulization that presented in adulthood and was diagnosed on computed tomographic scan. The radiological features of this rare anomaly are revisited. Copyright © 2012 Elsevier Inc. All rights reserved.

Post-surgical wound management of pilonidal cysts with a haemoglobin spray: a case series.

PubMed

Mustafi, N; Engels, P

2016-04-01

Painful acute cysts in the natal cleft or lower back, known as pilonidal sinus disease, are a severe burden to many younger patients. Although surgical intervention is the preferred first line treatment, postsurgical wound healing disturbances are frequently reported due to infection or other complications. Different treatment options of pilonidal cysts have been discussed in the literature, however, no standardised guideline for the postsurgical wound treatment is available. After surgery, a common recommended treatment to patients is rinsing the wound with clean water and dressing with a sterile compress. We present a case series of seven patients with wounds healing by secondary intention after surgical intervention of a pilonidal cyst. The average age of the patients was 40 years old. Of the seven patients, three had developed a wound healing disturbance, one wound had started to develop a fibrin coating and three were in a good condition. The applied wound care regimens comprised appropriate mechanical or autolytic debridement, rinsing with an antimicrobial solution, haemoglobin application, and primary and secondary dressings. In all seven cases a complete wound closure was achieved within an average of 76 days with six out of seven wounds achieving wound closure within 23-98 days. Aesthetic appearance was deemed excellent in five out of seven cases excellent and acceptable in one. Treatment of one case with a sustained healing disturbance did result in wound closure but with a poor aesthetic outcome and an extensive cicatrisation of the new tissue. Based on these results we recommend that to avoid healing disturbances of wounds healing by secondary intention after surgical pilonidal cyst intervention, an adequate wound care regime comprising appropriate wound debridement, rinsing, topically applied haemoglobin and adequate wound dressing is recommendable as early as possible after surgery.

Cleft Lip and Palate Surgery

MedlinePlus

... The experts in face, mouth and jaw surgery. Cleft Lip / Palate and Craniofacial Surgery This type of surgery is ... the carefully orchestrated, multiple-stage correctional program for cleft lip and palate patients. The goal is to help restore the ...

Maternal Risk Factors Associated with the Development of Cleft Lip and Cleft Palate in Mexico: A Case-Control Study.

PubMed

Angulo-Castro, Emmanuel; Acosta-Alfaro, Luis F; Guadron-Llanos, Alma M; Canizalez-Román, Adrian; Gonzalez-Ibarra, Fernando; Osuna-Ramírez, Ignacio; Murillo-Llanes, Joel

2017-07-01

Cleft lip and palate, the most common developmental deformity, is seen worldwide and the etiology involves a combination of genetic and environmental factors. The purpose of this study was to determine the maternal risk factors associated with the development of cleft lip and cleft palate. We conducted a case control study at the Women's Hospital in Culiacan, Mexico. Medical records were analyzed, including patients who delivered babies with and without cleft lip and cleft palate from January 2010 to December 2015. Multiple variables were analyzed, including gestational age, weight at birth, the use of folic acid and multivitamins during pregnancy, smoking, alcohol abuse, the use of recreational drugs, history of sexually transmitted infections, marital status, socioeconomic status, education, and nutritional status. We found that the maternal risk factors with the strongest association for the development of cleft lip and cleft palate were the following: patients who were not taking folic acid during pregnancy [OR 3.27, 95% CI 1.32-8.09], P=0.00; patients who were not taking vitamin supplementation during pregnancy [OR 2.6, 95% CI 1.19-7.27], P=0.02; smoking during pregnancy [OR 2.05, 95% CI 1.23-3.41], P=0.01; and alcohol abuse during pregnancy [OR 1.90, 95% CI 1.17-3.08], P=0.03. The main risk factors associated with the development of cleft lip and cleft palate in a Mexican population at the Women's hospital in Culiacan, Sinaloa, Mexico were smoking, alcohol abuse, and patients not taking folic acid and multivitamins during pregnancy.

Assessing Technical Performance and Determining the Learning Curve in Cleft Palate Surgery Using a High-Fidelity Cleft Palate Simulator.

PubMed

Podolsky, Dale J; Fisher, David M; Wong Riff, Karen W; Szasz, Peter; Looi, Thomas; Drake, James M; Forrest, Christopher R

2018-06-01

This study assessed technical performance in cleft palate repair using a newly developed assessment tool and high-fidelity cleft palate simulator through a longitudinal simulation training exercise. Three residents performed five and one resident performed nine consecutive endoscopically recorded cleft palate repairs using a cleft palate simulator. Two fellows in pediatric plastic surgery and two expert cleft surgeons also performed recorded simulated repairs. The Cleft Palate Objective Structured Assessment of Technical Skill (CLOSATS) and end-product scales were developed to assess performance. Two blinded cleft surgeons assessed the recordings and the final repairs using the CLOSATS, end-product scale, and a previously developed global rating scale. The average procedure-specific (CLOSATS), global rating, and end-product scores increased logarithmically after each successive simulation session for the residents. Reliability of the CLOSATS (average item intraclass correlation coefficient (ICC), 0.85 ± 0.093) and global ratings (average item ICC, 0.91 ± 0.02) among the raters was high. Reliability of the end-product assessments was lower (average item ICC, 0.66 ± 0.15). Standard setting linear regression using an overall cutoff score of 7 of 10 corresponded to a pass score for the CLOSATS and the global score of 44 (maximum, 60) and 23 (maximum, 30), respectively. Using logarithmic best-fit curves, 6.3 simulation sessions are required to reach the minimum standard. A high-fidelity cleft palate simulator has been developed that improves technical performance in cleft palate repair. The simulator and technical assessment scores can be used to determine performance before operating on patients.

Open conformation of a substrate-binding cleft: sup 19 F NMR studies of cleft angle in the D-galactose chemosensory receptor

DOE Office of Scientific and Technical Information (OSTI.GOV)

Luck, L.A.; Falke, J.J.

1991-07-02

The Escherichia coli D-galactose and D-glucose receptor is a two-domain structure with a sugar-binding site at the interface between domains. The structure of the closed cleft containing bound D-glucose has been determined crystalloghraphically, but the open cleft remains to be characterized. The present study illustrates a generalizable approach that is used to detect and analyze both the open- and closed-cleft conformations in solution. A {sup 19}F nucleus located inside the cleft is monitored by {sup 19}F NMR. When the cleft is occupied by D-glucose, the {sup 19}F nucleus is found to be inaccessible to the aqueous paramagnetic probe Gd{center dot}EDTA,more » verifying that the occupied cleft is closed in solution and inaccessible to bulk solvent. When the cleft is empty, the {sup 19}F nucleus becomes accessible to the paramagnet such that the distance of closest approach is r {le} 10 {angstrom}, indicating that the empty cleft opens at least transiently by an angle {theta} {ge} 18 {plus minus} 3{degrees}.« less

Complex branchial fistula: a variant arch anomaly.

PubMed

De Caluwé, D; Hayes, R; McDermott, M; Corbally, M T

2001-07-01

A 5-year-old boy presented with an infected left-sided branchial fistula. Despite antibiotic treatment and repeated excision of the fistula, purulent discharge from the wound persisted. Three-dimensional computed tomography (3D CT) reconstruction greatly facilitated the diagnosis and management of this case by showing the course of the fistulous tract. The complexity of the tract suggests that this represents a variant arch anomaly because it contains features of first, second, third, and fourth arch remnants. Copyright 2001 by W.B. Saunders Company.

Expression of Ki-67 in odontogenic cysts: A comparative study between odontogenic keratocysts, radicular cysts and dentigerous cysts

PubMed Central

Modi, Tapan G; Chalishazar, Monali; Kumar, Malay

2018-01-01

Introduction and Objectives: Odontogenic cysts are the most common cysts of the jaws and are formed from the remnants of the odontogenic apparatus. Among these odontogenic cysts, radicular cysts (RCs) (about 60% of all diagnosed jaw cysts), dentigerous cysts (DCs) (16.6% of all jaw cysts) and odontogenic keratocysts (OKCs) (11.2% of all developmental odontogenic cysts) are the most common. The behavior of any lesion is generally reflected by its growth potential. Growth potential is determined by measuring the cell proliferative activity. The cell proliferative activity is measured by various methods among which immunohistochemistry (IHC) is the commonly used technique. Most of the IHC studies on cell proliferation have been based on antibodies such as Ki-67 and proliferating cell nuclear antigen. Materials and Method: In the present study, the total sample size comprised of 45 cases of odontogenic cysts, with 15 cases each of OKC, RC and DC. Here, an attempt is made to study immunohistochemical (streptavidin-biotin detection system HRP-DAB) method to assess the expression of Ki-67 in different layers of the epithelial lining of OKCs, RCs and DCs. Observations and Results: Ki-67 positive cells were highest in epithelium of OKC as compared to DC and RC. Conclusion: The increased Ki-67 labeling index and its expression in suprabasal cell layers of epithelial lining in OKC and its correlation with suprabasal cell layers of epithelial lining in DC and RC could contribute toward its clinically aggressive behavior. OKC is of more significance to the oral pathologist and oral surgeon because of its specific histopathological features, high recurrence rate and aggressive behavior. PMID:29731577

Candidate Gene/Loci Studies in Cleft Lip/Palate and Dental Anomalies Finds Novel Susceptibility Genes for Clefts

PubMed Central

Vieira, Alexandre R.; McHenry, Toby G.; Daack-Hirsch, Sandra; Murray, Jeffrey C.; Marazita, Mary L.

2009-01-01

We revisited 42 families with two or more cleft affected siblings that participated in previous studies and collected complete dental information. Genotypes from 1489 single nucleotide polymorphism (SNP) markers located in 150 candidate genes/loci were reanalyzed. Two sets of association analyses were carried out. First we ran the analysis solely on the cleft status. Second we assigned affection to any cleft or dental anomaly (tooth agenesis, supernumerary teeth, and microdontia), and repeated the analysis. Significant over-transmission was seen for a SNP in ANKS6 (rs4742741, 9q22.33; p=0.0004) when a dental anomaly phenotype was included in the analysis. Significant over-transmission was also seen for a SNP in ERBB2 (rs1810132, 17q21.1; p=0.0006). In the clefts only data, the most significant result was also for ERBB2 (p=0.0006). Other markers with suggestive p-values included IRF6 and 6q21-q23 loci. In contrast to the above results, suggestive over-transmission of markers in GART, DPF3, and NRXN3 were seen only when the dental anomaly phenotype was included in the analysis. These findings support the hypothesis that some loci may contribute to both clefts and congenital dental anomalies. Thus, including dental anomalies information in the genetics analysis of cleft lip and palate will provide new opportunities to map susceptibility loci for clefts. PMID:18978678

Cooperative action of multiple cis-acting elements is required for N-myc expression in branchial arches: specific contribution of GATA3.

PubMed

Potvin, Eric; Beuret, Laurent; Cadrin-Girard, Jean-François; Carter, Marcelle; Roy, Sophie; Tremblay, Michel; Charron, Jean

2010-11-01

The precise expression of the N-myc proto-oncogene is essential for normal mammalian development, whereas altered N-myc gene regulation is known to be a determinant factor in tumor formation. Using transgenic mouse embryos, we show that N-myc sequences from kb -8.7 to kb +7.2 are sufficient to reproduce the N-myc embryonic expression profile in developing branchial arches and limb buds. These sequences encompass several regulatory elements dispersed throughout the N-myc locus, including an upstream limb bud enhancer, a downstream somite enhancer, a branchial arch enhancer in the second intron, and a negative regulatory element in the first intron. N-myc expression in the limb buds is under the dominant control of the limb bud enhancer. The expression in the branchial arches necessitates the interplay of three regulatory domains. The branchial arch enhancer cooperates with the somite enhancer region to prevent an inhibitory activity contained in the first intron. The characterization of the branchial arch enhancer has revealed a specific role of the transcription factor GATA3 in the regulation of N-myc expression. Together, these data demonstrate that correct N-myc developmental expression is achieved via cooperation of multiple positive and negative regulatory elements.

Development and Evaluation of a Blog about Cleft Lip and Cleft Palate and Hearing.

PubMed

Maximino, Luciana Paula; Zambonato, Ticiana Cristina de Freitas; Picolini-Pereira, Mirela Machado; Castro Corrêa, Camila de; Feniman, Mariza Ribeiro; Blasca, Wanderléia Quinhoneiro

2018-01-01

Introduction  Cleft lip and cleft palate can result in impairments in communication, specifically in hearing, making the use of technological resources such as blogs a fundamental guideline for health professionals. Objective  The aim of this study was to prepare and analyze the access to a blog about cleft lip and cleft palate and hearing as a pedagogical tool for health professionals. Methods  The first stage for the development of the blog was the selection of the content that would be addressed and the respective illustrations. The second stage was making the blog available through the WordPress platform, and the third stage included the evaluation of the blog, of the access to the WordPress statistical features, and of the quality of the blog through the Emory questionnaire, which was answered by 75 professionals. Results  The blog, titled "Fissure and Hearing", was developed with the architecture of a digital information environment containing a system of organization, navigation, labeling and search (first stage). The address hosting the blog was: http://fissuraeaudicao.wordpress.com (second stage). The result of the third stage included 56,269 views of the blog from different countries, and Brazil was the country with the highest viewing. Regarding the assessment by the Emory questionnaire, we found that for most of the major issues, the percentages obtained were or equal to 90%, while the analysis of the scales, navigation and structure presented the lowest scores. Conclusion  The blog was developed and enabled greater access to information available on the web about cleft lip and cleft palate and hearing.

Development and Evaluation of a Blog about Cleft Lip and Cleft Palate and Hearing

PubMed Central

Maximino, Luciana Paula; Zambonato, Ticiana Cristina de Freitas; Picolini-Pereira, Mirela Machado; Castro Corrêa, Camila de; Feniman, Mariza Ribeiro; Blasca, Wanderléia Quinhoneiro

2018-01-01

Introduction  Cleft lip and cleft palate can result in impairments in communication, specifically in hearing, making the use of technological resources such as blogs a fundamental guideline for health professionals. Objective  The aim of this study was to prepare and analyze the access to a blog about cleft lip and cleft palate and hearing as a pedagogical tool for health professionals. Methods  The first stage for the development of the blog was the selection of the content that would be addressed and the respective illustrations. The second stage was making the blog available through the WordPress platform, and the third stage included the evaluation of the blog, of the access to the WordPress statistical features, and of the quality of the blog through the Emory questionnaire, which was answered by 75 professionals. Results  The blog, titled “Fissure and Hearing”, was developed with the architecture of a digital information environment containing a system of organization, navigation, labeling and search (first stage). The address hosting the blog was: http://fissuraeaudicao.wordpress.com (second stage). The result of the third stage included 56,269 views of the blog from different countries, and Brazil was the country with the highest viewing. Regarding the assessment by the Emory questionnaire, we found that for most of the major issues, the percentages obtained were or equal to 90%, while the analysis of the scales, navigation and structure presented the lowest scores. Conclusion  The blog was developed and enabled greater access to information available on the web about cleft lip and cleft palate and hearing. PMID:29371900

Maternal Risk Factors Associated with the Development of Cleft Lip and Cleft Palate in Mexico: A Case-Control Study

PubMed Central

Angulo-Castro, Emmanuel; Acosta-Alfaro, Luis F; Guadron-Llanos, Alma M; Canizalez-Román, Adrian; Gonzalez-Ibarra, Fernando; Osuna-Ramírez, Ignacio; Murillo-Llanes, Joel

2017-01-01

Introduction: Cleft lip and palate, the most common developmental deformity, is seen worldwide and the etiology involves a combination of genetic and environmental factors. The purpose of this study was to determine the maternal risk factors associated with the development of cleft lip and cleft palate. Materials and Methods: We conducted a case control study at the Women’s Hospital in Culiacan, Mexico. Medical records were analyzed, including patients who delivered babies with and without cleft lip and cleft palate from January 2010 to December 2015. Multiple variables were analyzed, including gestational age, weight at birth, the use of folic acid and multivitamins during pregnancy, smoking, alcohol abuse, the use of recreational drugs, history of sexually transmitted infections, marital status, socioeconomic status, education, and nutritional status. Results: We found that the maternal risk factors with the strongest association for the development of cleft lip and cleft palate were the following: patients who were not taking folic acid during pregnancy [OR 3.27, 95% CI 1.32-8.09], P=0.00; patients who were not taking vitamin supplementation during pregnancy [OR 2.6, 95% CI 1.19-7.27], P=0.02; smoking during pregnancy [OR 2.05, 95% CI 1.23-3.41], P=0.01; and alcohol abuse during pregnancy [OR 1.90, 95% CI 1.17-3.08], P=0.03. Conclusions: The main risk factors associated with the development of cleft lip and cleft palate in a Mexican population at the Women’s hospital in Culiacan, Sinaloa, Mexico were smoking, alcohol abuse, and patients not taking folic acid and multivitamins during pregnancy. PMID:28819616

Delayed detection of cleft palate: an audit of newborn examination.

