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Second premolar agenesis is associated with mandibular form： a geometric morphometric analysis of mandibular cross-sections

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International Journal of Oral Science 2016年第4期8卷 254-260页

作者： Michael H Bertl Kristina Bertl Manuel Wagner Andre Gahleitner Andreas Stavropoulos Christian Ulm Philipp Mitteroecker Division of Orthodontics School of Dentistry Medical University of Vienna Vienna Austria Department of Periodontology Faculty of Odontology University of Malmo MalmoSweden Division of Oral Surgery School of Dentistry Medical University of Vienna Vienna Austria Department of Diagnostic Radiology Division of Osteoradiology General Hospital Medical University of Vienna Vienna Austria Department of Theoretical Biology University of Vienna Vienna Austria

The aim of this study was to compare mandibular form （i.e., size and shape） between patients with agenesis of the lower second premolar （P2） and a control group with no agenesis. Three hypotheses were tested：（H1） agenesis causes a change in mandibular morphology because of inadequate alveolar ridge development in the area of the missing tooth （mandibular plasticity）; （H2） agenesis is caused by spatial limitations within the mandible （dental plasticity）; and （H3） common genetic/ epigenetic factors cause agenesis and affect mandibular form （pleiotropy）. A geometric morphometric analysis was applied to cross-sectional images of computed tomography （CT） scans of three matched groups （n= 50 each）：（1） regularly erupted P2; （2） agenesis of P2 and the primary second molar in situ; and （3） agenesis of P2 and the primary second molar missing for 〉3 months. Cross-sections of the three areas of interest （first premolar, P2, first molar） were digitized with 23 landmarks and superimposed by a generalized Procrustes analysis. On average, the mandibular cross-sections were narrower and shorter in patients with P2 agenesis compared with that in the control group. Both agenesis groups featured a pronounced submandibular fossa. These differences extended at least one tooth beyond the agenesis-affected region. Taken together with the large interindividual variation that resulted in massively overlapping group distributions, these findings support genetic and/or epigenetic pleiotropy （H3） as the most likely origin of the observed covariation between mandibular form and odontogenesis. Clinically, reduced dimensions and greater variability of mandibular form, as well as a pronounced submandibular fossa, should be expected during the treatment planning of patients with P2 agenesis.

关键词： agenesis cross-sections geometric morphometrics mandibular form

Unilateral congenital scrotal agenesis with ipsilateral cryptorchidism: A case report

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World Journal of Clinical Cases 2019年第22期7卷 3807-3811页

作者： Yong Fang Juan Lin Wen-Wei Wang Jun Qiu Yi Xie Li-Ping Sang Jia-Cong Mo Jun-Hang Luo Jin-Huan Wei Department of Urology First Affiliated Hospital of Sun Yat-sen UniversityGuangzhou 510080Guangdong ProvinceChina Department of Pediatrics Third Affiliated Hospital of Sun Yat-sen UniversityGuangzhou 510630Guangdong ProvinceChina

BACKGROUND Congenital scrotal agenesis(CSA)is very *** are 11 cases of congenital scrotal agenesis or absence reported in the literature,most of which are bilateral and accompanied by *** two cases of which are unilateral scrotal agenesis and not accompanied by *** is the first reported case of unilateral scrotal agenesis with cryptorchidism and *** SUMMARY A 2-year-old boy was admitted to our hospital with left cryptorchidism and ipsilateral *** innovative method was used in the patient where a scrotal skin pedicle from the right part of scrotal skin was transplanted to the left *** the same time,descent orchiopexy was *** the 4-mo follow-up,the left testicle was located in the scrotum and the size and shape were *** For unilateral CSA with ipsilateral cryptorchidism,contralateral scrotal pedicle transplantation and descent orchiopexy appear to be a successful surgical option.

关键词： Unilateral congenital scrotal agenesis Contralateral scrotal pedicletransplantation Cryptorchidism Case report

Mullerian agenesis in One of the Non-Identical Twins: A Case Report and Literature Review

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Yangtze Medicine 2018年第2期2卷 82-88页

作者： Shweta Thapa K. C. Cunjian Yi Department of Gynecology and Obstetrics 1st Clinical Medical School of Yangtze University Jingzhou China

Mullerin agenesis also referred as mullerian aplasia, Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) or vaginal agenesis is the congenital anomaly of vertical fusion defect of mullerian system resulting in variable abnormalities of female reproductive tract with normal functioning ovaries. It is second most common cause of primary amenorrhea after gonadal agenesis. The occurrence of mullerian agenesis in twins is very rare. We present the case of one of the non-identical twins, 22 years female, with primary amenorrhea. Her elder twin sister had a normal female reproductive system. In our case, diagnosis was supported by presence of definitive primary amenorrhea with well-developed secondary sexual characteristics. Normal physiological hormonal levels ruled out the ovarian or pituitary pathology. Imaging studies like ultrasonography and magnetic resonance imaging (MRI) provided additional confirmation.

