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Inguinal syndrome

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https://www.readbyqxmd.com/read/28479975/penile-necrosis-secondary-to-purpura-fulminans-a-case-report-and-review-of-literature
#1
David B Hogarth, Paul M Cheon, Javeed Kassam, Alexander E Seal, Alexander G Kavanagh
We report the case of a 60-year-old Hispanic male with widespread necrotic purpuric lesions involving the penile, suprapubic, inguinal and hip dermis due to purpura fulminans. Purpura fulminans describes a rare syndrome involving intravascular thrombosis and hemorrhagic infarction of the skin; this rapidly progressing syndrome features vascular collapse and disseminated intravascular coagulation. This patient's penile necrosis involved the majority of the penile shaft and glans penis, and ultimately required partial glansectomy and repeated debridement for treatment...
February 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/28449295/kbg-syndrome-an-australian-experience
#2
Natalia Murray, Bronwyn Burgess, Robin Hay, Alison Colley, Sulekha Rajagopalan, Julie McGaughran, Chirag Patel, Annabelle Enriquez, Linda Goodwin, Zornitza Stark, Tiong Tan, Meredith Wilson, Tony Roscioli, Mustafa Tekin, Himanshu Goel
In 2011, heterozygous mutations in the ANKRD11 gene were identified in patients with KBG syndrome. Since then, 100 cases have been described with the expansion of the clinical phenotype. Here we present 18 KBG affected individuals from 13 unrelated families, 16 with pathogenic mutations in the ANKRD11 gene. Consistent features included intellectual disability, macrodontia, and the characteristic broad forehead with hypertelorism, and a prominent nasal bridge. Common features included hand anomalies, cryptorchidism, and a large number of palate abnormalities...
April 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28424097/unusual-course-of-generalized-lymph-node-primary-plasmacytoma-in-a-patient-with-sj%C3%A3-gren-s-syndrome-a-case-report
#3
Vadim R Gorodetskiy, Natalya A Probatova, Vladimir I Vasilyev
BACKGROUND: Primary lymph node plasmacytoma is a rare disease that typically involves lymph nodes of the neck. In only 15% of cases is the disease generalized. Here, we present a case of generalized lymph node plasmacytoma in a patient with Sjögren's syndrome with an unusual course. CASE PRESENTATION: A 48-year-old white woman presented to our hospital with enlargement of groups of lymph nodes, liver, and spleen. Her medical history was consistent with a 12-year course of Sjögren's syndrome...
April 20, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28386495/bilateral-sertoli-cell-tumors-in-a-patient-with-androgen-insensitivity-syndrome
#4
Roberta Fonseca de Souza, Janaina Pereira da Silva, Bruno Vieira Balla, Rodrigo Neves Ferreira, Antônio Chambô Filho
Androgen insensitivity syndrome is the most common cause of male pseudohermaphroditism and the third most common cause of primary amenorrhea. This genetic alteration is a consequence of inherited defects on the X chromosome causing total or partial damage to the intrauterine virilization process due to functional abnormalities in the androgen receptors. The present report describes a 22-year-old patient with a female phenotype and a 46, XY karyotype, presenting with bilateral inguinal tumors. The tumors were surgically removed at the Santa Casa de Misericórdia Hospital in Vitória, Espírito Santo, Brazil...
2017: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28384965/anaesthetic-management-in-brugada-syndrome-a-case-report
#5
Sulochana Dash, Shanmugam Pragathee
Brugada Syndrome (BS) is a rare congenital cardiac disorder involving cardiac sodium channels, sometimes presenting with ventricular arrhythmia and sudden cardiac death. Here, we are reporting a case of BS who presented for laparotomy due to obstructed inguinal hernia which was managed satisfactorily with combined epidural and general anaesthesia without any complications.
February 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28384934/giant-inguinal-herniae-managed-by-primary-repair-a-case-series
#6
Madhur Anand, Ranendra Hajong, Narang Naku, Debobratta Hajong, K Lenish Singh
Giant inguinal hernia are usually found in developing countries due to delay in seeking medical attention. The management of such hernias may sometimes require procedures to increase the intra-peritoneal capacity prior to the repair of the giant hernia. Otherwise patients may develop abdominal compartment syndrome leading to various unwanted complications. Primary repair of giant hernias are possible in some cases without having significant post-operative complications. In this present case series, we have managed a total of four patients of giant inguinal hernia by primary repair without much post-operative complications...