PubMed

Habel, A; Elhadi, N; Sommerlad, B; Powell, J

2006-03-01

To identify prevalence of delayed detection of cleft palate, and associated factors that could lead to improved identification at neonatal clinical examination. Audit of hospital notes, parental questionnaire incorporating open ended questions, and telephone questionnaire of junior doctors in the referring hospitals incorporating fixed choice questions. Of 344 cleft palate patients without cleft lip or submucous cleft palate, the day the cleft was detected was recorded in 92%. Delayed detection, after the first day, was 28% overall, distributed as 37% with isolated cleft palate and 23% with syndromic cleft palate. Narrow V shaped clefts were more likely to be delayed in detection compared with broad U shaped clefts, as were soft palate clefts compared with hard palate clefts. Five with isolated cleft palates were not detected until after the first year. Babies born at home were unlikely to be detected on day 1. Symptoms were significantly increased in the delayed detection group for feeding problems and nasal regurgitation. A telephone questionnaire of trainee paediatricians in referring units revealed that digital examination was more commonly practised than visual inspection, and few recalled receiving specific instruction on examination of the palate. Delayed detection of cleft palate was not uncommon, and the features of those more likely to be missed suggested digital examination was related. Trainee doctors and midwives should be instructed to inspect visually using a light and tongue depressor, then digitally if submucous cleft palate is suspected.

Spectrum of Dental Phenotypes in Nonsyndromic Orofacial Clefting.

PubMed

Howe, B J; Cooper, M E; Vieira, A R; Weinberg, S M; Resick, J M; Nidey, N L; Wehby, G L; Marazita, M L; Moreno Uribe, L M

2015-07-01

Children with oral clefts show a wide range of dental anomalies, adding complexity to understanding the phenotypic spectrum of orofacial clefting. The evidence is mixed, however, on whether the prevalence of dental anomalies is elevated in unaffected relatives and is mostly based on small samples. In the largest international cohort to date of children with nonsyndromic clefts, their relatives, and controls, this study characterizes the spectrum of cleft-related dental anomalies and evaluates whether families with clefting have a significantly higher risk for such anomalies compared with the general population. A total of 3,811 individuals were included: 660 cases with clefts, 1,922 unaffected relatives, and 1,229 controls. Dental anomalies were identified from in-person dental exams or intraoral photographs, and case-control differences were tested using χ(2) statistics. Cases had higher rates of dental anomalies in the maxillary arch than did controls for primary (21% vs. 4%, P = 3 × 10(-8)) and permanent dentitions (51% vs. 8%, P = 4 × 10(-62)) but not in the mandible. Dental anomalies were more prevalent in cleft lip with cleft palate than other cleft types. More anomalies were seen in the ipsilateral side of the cleft. Agenesis and tooth displacements were the most common dental anomalies found in case probands for primary and permanent dentitions. Compared with controls, unaffected siblings (10% vs. 2%, P = 0.003) and parents (13% vs. 7%, P = 0.001) showed a trend for increased anomalies of the maxillary permanent dentition. Yet, these differences were nonsignificant after multiple-testing correction, suggesting genetic heterogeneity in some families carrying susceptibility to both overt clefts and dental anomalies. Collectively, the findings suggest that most affected families do not have higher genetic risk for dental anomalies than the general population and that the higher prevalence of anomalies in cases is primarily a physical consequence of the

Ambulatory cleft lip surgery: A value analysis.

PubMed

Arneja, Jugpal S; Mitton, Craig

2013-01-01

Socialized health systems face fiscal constraints due to a limited supply of resources and few reliable ways to control patient demand. Some form of prioritization must occur as to what services to offer and which programs to fund. A data-driven approach to decision making that incorporates outcomes, including safety and quality, in the setting of fiscal prudence is required. A value model championed by Michael Porter encompasses these parameters, in which value is defined as outcomes divided by cost. To assess ambulatory cleft lip surgery from a quality and safety perspective, and to assess the costs associated with ambulatory cleft lip surgery in North America. Conclusions will be drawn as to how the overall value of cleft lip surgery may be enhanced. A value analysis of published articles related to ambulatory cleft lip repair over the past 30 years was performed to determine what percentage of patients would be candidates for ambulatory cleft lip repair from a quality and safety perspective. An economic model was constructed based on costs associated with the inpatient stay related to cleft lip repair. On analysis of the published reports in the literature, a minority (28%) of patients are currently discharged in an ambulatory fashion following cleft lip repair. Further analysis suggests that 88.9% of patients would be safe candidates for same-day discharge. From an economic perspective, the mean cost per patient for the overnight admission component of ambulatory cleft surgery to the health care system in the United States was USD$2,390 and $1,800 in Canada. The present analysis reviewed germane publications over a 30-year period, ultimately suggesting that ambulatory cleft lip surgery results in preservation of quality and safety metrics for most patients. The financial model illustrates a potential cost saving through the adoption of such a practice change. For appropriately selected patients, ambulatory cleft surgery enhances overall health care value.

Tail gut cyst.

PubMed

Rao, G Mallikarjuna; Haricharan, P; Ramanujacharyulu, S; Reddy, K Lakshmi

2002-01-01

The tail gut is a blind extension of the hindgut into the tail fold just distal to the cloacal membrane. Remnants of this structure may form tail gut cyst. We report a 14-year-old girl with tail gut cyst that presented as acute abdomen. The patient recovered after cyst excision.

The Evolution of Human Genetic Studies of Cleft Lip and Cleft Palate

PubMed Central

Marazita, Mary L.

2013-01-01

Orofacial clefts (OFCs)—primarily cleft lip and cleft palate—are among the most common birth defects in all populations worldwide, and have notable population, ethnicity, and gender differences in birth prevalence. Interest in these birth defects goes back centuries, as does formal scientific interest; scientists often used OFCs as examples or evidence during paradigm shifts in human genetics, and have also used virtually every new method of human genetic analysis to deepen our understanding of OFC. This review traces the evolution of human genetic investigations of OFC, highlights the specific insights gained about OFC through the years, and culminates in a review of recent key OFC genetic findings resulting from the powerful tools of the genomics era. Notably, OFC represents a major success for genome-wide approaches, and the field is poised for further breakthroughs in the near future. PMID:22703175

Ganglion Cysts

MedlinePlus

... Ganglion Cysts Find a hand surgeon near you. Videos Ganglion Cysts Close Popup Figures Figure 1 - Ganglion ... or "in." Also, avoid using media types like "video," "article," and "picture." Tip 4: Your results can ...

Economic Valuation of the Global Burden of Cleft Disease Averted by a Large Cleft Charity.

PubMed

Poenaru, Dan; Lin, Dan; Corlew, Scott

2016-05-01

This study attempts to quantify the burden of disease averted through the global surgical work of a large cleft charity, and estimate the economic impact of this effort over a 10-year period. Anonymized data of all primary cleft lip and cleft palate procedures in the Smile Train database were analyzed and disability-adjusted life years (DALYs) calculated using country-specific life expectancy tables, established disability weights, and estimated success of surgery and residual disability probabilities; multiple age weighting and discounting permutations were included. Averted DALYs were calculated and gross national income (GNI) per capita was then multiplied by averted DALYs to estimate economic gains. 548,147 primary cleft procedures were performed in 83 countries between 2001 and 2011. 547,769 records contained complete data available for the study; 58 % were cleft lip and 42 % cleft palate. Averted DALYs ranged between 1.46 and 4.95 M. The mean economic impact ranged between USD 5510 and 50,634 per person. This corresponded to a global economic impact of between USD 3.0B and 27.7B USD, depending on the DALY and GNI values used. The estimated cost of providing these procedures based on an average reimbursement rate was USD 197M (0.7-6.6 % of the estimated impact). The immense economic gain realized through procedures focused on a small proportion of the surgical burden of disease highlights the importance and cost-effectiveness of surgical treatment globally. This methodology can be applied to evaluate interventions for other conditions, and for evidence-based health care resource allocation.

Odontogenic cysts in three dogs: one odontogenic keratocyst and two dentigerous cysts.

PubMed

Watanabe, Kazuhiro; Kadosawa, Tsuyoshi; Ishiguro, Taketo; Takagi, Satoshi; Ochiai, Kenji; Kimura, Takashi; Okumura, Masahiro; Fujinaga, Toru

2004-09-01

Odontogenic cysts, which showed cystic radiolucency in the jaw bone by radiographic examination and computed tomography, were enucleated by operation in 3 dogs. One dog had a odontogenic keratocyst in the incisive bone of the right maxilla and another 2 cases revealed dentigerous cysts in the mandible. These cyst walls were enucleated or transpired by semiconductor laser. Afterwards, osteogenesis was confirmed at the defective part of jaw bone by extirpation of the cyst in all cases, and no recurrence has been noted in any cases. Odontogenic cyst is a disease which should be treated by surgical extirpation or transpiration.

Presurgical Unilateral Cleft Lip Anthropometrics and the Presence of Dental Anomalies.

PubMed

Antonarakis, Gregory S; Fisher, David M

2015-07-01

To investigate associations between cleft lip anthropometrics and dental anomalies in the permanent dentition in unilateral cleft lip patients. Retrospective cross-sectional study. Children with unilateral clefts of the lip, with or without cleft palate. Anthropometric lip measurements, made immediately prior to lip repair, were available for each patient. The presence of dental anomalies in the permanent dentition was assessed radiographically. The presence of associations between anthropometric lip measurements and prevalence rates of different dental anomalies were determined using logistic regression analyses. In the 122 included patients, the cleft lateral lip element was deficient in height in 80% and in transverse length in 84% of patients. Patients with more deficient cleft side lateral lip height and less deficient cleft side lateral lip transverse length were more likely to present with cleft side maxillary lateral incisor agenesis. On the other hand, patients with a less deficient cleft side lateral lip height and more deficient cleft side lateral lip transverse length were more likely to present with a cleft side supernumerary maxillary lateral incisor. When looking only at incomplete clefts, the cleft side lateral lip transverse length deficiency was more predictive of the presence of supernumerary maxillary lateral incisors (P = .030), while for complete clefts, the cleft side lateral lip height deficiency was more predictive of the presence of maxillary lateral incisor agenesis (P = .035). In patients with unilateral clefts, cleft lip anthropometrics have a predictive role in determining the occurrence of dental anomalies.

A histochemical study of the distribution of lectin binding sites in the developing branchial area of the trout Salmo trutta.

PubMed Central

Rojo, M C; Blánquez, M J; González, M E

1996-01-01

A histochemical study of the branchial area of brown trout embryos from 35 to 71 d of incubation is reported. A battery of 6 different horseradish peroxidase-labelled lectins, the PAS reaction and Alcian blue staining were used to study the distribution of carbohydrate residues in glycoconjugates along the pharyngeal and branchial epithelia. Con A and WGA reacted at every site of the branchial region thus showing the ubiquitous presence of alpha-D-mannose and N-acetyl-D-glucosamine. WGA, DBA and SBA were good markers for the hatching gland cells (HGCs) and mucous cells. Other lectins, such as PNA and UEA I, reacted only for a short time at some sites during the considered period of incubation. From 35 d until posthatching stages, a manifest strong reaction was noted both in the dorsal epithelium of branchial arches and the HGCs as shown by SBA reactivity. This may be significant with regard to the controversial origin of HGCs, which is thought to be endodermal. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 PMID:8982837

Cleft Lip – A Comprehensive Review

PubMed Central

Shkoukani, Mahdi A.; Chen, Michael; Vong, Angela

2013-01-01

Orofacial clefts comprise a range of congenital deformities and are the most common head and neck congenital malformation. Clefting has significant psychological and socio- economic effects on patient quality of life and require a multidisciplinary team approach for management. The complex interplay between genetic and environmental factors play a significant role in the incidence and cause of clefting. In this review, the embryology, classification, epidemiology, and etiology of cleft lip are discussed. The primary goals of surgical repair are to restore normal function, speech development, and facial esthetics. Different techniques are employed based on surgeon expertise and the unique patient presentations. Pre-surgical orthopedics are frequently employed prior to definitive repair to improve outcomes. Long term follow up and quality of life studies are discussed. PMID:24400297

Baker cyst

MedlinePlus

Popliteal cyst; Bulge-knee ... Baker cyst is caused by swelling in the knee. The swelling is due to an increase in the fluid that lubricates the knee joint (synovial fluid). When pressure builds up, fluid ...

Effects of Nasoalveolar Molding Therapy on Alveolar and Palatal Cleft Deformities in Unilateral and Bilateral Cleft Lip and Palate.

PubMed

Isik Aslan, Belma; Gülşen, Ayşe; Findikçioğlu, Kemal; Uzuner, Deniz; Üçüncü, Neslihan

2018-03-01

The purpose of this study was to evaluate and compare the efficacy of nasoalveolar molding (NAM) therapy in the improvement of alveolar and palatal cleft deformity on unilateral (UCLP) versus bilateral (BCLP) cleft lip and palate. A total of 19 UCLP (14 boys and 5 girls) and 8 BCLP (7 boys and 1 girl) infants completed NAM therapy were included in this study. Standardized parameters of cleft width of alveol and palate were measured on photocopies taken from the pre- and post-treatment plaster casts. To assess the intragroup differences, paired-samples test in UCLP and Wilcoxon test in BCLP groups were used. Mann-Whitney U test was used to evaluate the differences between the groups. Significant decreases in alveolar and palatal cleft gaps were achieved in an average period of 3.3 ± 1.9 and 3.7 ± 1.6 months in UCLP and BCLP patients, respectively. The alveolar cleft decreased 7.85 ± 4.59 mm in UCLP and 4.25 ± 3.13 and 3.81 ± 3.50 mm in right and left alveolar cleft sides in BCLP, respectively. The palatal clefts were decreased 4.63 ± 2.44 mm in medial and 3.72 ± 2.62 mm in posterior parts in UCLP. The decrements in BCLP were 3.00 ± 2.75 mm in medial and 2.88 ± 2.75 mm in posterior palatal cleft distances. No significant differences were determined in the amount of alveolar or palatal cleft closure between UCLP and BCLP groups. The only decrease in arch width was 1.39 mm in medial part of palate in UCLP. The NAM device provides significant decreases in both alveolar and palatal cleft deformities in UCLP and BCLP infants, as compared with their birth status.

Evidence-based medicine: cleft palate.

PubMed

Chepla, Kyle J; Gosain, Arun K

2013-12-01

After reading this article, the participant should be able to: 1. Describe recent changes in treatment of cleft palate. 2. Compare the efficacy of different surgical treatments. 3. Assess their own knowledge of cleft palate repair. 4. Determine where further individual in-depth study and development are warranted. The Maintenance of Certification in Plastic Surgery series is designed to ensure professional development and measure continued competency within a specialty or subspecialty. The present article provides an evaluation of the interval studies regarding the management of cleft palate with a specific focus on craniofacial growth, speech outcomes, and obstructive sleep apnea since the last Maintenance of Certification in Plastic Surgery article on the subject published in 2010. This purpose of this article is to update plastic and craniomaxillofacial surgeons on recent changes in treatment of cleft palate, provide a means for accurate self-assessment, and guide further individual in-depth study and development.

Nonsurgical root canal therapy of large cyst-like inflammatory periapical lesions and inflammatory apical cysts.

PubMed

Lin, Louis M; Ricucci, Domenico; Lin, Jarshen; Rosenberg, Paul A

2009-05-01

It is a general belief that large cyst-like periapical lesions and apical true cysts caused by root canal infection are less likely to heal after nonsurgical root canal therapy. Nevertheless, there is no direct evidence to support this assumption. A large cyst-like periapical lesion or an apical true cyst is formed within an area of apical periodontitis and cannot form by itself. Therefore, both large cyst-like periapical lesions and apical true cysts are of inflammatory and not of neoplastic origin. Apical periodontitis lesions, regardless of whether they are granulomas, abscesses, or cysts, fail to heal after nonsurgical root canal therapy for the same reason, intraradicular and/or extraradicular infection. If the microbial etiology of large cyst-like periapical lesions and inflammatory apical true cysts in the root canal is removed by nonsurgical root canal therapy, the lesions might regress by the mechanism of apoptosis in a manner similar to the resolution of inflammatory apical pocket cysts. To achieve satisfactory periapical wound healing, surgical removal of an apical true cyst must include elimination of root canal infection.

Thoracic arachnoid cyst resection.