关键词： Mullerian agenesis Primary Amenorrhea Twins

Right Testicle Ectopy Associated with Left Renal agenesis

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Surgical Science 2019年第7期10卷 217-221页

作者： Mamadou Tidiani Coulibaly Ousmane Koné Moumine Zié Diarra Amadou Berthé Lahassana Coulibaly Zanafon Ouattara Urologist at the Gabriel Touré University Hospital Centre Bamako Mali

Testicular ectopia is a rare genital malformation belonging to the spectrum of testicular migration abnormalities. Renal agenesis can be unilateral or bilateral, isolated or associated with other malformations (1/4 of renal agenesis is accompanied by genital malformations, and more often affects the left kidney. Few cases are reported in the literature. We report a case in a 28-year-old patient with ectopia of the right testicle in the suprapubic position associated with agenesis of the left kidney, and surgical management consisted of an orchiectomy, with good surgical results.

关键词： Testis agenesis Kidney Migration

Hyperhidrosis of Central Hypogonadism Leading to Diagnosis of Shapiro Syndrome: Temperature Dysregulation, Hypothermia and agenesis of the Corpus Callosum

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Open Journal of Endocrine and Metabolic Diseases 2019年第1期9卷 1-7页

作者： Megan A. Traxinger Emily A. Beckett Dana Danley Udaya M. Kabadi Broadlawns Medical Center Des Moines USA University of Iowa Iowa City USA

Background: Central or hypothalamic hypogonadism as an initial manifestation of Shapiro Syndrome has not been described in the literature. Herein, we report first case in which initial presentation of central hypogonadism led to a confirmed diagnosis of Shapiro Syndrome during a casual evaluation of hypothalamic pituitary anatomy with MRI of brain. Case presentation: 53 year old Caucasian man was documented to manifest Central or hypogonadotropic hypogonadism following evaluation of excessive sweating episodes, lack of libido and erectile dysfunction for a duration of several years. Brain MRI performed for assessment of the etiology documented no pituitary abnormality. Instead agenesis of Corpus Callosum was noted. The subject had been hospitalized on many occasions at this and several other medical centers with hypothermia or hyperthermia without a documentation of a definite cause. Therefore, the diagnosis of Shapiro Syndrome was made. Conclusion: This report is the first documentation of subject manifesting central, more likely to be hypothalamic rather than hypogonadotropic hypogonadism in conjunction with Shapiro Syndrome.

关键词： Hyperhidrosis Central Hypogonadism Temperature Dysregulation Callosal agenesis Shapiro Syndrome

Incidental Discovery of Sphenoid Sinuses agenesis: A Report of Two Cases in Benin, West Africa

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Advances in Molecular Imaging 2019年第1期9卷 1-5页

作者： Djivèdé Akanni Charles Agossou Eulalie Sansuamou Fatiou Bouraï ma Patricia Yèkpè Kofi-Mensa Savi de Tovè Olivier Biaou Vicentia Boco Faculty of Medicine University of Parakou Parakou Benin Department of Radiology University Teaching Hospital of Borgou Department Parakou Benin Faculty of Health Sciences University of Abomey Calavi Cotonou Benin Department of Radiology National and University Teaching Hospital Hubert Koutoukou Maga Cotonou Benin Department of Otorhinolaryngology University Teaching Hospital of Borgou Department Parakou Benin

Sphenoid sinuses are carved into the body of the sphenoid bone. They are probably the most variably pneumatized structures of the skull. They begin their pneumatization at the age of three and finished at adolescence. Several anatomic variants of sphenoid sinuses have been described in the literature. The agenesis of sphenoid sinuses in adults is very rarely found. We report two incidental cases of sphenoid sinuses agenesis discovered on CT scan in Benin, West Africa.