February 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28344607/locally-advanced-adenocarcinoma-of-the-cervix-on-uterus-didelphys-a-case-report
#7
Abel Cordoba, Alexandre Escande, Pauline Comte, Ingrid Fumagalli, Lucie Bresson, Ndaye Mubiayi, Eric Lartigau
In November 2013, a woman with Herlyn-Werner-Wunderlich (HWW) syndrome was diagnosed with a locally advanced left cervical adenocarcinoma. The patient's malformation consisted of two uteri with two cervixes, a obstructed vagina, and a left renal agenesis. Classification FIGO: stage IIIa because of infiltration of the inferior third of the vagina wall. Locoregional management comprised an infrarenal lateral aortic lymphadenectomy followed by concomitant radio-chemotherapy to the pelvic (inguinal, pelvic, and infrarenal para aortic nodes) volumes...
February 2017: Journal of Contemporary Brachytherapy
https://www.readbyqxmd.com/read/28344042/exercise-differentially-affects-metabolic-functions-and-white-adipose-tissue-in-female-letrozole-and-dihydrotestosterone-induced-mouse-models-of-polycystic-ovary-syndrome
#8
Rodrigo R Marcondes, Manuel Maliqueo, Romina Fornes, Anna Benrick, Min Hu, Niklas Ivarsson, Mattias Carlström, Samuel W Cushman, Karin G Stenkula, Gustavo A R Maciel, Elisabet Stener-Victorin
Here we hypothesized that exercise in dihydrotestosterone (DHT) or letrozole (LET)-induced polycystic ovary syndrome mouse models improves impaired insulin and glucose metabolism, adipose tissue morphology, and expression of genes related to adipogenesis, lipid metabolism, Notch pathway and browning in inguinal and mesenteric fat. DHT-exposed mice had increased body weight, increased number of large mesenteric adipocytes. LET-exposed mice displayed increased body weight and fat mass, decreased insulin sensitivity, increased frequency of small adipocytes and increased expression of genes related to lipolysis in mesenteric fat...
March 24, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28331809/persistent-mullerian-duct-syndrome-presenting-in-an-incarcerated-recurrent-inguinal-hernia-with-hydrocele
#9
Lauren Pulido, Gosta Iwasiuk, Michael Sparkuhl, Dang Bui, Haley Springs
Hernia uteri inguinalis (HUI) is one of the rarest causes of male pseudo-hermaphroditism worldwide. We report the case of a 49-year-old male with discovery of this anomaly during inguinal hernia repair. A 49-year-old man presented to the clinic for recurrent inguinal hernia with enlarging left scrotum consistent with hydrocele on imaging. Upon exploration of the left groin, the left testis was pulled up into the abdomen, revealing a uterus, fallopian tube, and a second atrophic testis. Despite the rarity of HUI, the differential diagnosis for inguinal hernia with associated cryptorchidism and/or hydrocele should include this rare form of pseudohermaphroditism...
May 2017: Urology Case Reports
https://www.readbyqxmd.com/read/28299491/effects-of-androgen-receptor-mutation-on-testicular-histopathology-of-patient-having-complete-androgen-insensitivity
#10
Ihtisham Bukhari, Guangyuan Li, Liu Wang, Furhan Iqbal, Huan Zhang, Jiansheng Zhu, Hui Liu, Xiangdong Fang, Nasser M Al-Daghri, Howard J Cooke, Yuanwei Zhang, Xiaohua Jiang
Androgens are required for normal male sex differentiation and development of male secondary sexual characteristics. Mutations in AR gene are known to cause defects in male sexual differentiation. In current study, we enrolled a 46,XY phenotypically female patient bearing testes in inguinal canal. DNA sequencing of the AR gene detected a missense mutation C.1715A > G (p. Y572C) in exon 2 which is already known to cause complete androgen insensitivity syndrome (CAIS). We focused on the effects of this mutation on the testicular histopathology of the patient...
March 15, 2017: Journal of Molecular Histology
https://www.readbyqxmd.com/read/28163853/bilateral-cryptorchidism-a-rare-presentation-for-persistent-m%C3%A3-llerian-duct-syndrome
#11
Abdullah Al-Faris, Mosleh Jabari, Mohammed Al-Sayed, Hassan Al-Shehri
Persistent Müllerian duct syndrome (PMDS) is a rare, sex-limited, autosomal recessive disorder representing male pseudo-hermaphroditism. It is observed in males with the presence of female reproductive organs such as the uterus, cervix, and bilateral fallopian tubes along with normally developed male reproductive organs. It generally occurs during embryogenesis due to mutation in anti-Müllerian hormone (AMH) gene, i.e., AMH gene or AMH receptor (AMHR2) gene. The present case reports a male infant with inflammation in the right groin who was admitted to Security Forces Hospital in 2015...