PubMed

Deutsch, Harel

2014-09-01

Arachnoid cysts in the spinal cord may be asymptomatic. In some cases arachnoid cysts may exert mass effect on the thoracic spinal cord and lead to pain and myelopathy symptoms. Arachnoid cysts may be difficult to visualize on an MRI scan because the thin walled arachnoid may not be visible. Focal displacement of the thoracic spinal cord and effacement of the spinal cord with apparent widening of the cerebrospinal fluid space is seen. This video demonstrates surgical techniques to remove a dorsal arachnoid cyst causing spinal cord compression. The surgery involves a thoracic laminectomy. The dura is opened sharply with care taken not to open the arachnoid so that the cyst can be well visualized. The thickened arachnoid walls of the cyst are removed to alleviate the compression caused by the arachnoid cyst. The video can be found here: http://youtu.be/pgUrl9xvsD0.

Keratinizing dentigerous cyst

PubMed Central

Sivasankar, Vaishnavi; Ranganathan, Kannan; Praveen, B

2014-01-01

Keratinizing dentigerous cyst is a rare entity. This article reports a case of keratinizing dentigerous cyst associated with an impacted mandibular canine. Clinical and radiological features, cone-beam computed tomography findings and histological features of the case are reported along with a discussion on keratinizing odontogenic cysts and the need for follow-up. PMID:24808713

Proteomic Study of Entamoeba histolytica Trophozoites, Cysts, and Cyst-Like Structures

PubMed Central

Luna-Nácar, Milka; Navarrete-Perea, José; Moguel, Bárbara; Bobes, Raúl J.; Laclette, Juan P.; Carrero, Julio C.

2016-01-01

The cyst stage of Entamoeba histolytica is a promising therapeutic target against human amoebiasis. Our research team previously reported the production in vitro of Cyst-Like Structures (CLS) sharing structural features with cysts, including rounded shape, size reduction, multinucleation, and the formation of a chitin wall coupled to the overexpression of glucosamine 6-phosphate isomerase, the rate-limiting enzyme of the chitin synthesis pathway. A proteomic study of E. histolytica trophozoites, cysts, and in vitro-produced CLS is reported herein to determine the nature of CLS, widen our knowledge on the cyst stage, and identify possible proteins and pathways involved in the encystment process. Total protein extracts were obtained from E. histolytica trophozoites, CLS, and partially purified cysts recovered from the feces of amoebic human patients; extracts were trypsin-digested and analyzed by LC-MS/MS. In total, 1029 proteins were identified in trophozoites, 550 in CLS, and 411 in cysts, with 539, 299, and 84 proteins unique to each sample, respectively, and only 74 proteins shared by all three stages. About 70% of CLS proteins were shared with trophozoites, even though differences were observed in the relative protein abundance. While trophozoites showed a greater abundance of proteins associated to a metabolically active cell, CLS showed higher expression of proteins related to proteolysis, redox homeostasis, and stress response. In addition, the expression of genes encoding for the cyst wall proteins Jessie and Jacob was detected by RT-PCR and the Jacob protein identified by Western blotting and immunofluorescence in CLS. However, the proteomic profile of cysts as determined by LC-MS/MS was very dissimilar to that of trophozoites and CLS, with almost 40% of hypothetical proteins. Our global results suggest that CLS are more alike to trophozoites than to cysts, and they could be generated as a rapid survival response of trophozoites to a stressful condition

Acute effects of temperature and hypercarbia on cutaneous and branchial gas exchange in the South American lungfish, Lepidosiren paradoxa.

PubMed

Zena, Lucas A; Bícego, Kênia C; da Silva, Glauber S F; Giusti, Humberto; Glass, Mogens L; Sanchez, Adriana P

2017-01-01

The South American lungfish, Lepidosiren paradoxa inhabits seasonal environments in the Central Amazon and Paraná-Paraguay basins that undergo significant oscillations in temperature throughout the year. They rely on different gas exchange organs, such as gills and skin for aquatic gas exchange while their truly bilateral lungs are responsible for aerial gas exchange; however, there are no data available on the individual contributions of the skin and the gills to total aquatic gas exchange in L. paradoxa. Thus, in the present study we quantify the relative contributions of skin and gills on total aquatic gas exchange during warm (35°C) and cold exposure (20°C) in addition to the effects of aerial and aquatic hypercarbia on aquatic gas exchange and gill ventilation rate (f G ; 25°C), respectively. Elevated temperature (35°C) caused a significant increase in the contribution of cutaneous (from 0.61±0.13 to 1.34±0.26ml. STPD.h -1 kg -1 ) and branchial (from 0.54±0.17 to 1.73±0.53ml. STPD.h -1 kg -1 ) gas exchange for V̇CO 2 relative to the lower temperature (20°C), while V̇O 2 remained relatively unchanged. L. paradoxa exhibited a greater branchial contribution in relation to total aquatic gas exchange at lower temperatures (20 and 25°C) for oxygen uptake. Aerial hypercarbia decreased branchial V̇O 2 whereas branchial V̇CO 2 was significantly increased. Progressive increases in aquatic hypercarbia did not affect f G . This response is in contrast to increases in pulmonary ventilation that may offset any increase in arterial partial pressure of CO 2 owing to CO 2 loading through the animals' branchial surface. Thus, despite their reduced contribution to total gas exchange, cutaneous and branchial gas exchange in L. paradoxa can be significantly affected by temperature and aerial hypercarbia. Copyright © 2016 Elsevier Ltd. All rights reserved.

The Cleft Aesthetic Rating Scale for 18-Year-Old Unilateral Cleft Lip and Palate Patients: A Tool for Nasolabial Aesthetics Assessment.

PubMed

Mulder, F J; Mosmuller, D G M; de Vet, H C W; Mouës, C M; Breugem, C C; van der Molen, A B Mink; Don Griot, J P W

2018-01-01

Objective To develop a reliable and easy-to-use method to assess the nasolabial appearance of 18-year-old patients with unilateral cleft lip and palate (CLP). Design Retrospective analysis of nasolabial aesthetics using a 5-point ordinal scale and newly developed photographic reference scale: the Cleft Aesthetic Rating Scale (CARS). Three cleft surgeons and 20 medical students scored the nasolabial appearance on standardized frontal photographs. Setting VU University Medical Center, Amsterdam. Patients Inclusion criteria: 18-year-old patients, unilateral cleft lip and palate, available photograph of the frontal view. history of facial trauma, congenital syndromes affecting facial appearance. Eighty photographs were available for scoring. Main Outcome Measures The interobserver and intraobserver reliability of the CARS for 18-year-old patients when used by cleft surgeons and medical students. Results The interobserver reliability for the nose and lip together was 0.64 for the cleft surgeons and 0.61 for the medical students. There was an intraobserver reliability of 0.75 and 0.78 from the surgeons and students, respectively, on the nose and lip together. No significant difference was found between the cleft surgeons and medical students in the way they scored the nose ( P = 0.22) and lip ( P = 0.72). Conclusions The Cleft Aesthetic Rating Scale for 18-year-old patients has a substantial overall estimated reliability when the average score is taken from three or more cleft surgeons or medical students assessing the nasolabial aesthetics of CLP patients.

Submental epidermoid cysts in children.

PubMed

Zielinski, Rafal; Zakrzewska, Anna

2015-01-01

Epidermoid cysts are lesions, which form as a result of implantation of the epidermis in the layers of the dermis or the mucous membrane. The lesions are rare in adults with 7% occurring in the head and neck area and most often located in the submental region. In children population submental epidermoid cysts are extremely rare. The differential diagnosis of the lesions is necessary as it affects the choice of treatment methods. Among the pathological conditions occurring in that region, salivary retention cyst (ranula), thyroglossal duct cyst, vascular lymphatic malformation (cystic hygroma), median neck cyst, lymphadenopathy, thyroid gland tumor, laryngeal cyst, epidermoid and dermoid cysts, submental abscess, sialolithiasis and salivary gland inflammation should be considered. The authors of the present report demonstrate two cases of submental epidermoid cysts in children. Differential diagnosis in case of suspected submental epidermoid cyst in a child with proposed clinical practice and literature review is provided.

Renal Cysts

MedlinePlus

... inside the renal cysts. Your doctor may use ultrasound imaging to monitor renal cysts for any changes over ... Related Articles and Media Ultrasound - Abdomen Children's (Pediatric) Ultrasound - Abdomen Magnetic Resonance Imaging (MRI) - Body Ultrasound - Pelvis Children's (Pediatric) Nuclear Medicine ...

Vaginal cysts

MedlinePlus

... essential to determine what type of cyst or mass you may have. A mass or bulge of the vaginal wall may be ... to rule out vaginal cancer, especially if the mass appears to be solid. If the cyst is ...

Preservation of protein clefts in comparative models.

PubMed

Piedra, David; Lois, Sergi; de la Cruz, Xavier

2008-01-16

Comparative, or homology, modelling of protein structures is the most widely used prediction method when the target protein has homologues of known structure. Given that the quality of a model may vary greatly, several studies have been devoted to identifying the factors that influence modelling results. These studies usually consider the protein as a whole, and only a few provide a separate discussion of the behaviour of biologically relevant features of the protein. Given the value of the latter for many applications, here we extended previous work by analysing the preservation of native protein clefts in homology models. We chose to examine clefts because of their role in protein function/structure, as they are usually the locus of protein-protein interactions, host the enzymes' active site, or, in the case of protein domains, can also be the locus of domain-domain interactions that lead to the structure of the whole protein. We studied how the largest cleft of a protein varies in comparative models. To this end, we analysed a set of 53507 homology models that cover the whole sequence identity range, with a special emphasis on medium and low similarities. More precisely we examined how cleft quality - measured using six complementary parameters related to both global shape and local atomic environment, depends on the sequence identity between target and template proteins. In addition to this general analysis, we also explored the impact of a number of factors on cleft quality, and found that the relationship between quality and sequence identity varies depending on cleft rank amongst the set of protein clefts (when ordered according to size), and number of aligned residues. We have examined cleft quality in homology models at a range of seq.id. levels. Our results provide a detailed view of how quality is affected by distinct parameters and thus may help the user of comparative modelling to determine the final quality and applicability of his/her cleft models

Incidence of facial clefts in Cambridge, United Kingdom.

PubMed

Bister, Dirk; Set, Patricia; Cash, Charlotte; Coleman, Nicholas; Fanshawe, Thomas

2011-08-01

The aim of this study was to determine the incidence of facial clefting in Cambridge, UK, using multiple resources of ascertainment and to relate the findings to antenatal ultrasound screening (AUS) detection rates. AUS records from an obstetric ultrasound department, post-natal records from the regional craniofacial unit, and autopsy reports of foetuses over 16 weeks' gestational age from a regional pathology department from 1993 to 1997 were retrospectively reviewed. Cross-referencing between the three data sets identified all cases of facial clefts. Of 23,577 live and stillbirths, 30 had facial clefts. AUS detected 17 of these. Sixteen of the 30 had isolated facial clefts. Others had associated anomalies, chromosomal defects, or syndromes. Percentages and confidence intervals were calculated from the above data. Twenty-one resulted in live births, seven terminations, and two foetal deaths. Overall, detection rate by AUS was 65 percent [67 percent isolated cleft lip, 93 per cent cleft lip and palate (CLP), and 22 percent isolated cleft palate], with no false positives. The incidence of facial clefts was 0.127 percent (95 percent confidence interval 0.089-0.182 percent); the incidence for isolated CLP was lower than previously reported: 0.067 percent (0.042-0.110 percent). With one exception, all terminations were in foetuses with multiple anomalies. The figures presented will enable joint CLP clinics to give parents information of termination rates. The study allows pre-pregnancy counselling of families previously affected by clefting about the reliability of AUS detection rates.

Submental epidermoid cysts in children

PubMed Central

Zakrzewska, Anna

2015-01-01

Epidermoid cysts are lesions, which form as a result of implantation of the epidermis in the layers of the dermis or the mucous membrane. The lesions are rare in adults with 7% occurring in the head and neck area and most often located in the submental region. In children population submental epidermoid cysts are extremely rare. The differential diagnosis of the lesions is necessary as it affects the choice of treatment methods. Among the pathological conditions occurring in that region, salivary retention cyst (ranula), thyroglossal duct cyst, vascular lymphatic malformation (cystic hygroma), median neck cyst, lymphadenopathy, thyroid gland tumor, laryngeal cyst, epidermoid and dermoid cysts, submental abscess, sialolithiasis and salivary gland inflammation should be considered. The authors of the present report demonstrate two cases of submental epidermoid cysts in children. Differential diagnosis in case of suspected submental epidermoid cyst in a child with proposed clinical practice and literature review is provided. PMID:28352681

Understanding Cleft and Craniofacial Team Care

MedlinePlus

... Donor Spotlight Fundraising Ideas Vehicle Donation Volunteer Efforts Cleft Lip/Palate & Craniofacial Specialists in Your Area skip to submenu Who We Are What We Do Cleft Lip/Palate & Craniofacial Specialists in Your Area States: A States: ...

Dental Care for a Child with Cleft Lip and Palate

MedlinePlus

... Volunteer Efforts Dental Care for a Child with Cleft Lip and Palate skip to submenu What We Do Cleft & Craniofacial ... version of this factsheet, click here How does cleft lip/palate affect the teeth? A cleft of the lip, ...

Cleft palate caused by congenital teratoma.

PubMed

Veyssière, Alexis; Streit, Libor; Traoré, Hamady; Bénateau, Hervé

2017-02-01

A cleft palate results from incomplete fusion of the lateral palatine processes, the median nasal septum and the median palatine process. This case report describes a rare case of congenital teratoma originating from the nasal septum that may have interfered with the fusion of the palatal shelves during embryonic development, resulting in a cleft palate. An infant girl was born at 40 weeks of gestation weighing 3020 g with a complete cleft palate associated with a large central nasopharyngeal tumour. Computed tomography (CT) of the head showed a well defined mass of mixed density. The tumour was attached to the nasal septum in direct contact with the cleft palate. A biopsy confirmed the teratoma. Tumour resection was performed at 5 months, soft palate reconstruction at 7 months and hard palate closure at 14 months. There was no sign of local recurrence 1 year later. Most teratomas are benign and the prognosis is usually good. However, recurrence is not rare if germ cell carcinomatous foci are present within the teratoma. For these reasons, we advocate the use of a two-stage procedure in which closure of the cleft palate is postponed until histological examination confirms complete excision of the teratoma.

Surgery for pilonidal cyst

MedlinePlus

Pilonidal abscess; Pilonidal dimple; Pilonidal disease; Pilonidal cyst; Pilonidal sinus ... An infected pilonidal cyst or abscess requires surgical drainage. It will not heal with antibiotic medicines. If you continue to have infections, the pilonidal cyst can be ...

Development of oral and branchial muscles in lancelet larvae of Branchiostoma japonicum.

PubMed

Yasui, Kinya; Kaji, Takao; Morov, Arseniy R; Yonemura, Shigenobu

2014-04-01

The perforated pharynx has generally been regarded as a shared characteristic of chordates. However, there still remains phylogenetic ambiguity between the cilia-driven system in invertebrate chordates and the muscle-driven system in vertebrates. Giant larvae of the genus Asymmetron were reported to develop an orobranchial musculature similar to that of vertebrates more than 100 years ago. This discovery might represent an evolutionary link for the chordate branchial system, but few investigations of the lancelet orobranchial musculature have been completed since. We studied staged larvae of a Japanese population of Branchiostoma japonicum to characterize the developmental property of the orobranchial musculature. The larval mouth and the unpaired primary gills develop well-organized muscles. These muscles function only as obturators of the openings without antagonistic system. As the larval mouth enlarged posteriorly to the level of the ninth myomere, the oral musculature was fortified accordingly without segmental patterning. In contrast, the iterated branchial muscles coincided with the dorsal myomeric pattern before metamorphosis, but the pharynx was remodeled dynamically irrespective of the myomeric pattern during metamorphosis. The orobranchial musculature disappeared completely during metamorphosis, and adult muscles in the oral hood and velum, as well as on the pterygial coeloms developed independently. The lancelet orobranchial musculature is apparently a larval adaptation to prevent harmful intake. However, vestigial muscles appeared transiently with the secondary gill formation suggest a bilateral ancestral state of muscular gills, and a segmental pattern of developing branchial muscles without neural crest and placodal contributions is suggestive of a precursor of vertebrate branchiomeric pattern. Copyright © 2013 Wiley Periodicals, Inc.

Variation in branchial expression among insulin-like growth-factor binding proteins (igfbps) during Atlantic salmon smoltification and seawater exposure.