关键词： Sphenoid agenesis CT-Scan Benin

Reconstructive surgical management of cryptomenorrhoea because of complete vaginal agenesis

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Open Journal of Obstetrics and Gynecology 2011年第4期1卷 243-245页

作者： Krishna Dahiya Ranjita Bains 不详

Background: The Vagina is a composite structure formed partly from the mullerian duct and partly from urogential sinus. Most of the patients with mullerian agenesis have small rudimentary uterus without any endometrial cavity, 7% - 8% may have functioning uterus. Case: A 15 years old girl admitted with primary amenorrhea, cyclical abdominal pain, hematometra and complete vaginal agenesis. Surgical correction is the mainstay of treatment in patients with functioning uterus and absent vagina. Vaginoplasty was done to reconstruct a neovagina using amnion graft and establish uterovaginal continuity. In this case we have used only perineal approach to dissect the neovagina and identify the cervix with formation of a patent drainage tract and adequate vaginal length of 9 cm. Conclusion: In rare cases of obstructed functioning uterus by complete vaginal agenesis, vaginoplasty effectively restores anatomy and function by an overall minimal operative morbidity. Human amnion provides excellent results in neovaginal reconstruction.

关键词： Vaginal agenesis Hematometra

Pentalogy of Cantrell with Sternum agenesis—A Case Report

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Open Journal of Thoracic Surgery 2020年第1期10卷 1-5页

作者： Elias Amorim Nilo Antunes Sousa Filho Petrucio Abrantes Sarmento Joseval Silva Lacerda Wildel Campos Ferreira Paulo Roberto Mocelin Antonio Vieira Dias Filho Victor Hugo Dorigo Castilho Joel Fernando Sodré Bayma Silva Rejane Albuquerque Camila Raposo Marineia Vale Thoracic Surgery Service of the Teaching Hospital of the Federal University of Maranhão Maranhão Brazil Thoracic Surgery Service of the Teaching Hospital of the Federal University of Paraiba Paraiba Brazil Cardiac Surgery Service of the Teaching Hospital of the Federal University of Maranhão Maranhão Brazil Plastic Surgery Service of the Teaching Hospital of the Federal University of Maranhão Maranhão Brazil Anesthesiology Service of the Teaching Hospital of the Federal University of Maranhão Maranhão Brazil Medical Student-Researcher of the Teaching Hospital of the Federal University of Maranhão Maranhão Brazil Intensive Therapy Service of the Teaching Hospital of the Federal University of Maranhão Maranhão Brazil

Introduction: Pentalogy of Cantrell is a rare disorder described by Cantrell in 1958 and characterized by heart anomalies, involving defects of the diaphragm, abdominal wall, supraumbilical region and pericardium. Methods: We report a case of the disease that presented with agenesis of the sternum and partial absence of costal cartilage, treated by a multi-disciplinary team. Results: The patient underwent median sternotomy. An enlarged heart, compromising the pulmonary trunk and the right ventricle, and a left superior vena cava were identified. The right atrium was opened and an interventricular communication of around 10 mm in diameter was seen through the tricuspid valve. Following the repair of the heart defects, chondroplasty and placement of biological mesh (Bioway of Gore) were performed. Conclusion: A Successful surgical treatment for Cantrell Syndrome includes correction of the cardiac malformation, a good repair of thoracoabdominal wall.

关键词： Pentalogy of Cantrell agenesis Diaphragm Pericardium

Giant mucinous cystic adenoma with pancreatic atrophy mimicking dorsal agenesis of the pancreas

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World Journal of Gastrointestinal Surgery 2014年第3期6卷 42-46页

作者： Johan Gagnière Aurélien Dupré David Da Ines Lucie Tixier Denis Pezet Emmanuel Buc Department of Digestive and Hepatobiliary Surgery Cen-tre Hospitalier Universitaire Estaing Department of Radiology Cen-tre Hospitalier Universitaire Estaing

Mucinous cystic adenoma(MCA) of the pancreas is a rare benign cystic tumor with ovarian-like stroma and lack of communication with the pancreatic ductal sys-tem. The ovarian tissue is incorporated from the left gonad within the dorsal pancreas during embryogen-esis. Consequently, congenital dorsal agenesis of the pancreas(DAP) cannot be associated with MCA. We report the case of a giant MCA associated with atro-phy of the dorsal pancreas mimicking complete DAP. Pancreato-magnetic resonance imaging failed to iden-tify the dorsal pancreas but the absence of diabetes mellitus and compression of the splenic vein with major tributaries rectified the diagnosis of secondary atrophy of the distal pancreas. Unusual proximal location of the cyst in the pancreas may have induced chronic obstruc-tion of both the dorsal pancreatic duct and the splenic vein, with secondary atrophy of the distal pancreas.

关键词： Dorsal agenesis Pancreas Cystic tumor Diabetes Surgery