PubMed

Breves, Jason P; Fujimoto, Chelsea K; Phipps-Costin, Silas K; Einarsdottir, Ingibjörg E; Björnsson, Björn Thrandur; McCormick, Stephen D

2017-01-18

In preparation for migration from freshwater to marine habitats, Atlantic salmon (Salmo salar L.) undergo smoltification, a transformation that includes the acquisition of hyposmoregulatory capacity. The growth hormone (Gh)/insulin-like growth-factor (Igf) axis promotes the development of branchial ionoregulatory functions that underlie ion secretion. Igfs interact with a suite of Igf binding proteins (Igfbps) that modulate hormone activity. In Atlantic salmon smolts, igfbp4,-5a,-5b1,-5b2,-6b1 and-6b2 transcripts are highly expressed in gill. We measured mRNA levels of branchial and hepatic igfbps during smoltification (March, April, and May), desmoltification (July) and following seawater (SW) exposure in March and May. We also characterized parallel changes in a broad suite of osmoregulatory (branchial Na + /K + -ATPase (Nka) activity, Na + /K + /2Cl - cotransporter 1 (nkcc1) and cystic fibrosis transmembrane regulator 1 (cftr1) transcription) and endocrine (plasma Gh and Igf1) parameters. Indicative of smoltification, we observed increased branchial Nka activity, nkcc1 and cftr1 transcription in May. Branchial igfbp6b1 and -6b2 expression increased coincidentally with smoltification. Following a SW challenge in March, igfbp6b1 showed increased expression while igfbp6b2 exhibited diminished expression. igfbp5a,-5b1 and-5b2 mRNA levels did not change during smolting, but each had lower levels following a SW exposure in March. Salmonids express an especially large suite of igfbps. Our data suggest that dynamic expression of particular igfbps accompanies smoltification and SW challenges; thus, transcriptional control of igfbps may provide a mechanism for the local modulation of Igf activity in salmon gill.

The Epidemiology of Cleft Lip and Palate in Canada, 1998 to 2007.

PubMed

Matthews, Jennifer L K; Oddone-Paolucci, Elizabeth; Harrop, Robertston A

2015-07-01

To examine the birth prevalence, gender distribution, and pattern of surgical intervention for clefts in Canada (1998 to 2007). Also to highlight the difficulties associated with studying the epidemiology of clefts using the current data collection mechanisms. Epidemiologic data acquired from the Canadian Institute for Health Information. Population-based study in Canada 1998 to 2007. All live births with an International Classification of Diseases (9th or 10th revision) diagnostic code for cleft palate or for cleft lip with or without cleft palate or with a surgical intervention code for repair of cleft lip or cleft palate. Birth prevalence, gender distribution, and pattern of surgical intervention. There were 3,015,325 live births in Canada (1998 to 2007). The mean birth prevalence was 0.82 per 1000 live births for cleft lip with or without cleft palate and 0.58 per 1000 live births for cleft palate. The birth prevalence of cleft lip with or without cleft palate was significantly higher in boys, with a stable boy to girl ratio of 1.75:1. Cleft palate was significantly greater in girls; however, the boy to girl ratio decreased from 0.97:1 in 1998 to 0.59:1 in 2007. The median age of repair in Canada from 1998 to 2007 was 4.7 months for cleft lip and 11.6 months for cleft palate. Thirty percent of patients underwent cleft palate repair after age 1. The birth prevalence of cleft palate and cleft lip with or without cleft palate is stable in Canada. An increasing birth prevalence of cleft palate in girls is suggested. The timing of surgical intervention is consistent with current standards. The challenges associated with collecting these data in Canada are discussed.

Cleft lip with or without cleft palate and dermatoglyphic asymmetry: evaluation of a Chinese population.

PubMed

Neiswanger, K; Cooper, M E; Weinberg, S M; Flodman, P; Keglovits, A Bundens; Liu, Y; Hu, D N; Melnick, M; Spence, M A; Marazita, M L

2002-08-01

To determine if Chinese individuals with non syndromic cleft lip with or without cleft palate (CL/P) display more dermatoglyphic asymmetry than unaffected relatives or controls. Case-control study with two control groups (genetically related and unrelated). A total of 500 CL/P probands from Shanghai, China, 421 unaffected relatives, and 66 controls of Chinese heritage. Finger and palm prints were collected, and pattern frequencies, total ridge counts (TRC), and atd angles were calculated. Asymmetry scores between right and left hands were defined for each of the three dermatoglyphic measures. Probands' asymmetry scores were compared statistically with the scores of unaffected relatives and controls. In general, the probands' asymmetry scores for TRC and atd angle did not differ significantly from the scores of either unaffected relatives or controls. However, probands with a positive family history of clefting showed significantly more asymmetry in their pattern types than either probands without a family history, unaffected relatives or controls. These results suggest that a unique genetic mechanism of developmental instability may obtain in CL/P individuals with a positive family history of clefting.

Neurenteric Cyst or Neuroendodermal Cyst? Immunohistochemical Study and Pathogenesis.

PubMed

Chen, Chun-Ting; Lai, Hung-Yi; Jung, Shih-Ming; Lee, Ching-Yi; Wu, Chieh-Tsai; Lee, Shih-Tseng

2016-12-01

Neurenteric cysts are rare central nervous system lesions derived from an endodermal origin. There is no consensus concerning pathogenesis because of the paucity of occurrences. We report an immunohistochemical study of 10 cases with neurenteric cysts and postulate its pathogenesis. Ten patients underwent surgical treatment for neurenteric cysts from 1995 to 2015. We retrospectively reviewed clinical, radiologic, operative, and pathologic findings for these patients. Immunohistochemical stains were completed in all cases to distinguish cell type and origin. Three cell types were identified: pseudostratified-ciliated, goblet-columnar, and simple cuboidal cells. All cases were positive for cytokeratin 7, and negative for cytokeratin 20, caudal-type homeobox 2, mucin 2, thyroid transcription factor 1, human chorionic gonadotropin, placental alkaline phosphatase, and cluster of differentiation 31. Four of them had positive staining for mucin 5AC, with expression only in goblet-columnar cells. According to the immunohistochemical results, the cells resembled the respiratory tract (pseudostratified-ciliated), stomach (goblet-columnar), and respiratory bronchioles (simple cuboidal). Seventy-five percent of cases with recurrence had a goblet-columnar component, emphasizing the importance of total resection of the cyst and complete pathologic examination. We postulate that the cystic tumor was derived from multipotent endodermal cells that migrated and traveled along the neuroectoderm, with incomplete differentiation into various cell types as a result of an unsuitable microenvironment. Because the neurenteric canal was only the channel of migration rather than a component of the cysts, the term neuroendodermal cysts is more precise in presenting the embryopathogenesis. Copyright © 2016 The Author(s). Published by Elsevier Inc. All rights reserved.

Psychosocial acceptance of cleft patients: has something changed?

PubMed

Pausch, Niels Christian; Winter, Karsten; Halama, Dirk; Wirtz, Christian; Yildirim, Vedat; Sirintawat, Nattapong; Nattapong, Sirintawat

2016-03-01

The main purpose of this study was to analyse the reactions of a panel (non-cleft adults) when observing cleft lip morphology. Although rehabilitation of cleft lip and palate is improving, there are still indications of social rejection of cleft patients by the people around them. Polarity profiles have been used since 1973 to measure social distance with regard to cleft patients. Because rehabilitation results and education of the society have improved in recent decades, we investigated whether social distance has been affected. The setting of this study is the Department of Oral, Craniomaxillofacial, and Facial Plastic Surgery, University Hospital of Leipzig, Germany Using a cross-sectional study design, we enrolled a sample of adult laypersons (n = 273). For the survey, we followed the concept of photograph presentation and questionnaire investigation reported by Sergl and Schmid (1973). We presented anonymised frontal and profile pictures of the faces of 50 cleft patients and asked the laypersons to specify social distance. Three predictor variables (layperson gender, profession and year of evaluation) were grouped. Although social distance has reduced during the last 40 years, life situations which require emotional proximity still cause some concern. Professional background and gender affect laypersons' attitudes. Although rehabilitation of cleft lip and palate is much better than 40 years ago, social distance remains a problem in society. It is necessary to improve both results of rehabilitation of cleft patients and social acceptance by the people around them.

[Surgical treatment of perinatal ovarian cysts].

PubMed

Armas Alvarez, A L; Taboada Santomil, P; Pradillos Serna, J M; Rivera Chavez, L L; Méndez Gallart, R; Estévez Martínez, E; Rodríguez Barca, P; Bautista Casasnovas, A; Varela Cives, R

2010-10-01

Actually, the perinatal ovarian cysts are increasingly being diagnosed by prenatal and neonatal ultrasound. We reported our experience in the surgical management of perinatal ovarian cysts. Patients and methods. We have reviewed the clinical charts of 10 female newborns diagnosed of ovarian cysts who underwent surgical management in our hospital from 1989 to 2009. The ovarian cysts were diagnosed antenatally in 8 cases and period neonatal in 2 cases. The clinical presentation was asymptomatic abdominal mass in 7 cases. Ultrasound confirmed the ovarian mass in 8 patients. CT scan and MRI were necessary for confirm suspected diagnosis in two patients. Ultrasonography showed 7 complex cysts and 3 simple cysts. Surgery of the complicated cysts revealed ovarian torsion in 5 cases and 1 hemorragic cyst. At surgery, 5 patients underwent salpingooophorectomy, 2 patients needed oophorectomy and in 3 cases only cystectomy were necessary. The ovarian torsion is the most common complication and the cause of loss of the ovary. The neonatal ovarian cysts greater than 5 centimetres, symptomatic cysts, complex cysts and cysts persisting for more than 6 months need surgical intervention.

Assessing Angle's malocclusion among cleft lip and/or palate patients in Jammu.

PubMed

Gupta, Akshay; Gupta, Anur; Bhardwaj, Amit; Vikram, S; Gomathi, Ajeetha; Singh, Karanprakash

2016-04-01

The study was conducted to examine the patients with abnormalities of cleft lip and/or palate and its association with different types of malocclusion. This descriptive study was done among 168 patients with abnormalities of cleft lip and/or palate. Angle's classification of malocclusion was applied for assessment of occlusion as Class I, Class II, and Class III. The types of oral clefts classification such as cleft lip unilateral and cleft lip bilateral, cleft palate (CP), unilateral cleft lip with palate (UCLP) and bilateral cleft lip with palate (BCLP) was considered. Chi-square test was applied to analyze the data at P < 0.05. The study showed different categories of clefts patients as cleft lip (81), CP (31), and both cleft lip and palate (53). The occurrence of unilateral cleft lip (44) was maximum among the sample followed by UCLP (39), and bilateral cleft lip (31). Maximum subjects with Class II (10.7%) and Class III (4.9%) malocclusion were seen with unilateral cleft lip deformities. None of the patients with UCLP had Class III malocclusion. Cleft lip was the most commonly observed deformity and high frequency of Class II and III malocclusion was evident. Therefore, patients with such abnormalities should be screened timely.

Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome.

PubMed

Dhar, Reema Sharma; Bora, Amitava

2014-01-01

Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in a single individual is extremely rare. We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features. Clinical features, diagnosis and role of a dentist in the multidisciplinary treatment approach have been elaborated in this case report.

Predictors of complication for alveolar cleft bone graft.

PubMed

Borba, Alexandre Meireles; Borges, Alvaro Henrique; da Silva, Carolina Silvano Vilarinho; Brozoski, Mariana Aparecida; Naclério-Homem, Maria da Graça; Miloro, Michael

2014-02-01

We have analysed the predictors of postoperative complications and the need for reoperation after grafting of the alveolar cleft from one specialised cleft centre. The data were obtained from hospital casenotes of patients operated on from December 2004 to April 2010, with a minimum one-year follow-up from the final operation. Independent variables included postoperative complications and the need for reoperation. Conditional variables were sex, age, type of cleft, sides affected, donor area, type of graft material, and the presence of an erupted tooth in contact with the cleft. A total of 71 patients had bone grafted on to the alveolar cleft. The following associations were found to be significant: postoperative complications and need for reoperation (p=0.003); age and complications (p=0.002); affected side and complications (p=0.006); age and reoperation (p=0.000); sex and reoperation (p=0.001); and type of cleft and reoperation (p=0.001). Proper attention should be given to all the variables and risk factors to overcome the many obstacles that might have an adverse influence on a successful outcome of alveolar bone grafting for patients with clefts. Copyright © 2013 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

A cross-sectional analysis of the prevalence of tooth agenesis and structural dental anomalies in association with cleft type in non-syndromic oral cleft patients.

PubMed

Konstantonis, Dimitrios; Alexandropoulos, Alexandros; Konstantoni, Nikoleta; Nassika, Maria

2017-12-01

The aim of this study was to investigate the prevalence of tooth agenesis, microdontia, and tooth malformation among non-syndromic oral cleft patients and their potential association with cleft type and gender. Intraoral records and radiographs of 154 patients (97 males and 57 females) were examined. The variables assessed were tooth agenesis, microdontia, dental malformations, and cleft types. The statistics included chi-square and Fisher's exact tests as well as logistic regression to assess any mutual effects of gender and cleft type on the dental variables. Tooth agenesis occurred in 50% of the sample and microdontia in 18%. Non-statistically significant odds ratios for the association of gender and cleft type with tooth agenesis were obtained. Tooth agenesis was substantially higher at the unilateral right CL + P and the bilateral CL + P in quadrant 1 and at the unilateral left CL + P and bilateral CL + P in quadrant 2. It was also higher, at the isolated cleft palate (CP) in quadrants 3 and 4. These results were attributed to teeth 22 (31.8%) and 12 (21.6%) in the maxilla and to teeth 35 (6.1%) and 45 (5.4%) in the mandible. In unilateral CL + P patients, the cleft quadrant that presented tooth agenesis was associated with the side of the cleft. Interdisciplinary treatment of the oral cleft patients should take into consideration the high prevalence of tooth agenesis and their association with the different cleft types. The most frequently affected teeth by cleft are by far the upper lateral incisors. Results indicate that tooth agenesis appears to be a genetically controlled anomaly related to the orofacial cleft development through various genetic links and not caused by the cleft disruptive process.

The gingival Stillman's clefts: histopathology and cellular characteristics.

PubMed

Cassini, Maria Antonietta; Cerroni, Loredana; Ferlosio, Amedeo; Orlandi, Augusto; Pilloni, Andrea

2015-01-01

Stillman's cleft is a mucogingival triangular-shaped defect on the buccal surface of a root with unknown etiology and pathogenesis. The aim of this study is to examine the Stillman's cleft obtained from excision during root coverage surgical procedures at an histopathological level. Harvesting of cleft was obtained from two periodontally healthy patients with a scalpel and a bevel incision and then placed in a test tube with buffered solution to be processed for light microscopy. Microscopic analysis has shown that Stillman's cleft presented a lichenoid hand-like inflammatory infiltration, while in the periodontal patient an inflammatory fibrous hyperplasia was identified. Stillman's cleft remains to be investigated as for the possible causes of such lesion of the gingival margin, although an inflammatory response seems to be evident and active from a strictly histopathological standpoint.

Histologic and immunohistochemical characteristics of cutaneous cysts in Goltz-Gorlin syndrome: clues for differentiation of nonsyndromic cysts.

PubMed

Tirado, Mariantonieta; Ständer, Sonja; Metze, Dieter

2014-11-01

Goltz-Gorlin syndrome presents with multiple basal cell carcinomas, odontogenic keratocysts, and cutaneous cysts, among other manifestations. The cutaneous cysts have been described as both epidermoid cysts and keratocysts but were not further characterized. Light microscopic examinations were made on 23 cutaneous cysts in 4 patients associated with Goltz-Gorlin syndrome located on extremities, face, trunk, palms, and soles and compared with nonsyndromic vellus hair cysts, steatocystomas, and hybrid cysts. Twenty-one of the syndromic cysts revealed alternating infundibular-like and steatocystoma-like squamous epitheliums in varying proportions. The cysts were lined by both smooth and corrugated squamous epithelium. The horny layer was composed by alternating areas of thin, lamellate, and compact eosinophilic keratin. Only 2 cases showed an exclusive steatocystoma-like type of epithelium very similar to odontogenic keratocysts. Sebaceous glands and follicular structures were absent. There were no differences between palmar and plantar cysts and other anatomic locations. The ultrastructural findings in syndromatic cysts confirmed variable expression of keratohyalin granules. Only 3 of 6 cases of nonsyndromic hybrid cysts showed overlapping features with syndromic cysts. Immunohistochemical profiling of keratin, involucrin, filaggrin, loricrin, and BCL-2 expression in syndromatic cysts showed exclusive positivity of K19 and continuous staining for BCL-2. In summary, 2 types of cutaneous cysts are characteristic of Goltz-Gorlin, irrelevant of their anatomic location, namely steatocystoma-like and more frequently hybrid-like. The diagnosis of syndromic hybrid-like cysts should be considered whenever infundibular and steatocystoma differentiation alternate and overlap. Altogether, these findings in epithelial cysts may raise the suspicion of Goltz-Gorlin as an underlying cause.

Unicameral and aneurysmal bone cysts.

PubMed

Campanacci, M; Capanna, R; Picci, P

1986-03-01

One hundred and seventy-eight cases of unicameral bone cysts (UBC) treated with curettage and bone grafting were compared to 141 cases treated with cortisone injections. The end results were comparable in the two groups. Local recurrence risk factors in the surgical group were active cyst and previous operations. In the other group they were multilocation of the cyst, active cyst, and size of cyst. A new radiographic classification of aneurysmal bone cyst (ABC) is proposed in a report of 198 cases of ABC. The treatment of choice in ABC is surgical and the type (curettage, curettage plus phenole or cryosurgery, resection or hemiresection) is selected on the basis of the radiographic aspect and the rate of growth of the cyst. Radiotherapy is only indicated in inoperable ABC cases.

Mycotic cysts: report of 21 cases including eight pheomycotic cysts from Saudi Arabia.

PubMed

Sheikh, Salwa S; Amr, Samir S

2007-04-01

Mycotic cysts are subcutaneous cystic granulomas caused by either dematiaceous (pigmented) fungi (pheomycotic cysts) or eumycotic (nonpigmented fungi) present in soil, wood, and decaying plant material. These fungi gain access to the tissues via a wooden splinter or thorn. No deep tissue involvement or extension to bone is known to occur. We reviewed our surgical pathology files for the last 32 years. All cases with the diagnosis of cysts with fungi, thorns, or splinters and associated granulomatous and acute inflammation were reviewed. Gomori's silver and periodic acid-Schiff stains were performed in all cases. Twenty-one cases of mycotic cyst were found, including eight pheomycotic cysts (one with a recurrent lesion seen 11 months after the initial excision of the cyst). Thirteen cysts had nonpigmented fungal hyphae. There were 14 males and seven females, with an age range of 5-76 years. The dorsum of the foot was the most frequently affected site (12 cases). Four cases involved the fingers, two involved the knee area, two involved the big toe, and one each involved the leg, ankle, and forearm. The cysts measured 0.6-4.5 cm in diameter. Histologically, there was granulomatous inflammation with a variable degree of neutrophilic infiltrate giving central abscess formation. Twelve cases showed a wooden splinter. All cases were positive for fungal organisms, mostly septate hyphae and spores that were highlighted by special stains. Fungal pigment, ranging from yellow-brown to light brown to black, was observed in eight cases. No extension to deep tissues was noted. The clinical impression varied widely including ganglion, sebaceous cyst, giant cell tumor of the tendon sheath, and lipoma. One patient was immunosuppressed following renal transplantation. All patients were treated by simple excision. No antifungal chemotherapy was needed or administered in any of the patients. One patient had a recurrence of his lesion within 1 year as a result of inadequate initial

Autosomal dominant transmission of a Goldenhar-like syndrome: Description of a family and report of a sporadic case with a de novo 4p16;8q24.11 translocation

DOE Office of Scientific and Technical Information (OSTI.GOV)

Graganm H.N. Jr.; Hixon, H.; Bacino, C.A.

1994-09-01

We report vertical transmission of a Goldenhar-like syndrome, including a father and 5 offspring, with male-to-male transmission and variable features that include hearing loss, ear anomalies (microtia, ear tags/pits), branchial cysts, ocular/periocular dermoids, micrognathia and seizures. We also report an individual with an apparently balanced de novo reciprocal translocation with breakpoints at 4p16 and 8q24.11. This individual has unilateral microtia, an epibulbar dermoid cyst, facial asymmetry with a small chin, and seizures. In addition to these features resembling those seen in the family above, she has multiple exostoses, supraventricular tachycardia, hypoglycemia and mild developmental delays. Based on the overlap inmore » physical findings between this family and the individual with the de novo reciprocal translocation, linkage studies on the family were intiated. Preliminary results exclude linkage to HOX 7 at 4p16.1 but not to 8q. The brancho-oto-renal syndrome has previously been localized to 8q11-8q13, but linkage to this region appears unlikely. Although most cases of Goldenhar syndrome appear to be sporadic, there are a few reports of autosomal dominant inheritance (MIM No. 164210). One such family showed vertical transmission of dermoids, ear anomalies, hearing loss, micrognathia and vertebral anomalies, but no branchial cysts. Another family showed sensorineural deafness, preauricular pits, and branchial fistulae, and other families reveal ear anomalies, branchial fistulas, and hearing loss. These latter families appear to lack ocular/periocular dermoids, and appear to be affected by a different disorder (MIM No. 125100). Further clinical delineation of such families, combined with genetic linkage analysis, should help to sort out this heterogeneity.« less

Otofaciocervical syndrome and metachondromatosis in a girl: Presentation of a novel association and remarks on clinical variability of branchial-arch disorders.

PubMed

Salinas-Torres, Victor M; Salinas-Torres, Rafael A

2016-06-01

Otofaciocervical syndrome (OFCS) is a rare disorder characterized by facial, ear, branchial, and musculoskeletal anomalies, along with hearing loss and mild intellectual disability. Clinically, its distinction from branchiootorenal syndrome can be difficult. To date, the coexistence of OFCS and metachondromatosis has not been reported. Here, we describe a sporadic patient with both OFCS and metachondromatosis. This novel association prompts us to do some remarks on the clinical variability of branchial-arch disorders; in fact, our observations are consistent with the highly variable expressivity of OFCS and illustrate the need of a more accurate characterization of these branchial-arch disorders. In the meantime, involvement of clavicles, scapulae and shoulders remains a distinctive feature of OFCS. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Africa has unique and urgent barriers to cleft care: lessons from practitioners at the Pan-African Congress on Cleft Lip and Palate.

PubMed

Adetayo, Oluwaseun; Ford, Rachel; Martin, Mark

2012-01-01

The goals of this study were to delineate the protocols employed for managing patients with cleft lip and palate deformities, delineate the challenges facing practitioners and patients, and to determine the patient and physician barriers to cleft care delivery in the region. Survey questionnaires were administered to practitioners attending the second Pan-African Congress on Cleft Lip and Palate (PACCLIP), which took place in Ibadan, Nigeria, West Africa from February 4-7, 2007. The conference included 225 participants, representing 17 African countries Protocols for repair of cleft lip and palate deformities were varied, with Millard's and von Langenbeck's techniques being the preferred approach for the management of cleft lip and palate deformities, respectively. A large proportion of providers have limited access to core cleft care supporting teams, especially speech language pathologists, orthodontists, and audiologists. Several challenging barriers to cleft care were also identified at both the institutional and individual levels and are reported. Geographic separation in Africa presents a similar challenge due to isolationism as it does to surgeons in Europe. Specific to Africa are the increased barriers to care, and economic and financial hardship at various levels. A focus on funding, team building, infrastructural support, and patient education appear to be crucial in improving the care and lives of children with facial clefts in Africa.

Congenital Palatal Fistula Associated with Submucous Cleft Palate

PubMed Central

Eshete, Mekonen; Camison, Liliana; Abate, Fikre; Hailu, Taye; Demissie, Yohannes; Mohammed, Ibrahim; Butali, Azeez; Losken, H. Wolfgang

2016-01-01

Background: Although cleft lip and cleft palate are among the most common congenital malformations, the presence of an isolated congenital palatal fistula along with a submucous cleft is very rare. This appears as an oval-shaped, full-thickness fenestration in the palatal midline that does not fully extend anteriorly or posteriorly, accompanied by the findings of a submucous cleft. Because of the uncommon nature of this entity, there is controversy about its etiology, diagnosis, and management. Methods: Two cases of children with congenital palatal fistulae and a submucous cleft palate are presented who were treated in different settings by different surgeons. Cases are discussed along with a thorough review of the available literature. Results: Patient 1 presented at 4 years of age with “a hole in the palate” since birth and abnormal speech. His palatal fistula and submucous cleft were repaired with a modified von Langenbeck technique in Ethiopia. At a 2-year follow-up, the palate remained closed, but hypernasal speech persisted. Patient 2 was a 1-year-old presenting with failure to thrive and nasal regurgitation, who underwent a Furlow palatoplasty in the United States with good immediate results. She was unfortunately lost to follow-up. Conclusions: A congenital fenestration of the palate is rare. Reports reveal suboptimal speech at follow-up, despite various types of repair, especially when combined with a submucous cleft. Available literature suggests that repair should not focus on fistula closure only but instead on providing adequate palate length to provide good velopharyngeal function, as in any cleft palate repair. PMID:27014542

Simulating clefts in pumpkin balloons

NASA Astrophysics Data System (ADS)

Baginski, Frank; Brakke, Kenneth

2010-02-01

The geometry of a large axisymmetric balloon with positive differential pressure, such as a sphere, leads to very high film stresses. These stresses can be significantly reduced by using a tendon re-enforced lobed pumpkin-like shape. A number of schemes have been proposed to achieve a cyclically symmetric pumpkin shape, including the constant bulge angle (CBA) design, the constant bulge radius (CBR) design, CBA/CBR hybrids, and NASA’s recent constant stress (CS) design. Utilizing a hybrid CBA/CBR pumpkin design, Flight 555-NT in June 2006 formed an S-cleft and was unable to fully deploy. In order to better understand the S-cleft phenomenon, a series of inflation tests involving four 27-m diameter 200-gore pumpkin balloons were conducted in 2007. One of the test vehicles was a 1/3-scale mockup of the Flight 555-NT balloon. Using an inflation procedure intended to mimic ascent, the 1/3-scale mockup developed an S-cleft feature strikingly similar to the one observed in Flight 555-NT. Our analysis of the 1/3-scale mockup found it to be unstable. We compute asymmetric equilibrium configurations of this balloon, including shapes with an S-cleft feature.

Variation in branchial expression among insulin-like growth-factor binding proteins (igfbps) during Atlantic salmon smoltification and seawater exposure

USGS Publications Warehouse

Breves, Jason P.; Fujimoto, Chelsea K.; Phipps-Costin, Silas K.; Einarsdottir, Ingibjörg E.; Björnsson, Björn Thrandur; McCormick, Stephen

2017-01-01

BackgroundIn preparation for migration from freshwater to marine habitats, Atlantic salmon (Salmo salar L.) undergo smoltification, a transformation that includes the acquisition of hyposmoregulatory capacity. The growth hormone (Gh)/insulin-like growth-factor (Igf) axis promotes the development of branchial ionoregulatory functions that underlie ion secretion. Igfs interact with a suite of Igf binding proteins (Igfbps) that modulate hormone activity. In Atlantic salmon smolts, igfbp4,−5a,−5b1,−5b2,−6b1 and−6b2 transcripts are highly expressed in gill. We measured mRNA levels of branchial and hepatic igfbps during smoltification (March, April, and May), desmoltification (July) and following seawater (SW) exposure in March and May. We also characterized parallel changes in a broad suite of osmoregulatory (branchial Na+/K+-ATPase (Nka) activity, Na+ /K + /2Cl − cotransporter 1 (nkcc1) and cystic fibrosis transmembrane regulator 1 (cftr1) transcription) and endocrine (plasma Gh and Igf1) parameters.ResultsIndicative of smoltification, we observed increased branchial Nka activity, nkcc1 and cftr1 transcription in May. Branchial igfbp6b1 and -6b2 expression increased coincidentally with smoltification. Following a SW challenge in March, igfbp6b1 showed increased expression while igfbp6b2 exhibited diminished expression. igfbp5a,−5b1 and−5b2 mRNA levels did not change during smolting, but each had lower levels following a SW exposure in March.ConclusionsSalmonids express an especially large suite of igfbps. Our data suggest that dynamic expression of particular igfbps accompanies smoltification and SW challenges; thus, transcriptional control of igfbps may provide a mechanism for the local modulation of Igf activity in salmon gill.

Presurgical cleft lip anthropometrics and dental arch relationships in patients with complete unilateral cleft lip and palate.

PubMed

Antonarakis, Gregory S; Adibfar, Alex; Tompson, Bryan D; Paedo, D; Daskalogiannakis, John; Fisher, David M

2015-05-01

To investigate associations between anthropometric lip measurements and dental arch relationships in patients with complete unilateral cleft lip and palate (CUCLP). Retrospective cross-sectional study. Children with CUCLP. Anthropometric lip measurements, made immediately prior to lip repair, were available for each patient. The dental arch relationships were evaluated on dental study casts (8.6 ± 0.9 years) taken prior to any orthodontic treatment and prior to alveolar bone graft, using the modified Huddart and Bodenham (MHB) scoring system. The presence of associations between anthropometric lip measurements and dental arch relationships was determined using linear regression analysis. In the 63 patients included in the study, the cleft lateral lip element was deficient in height in 87% and in transverse width in 86% of patients. Patients with more deficient cleft-side lateral lip height were more likely to present with more negative MHB scores (r = .443; P < .001). Conversely, patients with more deficient cleft-side lateral lip transverse width more often presented with more positive MHB scores (r = .281; P = .025). In patients with CUCLP, there is a wide variability in the degree of deficiency of the cleft-side lateral lip element, both in the vertical and in the transverse dimension. The extent of this deficiency may, in part, predict the resulting dental arch relationships.

A study of the mechanisms by which the cercariae of Microphallus primas (Jag, 1909) Stunkard, 1957 penetrate the shore crab, Carcinus maenas (L).

PubMed

Saville, D H; Irwin, S W B

2005-10-01

This study established the mechanisms by which Microphallus primas cercariae penetrate the crab Carcinus maenas in which they form metacercarial cysts. Light and electron microscopy were used to investigate cercarial features and to follow the fate of cercariae released in close proximity to crabs. It was shown that cercariae were carried in respiratory currents into crabs' branchial chambers where each enveloped itself in a transparent penetration cyst on the gill lamellae. When cercariae were present the number of respiratory current reversals performed by crabs increased. Using an 'artificial branchial chamber' it was possible to observe how cercariae attached to crab gills during breaks in current flow that preceded each current reversal. Inside the penetration cysts the now tail-less larvae used their stylets to pierce holes through which they levered themselves into underlying haemolymph channels in the gills. Histochemical tests demonstrated that the penetration cysts were products of glands in the cercariae and that penetration of the crabs was achieved by mechanical means. The importance of crab respiratory current reversals to the success of cercarial penetration is discussed as it represents the exploitation by a parasite of a host behavioural response to an unrelated stimulus.

Exclusion of linkage between cleft lip with or without cleft palate and markers on chromosomes 4 and 6

DOE Office of Scientific and Technical Information (OSTI.GOV)

Blanton, S.H.; Malcolm, S.; Winter, R.

1996-01-01

Nonsyndromic cleft lip with or without associate cleft palate (CLP) is a common craniofacial defect, occurring in {approximately}1/1,000 live births. While the defect generally occurs sporadically, multiplex families have been reported. Segregation analyses have demonstrated that, in some families, CLP is inherited as an autosomal dominant/codominant disorder with low penetrance. Several clefting loci have been proposed on multiple chromosomes, including 6p24, 4q, and 19q13.1. Association studies and linkage studies suggested a locus that mapped to 6p24. We were unable to confirm this in a linkage study of 12 multigenerational families. A subsequent linkage study by Carinci et al., however, foundmore » evidence for linkage to this region in 14 of 21 clefting families. Additionally, Davies et al. studied the chromosomes of three individuals with cleft lip and palate, all of whom had a rearrangement involving 6p24. Their investigation supported a locus at 6p24. Carinci et al. reported that the most likely position for a clefting locus was at D6S89, which is centromeric to EDN1. This is in contrast to the findings of Davies et al., who suggested a placement telomeric to EDN1. F13A, which had been implicated in the initial association studies, is telomeric to EDN1. Thus, the region between F13A and D6S89 encompasses the regions proposed by both Davies et al. and Carinci et al. A second clefting locus, at 4q, was proposed by Beiraghi et al., who studied a single multigenerational family by linkage analysis. Their data suggested a locus near D4S175 and D4S192. 10 refs., 1 tab.« less

Psychometric findings and normative values for the CLEFT-Q based on 2434 children and young adult patients with cleft lip and/or palate from 12 countries.

PubMed

Klassen, Anne F; Riff, Karen Wy Wong; Longmire, Natasha M; Albert, Asteria; Allen, Gregory C; Aydin, Mustafa Asim; Baker, Stephen B; Cano, Stefan J; Chan, Andrew J; Courtemanche, Douglas J; Dreise, Marieke M; Goldstein, Jesse A; Goodacre, Timothy E E; Harman, Karen E; Munill, Montserrat; Mahony, Aisling O; Aguilera, Mirta Palomares; Peterson, Petra; Pusic, Andrea L; Slator, Rona; Stiernman, Mia; Tsangaris, Elena; Tholpady, Sunil S; Vargas, Federico; Forrest, Christopher R

2018-04-16

Patients with cleft lip and/or palate can undergo numerous procedures to improve appearance, speech, dentition and hearing. We developed a cleft-specific patient-reported outcome instrument to facilitate rigorous international measurement and benchmarking. Data were collected from patients aged 8-29 years with cleft lip and/or palate at 30 hospitals in 12 countries between October 2014 and November 2016. Rasch measurement theory analysis was used to refine the scales and to examine reliability and validity. Normative CLEFT-Q values were computed for age, sex and cleft type. Analysis led to the refinement of an eating and drinking checklist and 12 scales measuring appearance (of the face, nose, nostrils, teeth, lips, jaws and cleft lip scar), health-related quality of life (psychological, social, school, speech distress) and speech function. All scales met the requirements of the Rasch model. Analysis to explore differential item functioning by age, sex and country provided evidence to support the use of a common scoring algorithm for each scale for international use. Lower (worse) scores on CLEFT-Q scales were associated with having a speech problem, being unhappy with facial appearance, and needing future cleft-related treatments, providing evidence of construct validity. Normative values for age, sex and cleft type showed poorer outcomes associated with older age, female sex and having a visible cleft. The CLEFT-Q represents a rigorously developed instrument that can be used internationally to collect and compare evidence-based outcomes data from patients aged 8-29 years of age with cleft lip and/or palate. © 2018 Joule Inc. or its licensors.

Psychometric findings and normative values for the CLEFT-Q based on 2434 children and young adult patients with cleft lip and/or palate from 12 countries

PubMed Central

Riff, Karen WY Wong; Longmire, Natasha M.; Albert, Asteria; Allen, Gregory C.; Aydin, Mustafa Asim; Baker, Stephen B.; Cano, Stefan J.; Chan, Andrew J.; Courtemanche, Douglas J.; Dreise, Marieke M.; Goldstein, Jesse A.; Goodacre, Timothy E.E.; Harman, Karen E.; Munill, Montserrat; Mahony, Aisling O.; Aguilera, Mirta Palomares; Peterson, Petra; Pusic, Andrea L.; Slator, Rona; Stiernman, Mia; Tsangaris, Elena; Tholpady, Sunil S.; Vargas, Federico; Forrest, Christopher R.

2018-01-01

BACKGROUND: Patients with cleft lip and/or palate can undergo numerous procedures to improve appearance, speech, dentition and hearing. We developed a cleft-specific patient-reported outcome instrument to facilitate rigorous international measurement and benchmarking. METHODS: Data were collected from patients aged 8–29 years with cleft lip and/or palate at 30 hospitals in 12 countries between October 2014 and November 2016. Rasch measurement theory analysis was used to refine the scales and to examine reliability and validity. Normative CLEFT-Q values were computed for age, sex and cleft type. RESULTS: Analysis led to the refinement of an eating and drinking checklist and 12 scales measuring appearance (of the face, nose, nostrils, teeth, lips, jaws and cleft lip scar), health-related quality of life (psychological, social, school, speech distress) and speech function. All scales met the requirements of the Rasch model. Analysis to explore differential item functioning by age, sex and country provided evidence to support the use of a common scoring algorithm for each scale for international use. Lower (worse) scores on CLEFT-Q scales were associated with having a speech problem, being unhappy with facial appearance, and needing future cleft-related treatments, providing evidence of construct validity. Normative values for age, sex and cleft type showed poorer outcomes associated with older age, female sex and having a visible cleft. INTERPRETATION: The CLEFT-Q represents a rigorously developed instrument that can be used internationally to collect and compare evidence-based outcomes data from patients aged 8–29 years of age with cleft lip and/or palate. PMID:29661814

Dentigerous cyst in a dog.

PubMed

Lobprise, H B; Wiggs, R B

1992-03-01

An infrequently occurring tumor-like lesion arising from the cellular components of the developing dental follicle is the dentigerous cyst. These odontogenic cysts have classic clinical and radiographic findings. The cysts are locally invasive and aggressive and require prompt surgical management. This case describes the diagnosis and surgical treatment of a dentigerous cyst in the mandible of a dog.

Variations in Velopharyngeal Structure in Adults With Repaired Cleft Palate.

PubMed

Perry, Jamie L; Kotlarek, Katelyn J; Sutton, Bradley P; Kuehn, David P; Jaskolka, Michael S; Fang, Xiangming; Point, Stuart W; Rauccio, Frank

2018-01-01

The purpose of this study was to examine differences in velopharyngeal structures between adults with repaired cleft palate and normal resonance and adults without cleft palate. Thirty-six English-speaking adults, including 6 adults (2 males and 4 females) with repaired cleft palate (M = 32.5 years of age, SD = 17.4 years) and 30 adults (15 males and 15 females) without cleft palate (M = 23.3 years of age, SD = 4.1 years), participated in the study. Fourteen velopharyngeal measures were obtained on magnetic resonance images and compared between groups (cleft and noncleft). After adjusting for body size and sex effects, there was a statistically significant difference between groups for 10 out of the 14 velopharyngeal measures. Compared to those without cleft palate, participants with repaired cleft palate had a significantly shorter hard palate height and length, shorter levator muscle length, shorter intravelar segment, more acute levator angles of origin, shorter and thinner velum, and greater pharyngeal depth. Although significant differences were evident in the cleft palate group, individuals displayed normal resonance. These findings suggest that a wide variability in velopharyngeal anatomy can occur in the presence of normal resonance, particularly for those with repaired cleft palate. Future research is needed to understand how anatomic variability impacts function, such as during speech.

Cone-Beam Computed Tomography Assessment of Lower Facial Asymmetry in Unilateral Cleft Lip and Palate and Non-Cleft Patients with Class III Skeletal Relationship.

PubMed

Lin, Yifan; Chen, Gui; Fu, Zhen; Ma, Lian; Li, Weiran

2015-01-01

To evaluate, using cone-beam computed tomography (CBCT), both the condylar-fossa relationships and the mandibular and condylar asymmetries between unilateral cleft lip and palate (UCLP) patients and non-cleft patients with class III skeletal relationship, and to investigate the factors of asymmetry contributing to chin deviation. The UCLP and non-cleft groups consisted of 30 and 40 subjects, respectively, in mixed dentition with class III skeletal relationships. Condylar-fossa relationships and the dimensional and positional asymmetries of the condyles and mandibles were examined using CBCT. Intra-group differences were compared between two sides in both groups using a paired t-test. Furthermore, correlations between each measurement and chin deviation were assessed. It was observed that 90% of UCLP and 67.5% of non-cleft subjects had both condyles centered, and no significant asymmetry was found. The axial angle and the condylar center distances to the midsagittal plane were significantly greater on the cleft side than on the non-cleft side (P=0.001 and P=0.028, respectively) and were positively correlated with chin deviation in the UCLP group. Except for a larger gonial angle on the cleft side, the two groups presented with consistent asymmetries showing shorter mandibular bodies and total mandibular lengths on the cleft (deviated) side. The average chin deviation was 1.63 mm to the cleft side, and the average absolute chin deviation was significantly greater in the UCLP group than in the non-cleft group (P=0.037). Compared with non-cleft subjects with similar class III skeletal relationships, the subjects with UCLP showed more severe lower facial asymmetry. The subjects with UCLP presented with more asymmetrical positions and rotations of the condyles on axial slices, which were positively correlated with chin deviation.

Swallowing function after laryngeal cleft repair: more than just fixing the cleft.

PubMed

Osborn, Alexander J; de Alarcon, Alessandro; Tabangin, Meredith E; Miller, Claire K; Cotton, Robin T; Rutter, Michael J

2014-08-01

To evaluate and describe the swallowing function in children after laryngeal cleft repair. Ten-year (2002-2012) retrospective chart review. Academic tertiary care pediatric otolaryngology practice. Records of 60 children who had surgical repair of laryngeal cleft (ages 2 weeks-14 years) and postoperative functional endoscopic evaluation of swallowing or videofluoroscopic swallow studies were examined retrospectively. Twenty-nine children had one postoperative swallow evaluation, 19 children had two, 4 children had three, 5 children had four, and 3 children had five. Median time to the first evaluation was 10.8 weeks (interquartile range [IQR]: 36.5, 231). On the final swallow evaluation, 34 (57%) children demonstrated normal swallowing parameters, 12 (20%) children showed penetration, and 14 (23%) children showed aspiration. Forty-three (72%) children were able to take everything by mouth normally or with minor behavioral modifications, 11 (18%) children required thickened fluids, and six (10%) children were kept nil per os (NPO). Mean improvement on the penetration-aspiration (pen-asp) scale was 2.13. On multivariable analysis, neurodevelopmental issues and gastronomy tube use were associated with the need for NPO status. Despite a high rate of surgical success, a substantial minority of children have persistent swallowing dysfunction after laryngeal cleft repair. Swallowing dysfunction after repair is multifactorial and arises from concomitant neurologic, anatomic, or other comorbidities that contribute to oropharyngeal and pharyngeal dysphagia. Based on our results, we recommend a testing schedule for postoperative swallowing evaluations after cleft repair. © 2014 The American Laryngological, Rhinological and Otological Society, Inc.

#Cleft: The use of Social Media Amongst Parents of Infants with Clefts.

PubMed

Khouri, Joseph S; McCheyne, Melisande J; Morrison, Clinton S

2018-01-01

Introduction Many societies and organizations are using social media to reach their target audience. The extent to which parents of patients with craniofacial anomalies use social media has yet to be determined. The goal of this study is to characterize and describe the use of social media by the parents of children with cleft lip and palate as it pertains to the care of their child. Materials and Methods Parents or guardian of all patients presenting for initial consultation regarding a child's congenital cleft anomaly were contacted by phone or mail to complete a survey regarding their use of social media vis-à-vis their child's cleft anomaly. Participants were asked to answer a 19-question survey. Results Thirty-two families were contacted and 25 surveys were completed. Ninety-two percent of respondents used social media to learn about their child's diagnosis. Facebook (76%) and blogs (24%) were the most commonly accessed social media outlets, followed by Instagram (8%). Education about the diagnosis and treatment of cleft pathology (87%) was the most common reason for accessing social media, followed by companionship and support (56%), and advice about perioperative care (52%). Almost half (43%) of parents used social media to obtain information on their caregiver and treatment team, and 26% of parents used information gained on social media to guide their decision on where to seek care. Conclusion Social media is a readily available resource, one that will certainly shape the experiences of our patients and families for years to come.

[A retrospective study of orthodontic treatment of children with clefts].

PubMed

Brin, I; Bar-Abudi, R; Abed, Y; Ben-Bassat, Y; Harari, D; Zilberman, Y

2003-04-01

To evaluate the population of cleft patients treated in a Department of Orthodontics and the types of treatment modalities provided. Demographic, cleft related and treatment related data existing in the patients' files were supplemented by questionnaires. Comparisons were conducted among 3 cleft groups: cleft lip (CL), cleft lip and palate (CLP) and cleft palate (CP). The response rate was 36% (n = 152). The distribution of the patients in the 3 cleft groups, the sidedness, the male predominance and association with additional anomalies were similar to the reports in the literature. Most of the patients were the 3rd born (or more) and were of normal birth weight. Consanguity in the cleft families was at least 2.5 times more prevalent than that of the Israeli population and 30% reported on additional cleft in the family. Low birth weight and additional anomalies were found mainly in the CP group. Orthodontic involvement spanned 3 developmental periods: immediate postnatal presurgical treatment, phase I between the ages 6-8 years and full orthodontic treatment at a later age. Up to the age of 5 years only one lip operation was performed for 60% of the lip-affected children and one palate operation for 65% of the palate affected patients. 1. The distribution of the various cleft-related parameters in this retrospective study was similar to the findings in the literature. 2. The high prevalence of additional anomalies found emphasizes the need for a thorough examination of the cleft babies. 3. Orthodontic treatment was rendered in one and two phase protocols in addition to immediate postnatal pre-surgical intervention.

Pancreas and cyst segmentation

NASA Astrophysics Data System (ADS)

Dmitriev, Konstantin; Gutenko, Ievgeniia; Nadeem, Saad; Kaufman, Arie

2016-03-01

Accurate segmentation of abdominal organs from medical images is an essential part of surgical planning and computer-aided disease diagnosis. Many existing algorithms are specialized for the segmentation of healthy organs. Cystic pancreas segmentation is especially challenging due to its low contrast boundaries, variability in shape, location and the stage of the pancreatic cancer. We present a semi-automatic segmentation algorithm for pancreata with cysts. In contrast to existing automatic segmentation approaches for healthy pancreas segmentation which are amenable to atlas/statistical shape approaches, a pancreas with cysts can have even higher variability with respect to the shape of the pancreas due to the size and shape of the cyst(s). Hence, fine results are better attained with semi-automatic steerable approaches. We use a novel combination of random walker and region growing approaches to delineate the boundaries of the pancreas and cysts with respective best Dice coefficients of 85.1% and 86.7%, and respective best volumetric overlap errors of 26.0% and 23.5%. Results show that the proposed algorithm for pancreas and pancreatic cyst segmentation is accurate and stable.

Incidence of bifid uvula and its relationship to submucous cleft palate and a family history of oral cleft in the Brazilian population.

PubMed

Sales, Sizina Aguiar G; Santos, Maria Luiza; Machado, Renato Assis; Dias, Verônica Oliveira; Nascimento, Jairo Evangelista; Swerts, Mario Sérgio Oliveira; Júnior, Hercílio Martelli; Martelli, Daniella Reis Barbosa

2017-08-24

Bifid uvula is a frequently observed anomaly in the general population and can be regarded as a marker for submucous cleft palate. In this study aimed to determine the frequency of bifid uvula and submucous cleft palate and their relationship with oral clefts in a Brazilian population. We conducted a transversal, descriptive and quantitative study of 1206 children between August 2014 and December 2015. A clinical examination of the children was conducted by means of inspection of the oral cavity with the aid of a tongue depressor and directed light. After the clinical examination in children, parents answered a questionnaire with questions about basic demographic information and their family history of oral clefts in their first-degree relatives. After application of the questionnaires, the information collected was archived in a database and analyzed by the statistical program SPSS ® version 19.0, by applying Chi-Square tests. Values with p<0.05 were considered statistically significant. Of the 1206 children included in this study, 608 (50.40%) were female and 598 (49.60%) were male (p=0.773). The average age of children was 3.75 years (standard deviation±3.78 years). Of the 1206 children studied, 6 (0.5%) presented with bifid uvula. Submucosal cleft palate was not found in any child. When the family histories of children were examined for the presence of nonsyndromic cleft lip and/or cleft palate, no first degree relatives presented with the congenital anomaly. This study revealed that the incidence of bifid uvula and submucous cleft palate in this population was quite similar to previously reported incidence rates. Our study suggests an intensification of new reviews, with broader and diverse populations, seeking to associate the occurrence of bifid uvula, submucous cleft palate and oral clefts. Copyright © 2017 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

[Morphological classification and velopharyngeal function analysis of submucous cleft palate patients].

PubMed

Heng, Yin; Chunli, Guo; Bing, Shi; Yang, Li; Jingtao, Li

2016-10-01

To enhance the accuracy in diagnosis and management of submucous cleft palate via a thorough analysis of its anatomical and functional details. Two hundred seventy-six submucous cleft palate cases from 2008 to 2014 were retrospectively investigated. Subgroup analysis were performed on the basis of preoperative velopharyngeal function, palatal morphology, cleft lip concurrence, and patient motives for treatment. Among the included cases, 96 (34.78%) were presented as velopharyngeal competence (VPC), 151 (54.71%) as velopharyngeal insufficiency (VPI), and 29 (10.51%) as marginal VPI (MVPI). Eighty cases (28.99%) also demonstrated cleft lip deformity, and 196 cases (71.01%) were merely submucous cleft palate. Compared with patients with submucous cleft palate only, those with cleft lips exhibited higher rates of complete velopharyngeal closure. The pathological spectrum of submucous cleft palate varied significantly. Only 103 (37.32%) cases met all the three diagnostic criteria proposed by Calnan. Given that the velopharyngeal closure rate varies among the subgroups, the factors analyzed in this study should be considered in the personalized manage-ment of submucous cleft palate.

Prevalence and Characteristics of Developmental Dental Anomalies in Iranian Orofacial Cleft Patients

PubMed Central

Ajami, Shabnam; Pakshir, Hamidreza; Samady, Hedyeh

2017-01-01

Statement of the Problem: Individuals with oral clefts exhibit considerably more dental anomalies than individuals without clefts. These problems could initially be among the symptoms of their disease and/or they may be the side effect of their treatments. Pushback palatoplasty could cause some interference during the development of teeth and result in tooth defects. Purpose: The study was performed to assess the prevalence and characteristics of developmental dental anomalies in orofacial cleft patients who attended Shiraz Orthodontics Research Center-Cleft Lip and Palate Clinic. We managed to compare dental anomaly traits based on gender and cleft side. Materials and Method: Eighty out of 121 cleft patients were included in this cross-sectional study. All the patients used pushback palatoplasty in their palate closure surgeries. Intraoral photographs, panoramic and intraoral radiographs, cone-beam computed tomography (CBCT) and dental and medical histories were examined and recorded by two observers. Data were analyzed using SPSS PC version 20.0. The differences in the side of cleft and dental anomalies were compared using the Mann-Whitney test. Results: The mean age of patients was 14.27 years (SD=5.06). The most frequent cleft type was unilateral cleft lip and palate (50%) followed by bilateral cleft lip and palate (43.75%), cleft palate (2.5%) and cleft lip (1.25%). Male predominance (70%) was observed. 92.5 percent had at least one developmental dental anomaly. The most prevalent anomalies were hypodontia (71.25%) followed by microdontia (30%), root dilacerations (21.25%) and supernumerary teeth (15%). Conclusion: The most prevalent cleft types were unilateral and bilateral cleft lip and palate with male and left side predominance. Hypodontia, microdontia, dilacerations and supernumerary teeth were the most prevalent developmental dental anomalies among Iranian southwestern cleft patients. The surgical technique used to repair their cleft palate may have

Prevalence and Characteristics of Developmental Dental Anomalies in Iranian Orofacial Cleft Patients.

PubMed

Ajami, Shabnam; Pakshir, Hamidreza; Samady, Hedyeh

2017-09-01

Individuals with oral clefts exhibit considerably more dental anomalies than individuals without clefts. These problems could initially be among the symptoms of their disease and/or they may be the side effect of their treatments. Pushback palatoplasty could cause some interference during the development of teeth and result in tooth defects. The study was performed to assess the prevalence and characteristics of developmental dental anomalies in orofacial cleft patients who attended Shiraz Orthodontics Research Center-Cleft Lip and Palate Clinic. We managed to compare dental anomaly traits based on gender and cleft side. Eighty out of 121 cleft patients were included in this cross-sectional study. All the patients used pushback palatoplasty in their palate closure surgeries. Intraoral photographs, panoramic and intraoral radiographs, cone-beam computed tomography (CBCT) and dental and medical histories were examined and recorded by two observers. Data were analyzed using SPSS PC version 20.0. The differences in the side of cleft and dental anomalies were compared using the Mann-Whitney test. The mean age of patients was 14.27 years (SD=5.06). The most frequent cleft type was unilateral cleft lip and palate (50%) followed by bilateral cleft lip and palate (43.75%), cleft palate (2.5%) and cleft lip (1.25%). Male predominance (70%) was observed. 92.5 percent had at least one developmental dental anomaly. The most prevalent anomalies were hypodontia (71.25%) followed by microdontia (30%), root dilacerations (21.25%) and supernumerary teeth (15%). The most prevalent cleft types were unilateral and bilateral cleft lip and palate with male and left side predominance. Hypodontia, microdontia, dilacerations and supernumerary teeth were the most prevalent developmental dental anomalies among Iranian southwestern cleft patients. The surgical technique used to repair their cleft palate may have played a role in developmental dental defects.

Globulomaxillary cysts--do they really exist?

PubMed

Dammer, U; Driemel, O; Mohren, W; Giedl, C; Reichert, T E

2014-01-01

The so-called "globulomaxillary cyst", described as a fissural cyst, caused by entrapped epithelium between the nasal and maxillary process, is no longer considered for its own entity. Nevertheless, cystic lesions, which correspond to the previous image of globulomaxillary cysts, do still occur in daily practice. This raises the question to which entities pathological processes in this particular region actually belong to. In a retrospective study, 17 cases (12 men and 5 women, 12-59 years old) of primarily diagnosed globulomaxillary cysts are analysed according to clinical, radiological and histological aspects, catamnestic processed and assigned to a new entity. The results are compared with the international literature and draws conclusions on the diagnostic and therapeutic procedure. Seven lateral periodontal cysts, four radicular cysts, two keratocystic odontogenic tumours, one adenomatoid odontogenic tumour, one periapical granuloma, one residual cyst and one undefined jaw cyst were determined. According to the results of our study and the data from the international literature, the entity globulomaxillary cyst is no longer justified.

Resource utilization in primary repair of cleft palate.

PubMed

Owusu, James A; Liu, Meixia; Sidman, James D; Scott, Andrew R

2013-03-01

To estimate the current incidence of cleft palate in the United States and to determine national variations in resource utilization for primary repair of cleft palate. Retrospective analysis of a national, pediatric database (2009 Kids Inpatient Database). Patients aged 3 and below admitted for cleft palate repair were selected, using ICD-9 codes for cleft palate and procedure code for primary (initial) repair of cleft palate. A number of demographic variables were analyzed, and hospital charges were considered as a measure of resource utilization. Primary repair of cleft palate was performed on 1,943 patients. The estimated incidence was 0.11% with male to female ratio of 1.2:1. Regional incidence ranged from 0.09% (Northeast) to 0.12% (Midwest). The mean age at surgery was 13.4 months. The average length of stay was 1.9 days. The average total charge nationwide was $22,982, ranging from $17,972 (South) to $25,671 (Northeast). Average charge in a teaching institution was $4,925 higher than for nonteaching institutions. The strongest predictor of charge was length of stay, increasing charge by $7,663 for every additional hospital day (P < 0.01). National variations exist in resource utilization for primary repair of cleft palate, with higher charges in Northeastern states and teaching hospitals. The strongest predictor of increased resource use was length of stay, which was significantly higher at teaching institutions. Copyright © 2012 The American Laryngological, Rhinological, and Otological Society, Inc.

Cervical vertebral maturation of female children with orofacial clefts.

PubMed

Sun, Ling; Li, Wei Ran

2013-09-01

Objective : To evaluate the skeletal maturation of girls with orofacial clefts using the cervical vertebral maturation method. Design : Case-control study. Setting : The School of Stomatology, Peking University. Patients : A total of 173 girls with cleft lip and/or palate from 8 to 16 years old were compared with 1038 age-matched girls without clefts. Results : In the 8- to 9-year-olds, most of the girls from both groups were in cervical stage 1. In the 14- to 15-year-olds and 15- to 16-year-olds, almost all the girls from both groups were in cervical stages 5 and 6, and most of the 15- to 16-year-old girls were in cervical stage 6. Differences existed in each year for 9- to 14-year-olds, which was confirmed by statistical analysis. After ordinal logistical regression of data from girls 9 to 14 years of age, girls of the same age in the non-cleft lip and/or palate group were associated with 1.559 times the odds of having achieved higher cervical stages than those in the cleft lip and/or palate group. Most girls without cleft lip and/or palate were in cervical stages 3 and 4 in the 11- to 12-year-olds; whereas, it was not so obvious in the girls with cleft lip and/or palate. By the age of 12, girls with cleft lip and/or palate had 2.667 times the risk of delayed cervical stage 3, and the 95% confidence interval for the odds ratio was 1.013 to 7.019. Conclusions : Girls with cleft lip and/or palate are at a higher risk of delayed pubertal growth.

Non-infected and Infected Bronchogenic Cyst: The Correlation of Image Findings with Cyst Content

PubMed Central

Jeon, Hong Gil; Park, Ju Hwan; Park, Hye Min; Kwon, Woon Jung; Cha, Hee Jeong; Lee, Young Jik; Park, Chang Ryul; Jegal, Yangjin; Ahn, Jong-Joon

2014-01-01

We hereby report a case on bronchogenic cyst which is initially non-infected, then becomes infected after bronchoscopic ultrasound (US)-guided transesophageal fine-needle aspiration (FNA). The non-infected bronchogenic cyst appears to be filled with relatively echogenic materials on US, and the aspirate is a whitish jelly-like fluid. Upon contrast-enhanced MRI of the infected bronchogenic cyst, a T1-weighted image shows low signal intensity and a T2-weighted image shows high signal intensity, with no enhancements of the cyst contents, but enhancements of the thickened cystic wall. The patient then undergo video-assisted thoracic surgery 14 days after the FNA. The cystic mass is known to be completely removed, and the aspirate is yellowish and purulent. To understand the image findings that pertain to the gross appearance of the cyst contents will help to diagnose bronchogenic cysts in the future. PMID:24624219

Dental Care for a Child with Cleft Lip and Palate

MedlinePlus

... Donor Spotlight Fundraising Ideas Vehicle Donation Volunteer Efforts Dental Care for a Child with Cleft Lip and ... submenu What We Do Cleft & Craniofacial Educational Materials Dental Care for a Child with Cleft Lip and ...

Smile Train: The ascendancy of cleft care in India

PubMed Central

Singh, Subodh Kumar

2009-01-01

Though India has an estimated population of one million untreated cleft patients, facilities for its treatment have been limited and are not evenly distributed across the country. Furthermore, a paucity of committed cleft surgeons in fewer hospitals to provide quality surgical treatment to these patients, poverty, illiteracy, superstitions and poor connectivity in some remote regions severely limit the chances of an average cleft lip patient born in India from receiving rational and effective comprehensive treatment for his/her malady. The Smile Train Project with its singular focus on cleft patients started its philanthropic activities in India in the year 2000. It made hospitals and included clefts surgeon equal partners in this programme and helped them treat as many cleft patients as they possibly could. The Project encouraged improvement of the training and infrastructure in various centres across the length and breadth of the region. The Project received an unprecedented success in terms of growth of number of centres, cleft surgeons and quantum of cleft patients reporting for treatment. The G S Memorial Hospital is one such partner hospital. It started innovative outreach programmes and took a holistic view of the needs of these patients and their families. With the support of the Smile Train, it has not only succeeded in providing treatment to more than 14,500 patients in 5 years, but has also devised innovative outreach programmes and seamlessly incorporated salient changes in the hospital system to suit the needs of the target population. PMID:19884676

Surgery for cleft palate and velopharyngeal dysfunction.

PubMed

Pearson, Gregory D; Kirschner, Richard E

2011-05-01

Cleft palate is a common congenital anomaly that, if left untreated, results in subsequent velopharyngeal dysfunction. After surgical repair of the palatal cleft, patients must be monitored clinically for any postoperative velopharyngeal dysfunction. If this sequela develops, patients must be evaluated in a multidisciplinary manner with diagnostic procedures performed and individualized care plans made prior to embarking upon surgery for velopharyngeal dysfunction. This article discusses surgical management of patients with cleft palate as well as the proper workup and management of postoperative velopharyngeal dysfunction. © Thieme Medical Publishers.

Branchial lesions associated with abundant apoptotic cells in oysters Ostrea edulis of Galicia (NW Spain).

PubMed

Mirella da Silva, P; Villalba, Antonio; Sunila, Inke

2006-06-12

An experiment to evaluate differences in growth, mortality and disease susceptibility among Ostrea edulis stocks was performed. Five families were produced from each of 4 oyster populations (Irish, Greek and 2 Galician). The spat were transferred to a raft in the Ria de Arousa (Galicia, Spain) for grow-out. Monthly samples of each family were histologically processed from 2001 to 2003. One of the pathological conditions discovered by this study was the occurrence of extensive branchial lesions characterized by haemocytic infiltration and loss of branchial architecture. Furthermore, abundant atypical cells occurred among the haemocytes in the lesions in the branchial connective and epithelial tissues, but rarely in the mantle. These cells were contracted in size with nuclei showing chromatin condensation and fragmentation. Some nuclear chromatin aggregated under the nuclear membranes into crescent shapes, whereas others were uniformly dense. Those characteristics suggested that the cells were apoptotic haemocytes, which was confirmed by transmission electron microscopy (TEM) and by a terminal deoxynucleotidyl transferase (TdT)-mediated dUTP nick end labelling (TUNEL) assay using the Apoptag Kit on paraffin sections. A low prevalence of gill lesions was detected in some, but not all, families of every origin peaking in July 2002 and April 2003. No etiologic agent was identified by either histology or TEM; thus, the cause of the abundance of apoptotic cells remains unclear.

Unfavourable results in the repair of the cleft lip

PubMed Central

Narayanan, Puthucode V.; Adenwalla, Hirji Sorab

2013-01-01

Introduction: Unfavorable results in unilateral and bilateral cleft lip repair are often easy to spot but not always easy to prevent as to treat. We have tried to deal with the more common problems and explain possible causes and the best possible management options from our experience. Unilateral cleft lip repair: Unfavorable results immediately after repair involve Dehiscence and Scaring. Delayed blemishes include vermillion notching, a short lip, deficiency in the height of the lateral vermillion on the cleft side, white roll malalignment, oro-vestibular fistula, the cleft lip nose deformity, a narrow nostril and a “high-riding” nostril. We analyze the causes of these blemishes and outline our views regarding the treatment of these. Bilateral cleft lip: Immediate problems again include dehiscence as also loss of prolabium or premaxilla. Delayed unfavorable results are central vermillion deficiency, a lip that is too tight, bilateral cleft lip nose deformity, problems with the premaxilla and maxillary growth disturbances. Here again we discuss the causation of these problems and our preferred methods of treatment. Conclusion: We have detailed the significant unfavorable results after unilateral and bilateral cleft lip surgery. The methods of treatment advocated have been layer from our own experience. PMID:24501453

Morphological evaluation of clefts of the lip, palate, or both in dogs.

PubMed

Peralta, Santiago; Fiani, Nadine; Kan-Rohrer, Kimi H; Verstraete, Frank J M

2017-08-01

OBJECTIVE To systematically characterize the morphology of cleft lip, cleft palate, and cleft lip and palate in dogs. ANIMALS 32 client-owned dogs with clefts of the lip (n = 5), palate (23), or both (4) that had undergone a CT or cone-beam CT scan of the head prior to any surgical procedures involving the oral cavity or face. PROCEDURES Dog signalment and skull type were recorded. The anatomic form of each defect was characterized by use of a widely used human oral-cleft classification system on the basis of CT findings and clinical images. Other defect morphological features, including shape, relative size, facial symmetry, and vomer involvement, were also recorded. RESULTS 9 anatomic forms of cleft were identified. Two anatomic forms were identified in the 23 dogs with cleft palate, in which differences in defect shape and size as well as vomer abnormalities were also evident. Seven anatomic forms were observed in 9 dogs with cleft lip or cleft lip and palate, and most of these dogs had incisive bone abnormalities and facial asymmetry. CONCLUSIONS AND CLINICAL RELEVANCE The morphological features of congenitally acquired cleft lip, cleft palate, and cleft lip and palate were complex and varied among dogs. The features identified here may be useful for surgical planning, developing of clinical coding schemes, or informing genetic, embryological, or clinical research into birth defects in dogs and other species.

[Use of Airwayscope with pediatric intlock in a patient with first and second branchial arch syndrome].

PubMed

Kubota, Aiko; Takeda, Akiko; Arai, Toshimi; Murozono, Michihiro

2013-12-01

First and second branchial arch syndrome is a congenital anomaly of craniofacial dysplasia involving organs derived from the second branchial arch. The main characteristics are microtia and mandibular hypoplasia. A 6-year-old boy was scheduled for adenoidectomy and bilateral myringotomy and tube placement. Slow induction was performed with oxygen, nitrous oxide, and sevoflurane. No difficulties were encountered during mask ventilation, and rocuronium was administered intravenously. His epiglottis was not visible during laryngoscopy. Therefore, we used the Airwayscope (AWS). His glottis was visible after application of cricold pressure from the left side. However, we could not closely conform his epiglottis to the mark on the AWS. Therefore, we passed a fiberoptic bronchoscope through a tracheal tube and placed it in the AWS. We attempted to intubate the trachea, but could not guide the bronchoscope to his glottis. We then attempted to pull the tracheal tube to improve the mobility of the bronchoscope. Control of the bronchoscope consequently became easy We successfully guided it to his glottis and performed tracheal intubation. His condition was stable during the procedure. In conclusion, we safely performed tracheal intubation in a patient with first and second branchial arch syndrome using the AWS and a fiberoptic bronchoscope.

Two developmentally temporal quantitative trait loci underlie convergent evolution of increased branchial bone length in sticklebacks

PubMed Central

Erickson, Priscilla A.; Glazer, Andrew M.; Cleves, Phillip A.; Smith, Alyson S.; Miller, Craig T.

2014-01-01

In convergent evolution, similar phenotypes evolve repeatedly in independent populations, often reflecting adaptation to similar environments. Understanding whether convergent evolution proceeds via similar or different genetic and developmental mechanisms offers insight towards the repeatability and predictability of evolution. Oceanic populations of threespine stickleback fish, Gasterosteus aculeatus, have repeatedly colonized countless freshwater lakes and streams, where new diets lead to morphological adaptations related to feeding. Here, we show that heritable increases in branchial bone length have convergently evolved in two independently derived freshwater stickleback populations. In both populations, an increased bone growth rate in juveniles underlies the convergent adult phenotype, and one population also has a longer cartilage template. Using F2 crosses from these two freshwater populations, we show that two quantitative trait loci (QTL) control branchial bone length at distinct points in development. In both populations, a QTL on chromosome 21 controls bone length throughout juvenile development, and a QTL on chromosome 4 controls bone length only in adults. In addition to these similar developmental profiles, these QTL show similar chromosomal locations in both populations. Our results suggest that sticklebacks have convergently evolved longer branchial bones using similar genetic and developmental programmes in two independently derived populations. PMID:24966315

[Arachnoid cysts: Embriology and pathology].

PubMed

García-Conde, Mario; Martín-Viota, Lucia

2015-01-01

There is still great controversy surrounding the origin of the arachnoid cyst. The most accepted theory in the case of congenital cysts explains how they are formed from an anomalous development of the arachnoid membrane, which is unfolded allowing the accumulation of cerebrospinal fluid inside and creating a cyst. This theory seems to explain the origin of convexity and sylvian cistern arachnoid cysts, whereas those in other locations might be due to other mechanisms. In the anatomopathological analysis, the arachnoid cyst wall can be seen as having few differences from normal, although thickened due to an increase quantity of collagenous material. A description of the embryological development of the arachnoid layer and cyst formation is presented, describing the main anatomopathological findings. Copyright © 2015 Sociedad Española de Neurocirugía. Published by Elsevier España. All rights reserved.

Hospital care of children with a cleft in England

PubMed Central

Fitzsimons, Kate J; Copley, Lynn P; Deacon, Scott A; van der Meulen, Jan H

2013-01-01

Objective To analyse hospital admissions in the first 2 years of life among children with cleft lip and/or palate in England. Design Analysis of national administrative data of hospital admissions. Setting National Health Service hospitals. Patients Patients born alive between 1997 and 2008 who underwent surgical cleft repair. Outcome measures Number of admissions, including the birth episode, and days spent in hospital were examined. Children were analysed according to cleft type and whether or not they had additional congenital anomalies. Results 10 892 children were included. In their first 2 years, children without additional anomalies (n=8482) had on average 3.2 admissions and 13.2 days in hospital, which varied from 2.6 admissions and 9.2 days with cleft lip to 4.7 admissions and 19.7 days with bilateral cleft lip and palate (BCLP). Children with additional anomalies (n=2410) had on average 6.7 admissions and 51.4 days in hospital, which varied from 6.4 admissions and 48.5 days with cleft palate to 8.8 admissions and 67.5 days with BCLP. The mean number and duration of cleft-related admissions was similar in children without (1.6 admissions and 6.4 days) and in those with additional anomalies (1.5 admissions and 8.5 days). 35.2% of children without additional anomalies had at least one emergency admission, whereas the corresponding figure was 67.3% with additional anomalies. Conclusions The burden of hospital care in the first 2 years of life varied according to cleft type and presence of additional anomalies. However, cleft-specific hospital care did not differ between children with and without additional anomalies. PMID:23968774

Self concept of the cleft lip and or palate child.

PubMed

Kapp, K

1979-04-01

This investigation examined the relationship of the self-concept of children with cleft lip and/or palate to the self-concept of noncleft children. Thirty-four cleft lip and/or palate children between the ages of 11 and 13 were individually matched with thirty-four noncleft school children. Each child was given the Piers-Harris Children's Self Concept Scale. Children with clefts, regardless of sex, reported a significantly greater dissatisfaction with physical appearance. A significant interaction effect between sex and presence or absence of cleft was found on three cluster scores with cleft girls reporting greater unhappiness and dissatisfaction, less success in school, and more anxiety.

The characteristics and distribution of dental anomalies in patients with cleft.

PubMed

Wu, Ting-Ting; Chen, Philip K T; Lo, Lun-Jou; Cheng, Min-Chi; Ko, Ellen Wen-Ching

2011-01-01

Dental anomalies associated with different severities of cleft lip and palate have been rarely reported. This retrospective study investigates the characteristics of dental anomalies associated with different types of cleft, and compares the dental anomaly traits based on sex and severity of cleft. Cleft patients born in 1995 with qualified diagnostic records from 7 to 11 years were included for evaluation. Records were retrieved from database of Chang Gung Craniofacial Center, including panoramic radiographs and intraoral photographs. In total, 196 patients with complete records were included in the evaluation. This study compares the dental anomalies associated with each type of cleft. The frequency of dental anomalies in the maxillary incisor area in the cleft palate (CP) group (20%) was significantly lower than that in other groups. The frequency of missing maxillary lateral incisors (MLIs) increased as the cleft severity increased. Supernumerary teeth and missing lower incisors exhibited the opposite trend. No sexual dimorphism appeared in terms of the frequencies of peg laterals and missing MLIs. The distribution patterns of missing MLIs and peg laterals in males, but not in females, were consistent for the three types of unilateral clefts. Regarding the characteristics of dental anomalies among the three unilateral clefts, missing MLIs, supernumerary teeth, and missing lower incisors were found to be related to cleft severity. The maxillary lateral incisor was the most affected tooth in the cleft area. The frequency of missing MLIs and peg laterals was not sexual dimorphic, but the distribution pattern was different between the sexes.

Oral Clefting in China Over the Last Decade: 205,679 Patients

PubMed Central

Kling, Rochelle R.; Taub, Peter J.; Ye, Xiaoqian

2014-01-01

Background: China is the most populated country and has one of the highest prevalences of oral clefting. The present study reports the epidemiology and surgical procedures performed on the largest reported cohort of individuals with clefting in China. Methods: A retrospective review of patients who received cleft repair through Smile Train in China from 2000 to 2011 was conducted. Data on demographics, cleft characteristics, associated malformations, pregnancy and family history, and surgical technique were analyzed using SPSS (IBM, Chicago, Ill.). Results: A total of 205,679 patients underwent 209,169 cleft procedures. Cleft lip and palate (42.7%) was most common followed by isolated cleft palate (32.4%) and isolated cleft lip (24.9%). Males accounted for 63.5% of cases. The average age at initial surgery was 6.12 years. By 2011, this decreased to 1.8 years of age for lip repair and to 5.9 years of age for palate repair. The preferred techniques were rotation-advancement (55%) for unilateral lip repair and Von-Langenbeck (38%) and pushback (39%) for palate repair. The percentages of cases with associated anomalies and surgical complications were 12.8% and 0.36%, respectively. Conclusions: This study provides insight into cleft care in China as it reports the largest cohort of cleft patients treated by surgeons to date. Our results generally follow trends previously reported in China and developed countries. The male:female ratio for cleft palate patients was higher than expected. The average age at primary repair is higher than recommended, but seems to be decreasing. PMID:25426353

Oral clefting in china over the last decade: 205,679 patients.

PubMed

Kling, Rochelle R; Taub, Peter J; Ye, Xiaoqian; Jabs, Ethylin Wang

2014-10-01

China is the most populated country and has one of the highest prevalences of oral clefting. The present study reports the epidemiology and surgical procedures performed on the largest reported cohort of individuals with clefting in China. A retrospective review of patients who received cleft repair through Smile Train in China from 2000 to 2011 was conducted. Data on demographics, cleft characteristics, associated malformations, pregnancy and family history, and surgical technique were analyzed using SPSS (IBM, Chicago, Ill.). A total of 205,679 patients underwent 209,169 cleft procedures. Cleft lip and palate (42.7%) was most common followed by isolated cleft palate (32.4%) and isolated cleft lip (24.9%). Males accounted for 63.5% of cases. The average age at initial surgery was 6.12 years. By 2011, this decreased to 1.8 years of age for lip repair and to 5.9 years of age for palate repair. The preferred techniques were rotation-advancement (55%) for unilateral lip repair and Von-Langenbeck (38%) and pushback (39%) for palate repair. The percentages of cases with associated anomalies and surgical complications were 12.8% and 0.36%, respectively. This study provides insight into cleft care in China as it reports the largest cohort of cleft patients treated by surgeons to date. Our results generally follow trends previously reported in China and developed countries. The male:female ratio for cleft palate patients was higher than expected. The average age at primary repair is higher than recommended, but seems to be decreasing.

Teaching Palatoplasty Using a High-Fidelity Cleft Palate Simulator.

PubMed

Cheng, Homan; Podolsky, Dale J; Fisher, David M; Wong, Karen W; Lorenz, H Peter; Khosla, Rohit K; Drake, James M; Forrest, Christopher R

2018-01-01

Cleft palate repair is a challenging procedure for cleft surgeons to teach. A novel high-fidelity cleft palate simulator has been described for surgeon training. This study evaluates the simulator's effect on surgeon procedural confidence and palatoplasty knowledge among learners. Plastic surgery trainees attended a palatoplasty workshop consisting of a didactic session on cleft palate anatomy and repair followed by a simulation session. Participants completed a procedural confidence questionnaire and palatoplasty knowledge test immediately before and after the workshop. All participants reported significantly higher procedural confidence following the workshop (p < 0.05). Those with cleft palate surgery experience had higher procedural confidence before (p < 0.001) and after (p < 0.001) the session. Palatoplasty knowledge test scores increased in 90 percent of participants. The mean baseline test score was 28 ± 10.89 percent and 43 ± 18.86 percent following the workshop. Those with prior cleft palate experience did not have higher mean baseline test scores than those with no experience (30 percent versus 28 percent; p > 0.05), but did have significantly higher scores after the workshop (61 percent versus 35 percent; p < 0.05). All trainees strongly agreed or agreed that the simulator should be integrated into training and they would use it again. This study demonstrates the effective use of a novel cleft palate simulator as a training tool to teach palatoplasty. Improved procedural confidence and knowledge were observed after a single session, with benefits seen among trainees both with and without previous cleft experience.

Dental Anomalies in a Brazilian Cleft Population.

PubMed

Sá, Jamile; Mariano, Lorena C; Canguçu, Daiane; Coutinho, Thaynara S L; Hoshi, Ryuichi; Medrado, Alena Peixoto; Martelli-Junior, Hercílio; Coletta, Ricardo D; Reis, Silvia R A

2016-11-01

  The aim of this study was to radiographically investigate the prevalence of dental anomalies outside the cleft area in a group of Brazilian patients with nonsyndromic cleft lip and/or palate (NSCL/P).   A retrospective analysis of 207 panoramic radiographs of patients with NSCL/P aged 12 to 45 years without history of tooth extraction and orthodontic treatment was performed.   Dental anomalies were found in 75.4% of the patients, and tooth agenesis (29.2%) and supernumerary tooth (2.6%) were the most common anomalies. The risk of agenesis was higher among the individuals with cleft palate (CP) compared with individuals with cleft lip (CL) and cleft lip and palate (CLP) (agenesis: CP versus CL: odds ratio 6.27, 95% confidence interval 2.21-17.8, P = .0003; CP versus CLP: odds ratio 2.94; 95% confidence interval 1.27-6.81, P = .01). The frequency of dental agenesis was higher in patients with unilateral complete CLP (agenesis: P < .0001), incomplete bilateral CLP (agenesis: P = .0013), complete CP (agenesis: P < .0001), and incomplete CP (agenesis: P < .0001). The frequency of supernumerary teeth was higher in patients with bilateral complete CLP (P < .0001). The frequency of dental agenesis (P < .0001) and ectopic tooth (P = .009) was higher than the frequency estimated for general population.   The prevalence of dental anomalies in patients with NSCL/P was higher than that reported in overall population. This study found preferential associations between dental anomalies and specific extensions of NSCL/P, suggesting that dental agenesis and ectopic tooth may be part of oral cleft subphenotypes.

Cleft palate repair and variations

PubMed Central

Agrawal, Karoon

2009-01-01

Cleft palate affects almost every function of the face except vision. Today a child born with cleft palate with or without cleft lip should not be considered as unfortunate, because surgical repair of cleft palate has reached a highly satisfactory level. However for an average cleft surgeon palatoplasty remains an enigma. The surgery differs from centre to centre and surgeon to surgeon. However there is general agreement that palatoplasty (soft palate at least) should be performed between 6-12 months of age. Basically there are three groups of palatoplasty techniques. One is for hard palate repair, second for soft palate repair and the third based on the surgical schedule. Hard palate repair techniques are Veau-Wardill-Kilner V-Y, von Langenbeck, two-flap, Aleveolar extension palatoplasty, vomer flap, raw area free palatoplasty etc. The soft palate techniques are intravelar veloplasty, double opposing Z-plasty, radical muscle dissection, primary pharyngeal flap etc. And the protocol based techniques are Schweckendiek's, Malek's, whole in one, modified schedule with palatoplasty before lip repair etc. One should also know the effect of each technique on maxillofacial growth and speech. The ideal technique of palatoplasty is the one which gives perfect speech without affecting the maxillofacial growth and hearing. The techniques are still evolving because we are yet to design an ideal one. It is always good to know all the techniques and variations so that one can choose whichever gives the best result in one's hands. A large number of techniques are available in literature, and also every surgeon incorporates his own modification to make it a variation. However there are some basic techniques, which are described in details which are used in various centres. Some of the important variations are also described. PMID:19884664

Intramedullary cyst formation after removal of multiple intradural spinal arachnoid cysts: A case report

PubMed Central

Zekaj, Edvin; Saleh, Christian; Servello, Domenico

2016-01-01

Background: A rare cause of spinal cord compression is spinal arachnoid cysts. Symptoms are caused by spinal cord compression, however, asymptomatic patients have been also reported. Treatment options depend upon symptom severity and clinical course. Case Description: We report the case of a 47-year-old patient who developed an intramedullary arachnoid cyst after removal of an intradural extramedullary cyst. Conclusion: Surgery should be considered early in a symptomatic disease course. Longstanding medullary compression may reduce the possibility of neurological recovery as well as secondary complications such as intramedullary cyst formation. PMID:27512608

Facial clefts and facial dysplasia: revisiting the classification.

PubMed

Mazzola, Riccardo F; Mazzola, Isabella C

2014-01-01

Most craniofacial malformations are identified by their appearance. The majority of the classification systems are mainly clinical or anatomical, not related to the different levels of development of the malformation, and underlying pathology is usually not taken into consideration. In 1976, Tessier first emphasized the relationship between soft tissues and the underlying bone stating that "a fissure of the soft tissue corresponds, as a general rule, with a cleft of the bony structure". He introduced a cleft numbering system around the orbit from 0 to 14 depending on its relationship to the zero line (ie, the vertical midline cleft of the face). The classification, easy to understand, became widely accepted because the recording of the malformations was simple and communication between observers facilitated. It represented a great breakthrough in identifying craniofacial malformations, named clefts by him. In the present paper, the embryological-based classification of craniofacial malformations, proposed in 1983 and in 1990 by us, has been revisited. Its aim was to clarify some unanswered questions regarding apparently atypical or bizarre anomalies and to establish as much as possible the moment when this event occurred. In our opinion, this classification system may well integrate the one proposed by Tessier and tries at the same time to find a correlation between clinical observation and morphogenesis.Terminology is important. The overused term cleft should be reserved to true clefts only, developed from disturbances in the union of the embryonic facial processes, between the lateronasal and maxillary process (or oro-naso-ocular cleft); between the medionasal and maxillary process (or cleft of the lip); between the maxillary processes (or cleft of the palate); and between the maxillary and mandibular process (or macrostomia).For the other types of defects, derived from alteration of bone production centers, the word dysplasia should be used instead. Facial

Update on pancreatic cyst fluid analysis

PubMed Central

Rockacy, Matthew; Khalid, Asif

2013-01-01

Pancreatic cystic lesions (PCL) may be incidentally detected in up to 13.5% of patients. These represent a wide variety of lesions including mucinous cysts [intraductal papillary mucinous neoplasms (IPMN) and mucinous cystic neoplasms (MCN)] that have malignant potential. The difficulty in identifying the various PCL and their unpredictable potential for malignant degeneration makes their management cumbersome. The current diagnostic evaluation of PCL often includes EUS-guided fine needle aspiration (EUS-FNA) for cyst fluid analysis. Cyst fluid can be analyzed for tumor markers, cytology, mucins, DNA analysis and amylase. Pancreatic cyst CEA level is considered the most accurate tumor marker for diagnosing mucinous cysts. Approximately 0.2 to 1.0 mL of cyst fluid is required to run the test and a cut-off of 192 ng/ mL can be expected to capture ~75% of mucinous cysts. The presence of a KRAS mutation is very specific for a mucinous cyst but lacks sensitivity. Cytology is especially helpful in diagnosing malignancy typically in the presence of a solid component in the cyst. Newer markers to improve diagnostic accuracy are on the horizon, but clinical studies are awaited. PMID:24714589

Cyclin d1 expression in odontogenic cysts.

PubMed