December 2016: Electronic Physician
https://www.readbyqxmd.com/read/28152494/transverse-testicular-ectopia-with-scrotal-hypospadias-but-without-inguinal-hernia-case-report-of-a-rare-association
#12
Pradeep Kajal, Kamal Nain Rattan, Namita Bhutani, Vijender Sangwan
Transverse testicular ectopia is an extremely rare anomaly, in which both the testis migrate towards the same hemiscrotum through the same inguinal canal. It is usually associated with other abnormalities such as persistent Mullerian duct syndrome, true hermaphroditism, inguinal hernia, pseudohermaphroditism, and scrotal anomalies; the association with inguinal hernia being the commonest. We, here, report a case of transverse testicular ectopia in a 12 years old boy having the ectopic testis in contralateral hemiscrotum without any inguinal hernia but having scrotal hypospadias with severe chordee...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28130281/lumbo-costo-vertebral-syndrome-with-inguinal-hernia-and-other-anomalies
#13
Rajpal Singh Sisodiya, Shasanka Shekhar Panda, Simmi K Ratan
No abstract text is available yet for this article.
January 27, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28088968/-para-neoplastic-autoimmune-multi-organ-syndrome-associated-with-follicular-lymphoma-a-case-report-and-literature-review
#14
D Chen, C Y Lin, X Han, B Chen, Z H Lu, X Y Chang, M H Duan
Objective: To broaden our knowledge of para-neoplastic autoimmune multi-organ syndrome (PAMS). Methods: A patient with PAMS associated with follicular lymphoma and bronchiolitis obliterans treated in our hospital was retrospectively analyzed and the clinical features of PAMS were reviewed. Results: A 49-year-old female patient suffered from painful ulcers in the oral cavity and vagina, dry cough and dyspnea. Imaging examinations suggested multiple lymph node enlargements. Inguinal lymph node biopsy revealed follicular lymphoma...
December 14, 2016: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/28058004/testicular-cancer-in-down-syndrome-with-spinal-cord-metastases
#15
Turky Almouhissen, Hattan Badr, Bassam AlMatrafi, Noor Alessa, Anmar Nassir
A 22-year-old male patient with Down syndrome was referred to our hospital with a vast left testicular mass. He underwent a left radical inguinal orchiectomy, and a histopathological examination of the mass showed a yolk sac tumor invading the epididymis. The patient was discharged in a satisfactory condition. Sixteen days later, the patient presented again complaining of lower limb weakness. Magnetic resonance imaging of the spine showed metastatic lesions compressing the dorsal spine, and he underwent emergency surgical decompression...
October 2016: Urology Annals
https://www.readbyqxmd.com/read/28050602/exome-sequencing-identifies-de-novo-pathogenic-variants-in-fbn1-and-trps1-in-a-patient-with-a-complex-connective-tissue-phenotype
#16
Diane B Zastrow, Patricia A Zornio, Annika Dries, Jennefer Kohler, Liliana Fernandez, Daryl Waggott, Magdalena Walkiewicz, Christine M Eng, Melanie A Manning, Ellyn Farrelly, Paul G Fisher, Euan A Ashley, Jonathan A Bernstein, Matthew T Wheeler
Here we describe a patient who presented with a history of congenital diaphragmatic hernia, inguinal hernia, and recurrent umbilical hernia. She also has joint laxity, hypotonia, and dysmorphic features. A unifying diagnosis was not identified based on her clinical phenotype. As part of her evaluation through the Undiagnosed Diseases Network, trio whole-exome sequencing was performed. Pathogenic variants in FBN1 and TRPS1 were identified as causing two distinct autosomal dominant conditions, each with de novo inheritance...
January 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28039344/complete-androgen-insensitivity-syndrome-with-concomitant-seminoma-and-sertoli-cell-adenoma-an-unusual-combination
#17
Balamurugan Thirunavukkarasu, Asit Ranjan Mridha, Neena Malhotra, Sheragaru Hanumanthappa Chandrashekhara
Androgen insensitivity syndrome is a rare disorder of sex development and its clinical manifestations vary from subtle male infertility to an overt complete androgen insensitivity syndrome (CAIS) with a female phenotype. CAIS is often diagnosed at puberty or in adolescence during investigation for primary amenorrhoea. Undiagnosed patients have an increased risk of development of malignancy in the harboured testes. Inguinal hernia is the commonest mode of presentation of CAIS in childhood and various screening methods are available during the initial herniorrhaphy procedure...
December 30, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27998513/sexual-orientation-and-medical-history-among-iranian-people-with-complete-androgen-insensitivity-syndrome-and-congenital-adrenal-hyperplasia
#18
Behzad S Khorashad, Ghasem M Roshan, Alistair G Reid, Zahra Aghili, Mehran Hiradfar, Mozhgan Afkhamizadeh, Ali Talaei, Azadeh Aarabi, Nosrat Ghaemi, Negin Taghehchian, Hedieh Saberi, Nazanin Farahi, Mohammad Reza Abbaszadegan
OBJECTIVE: To report sexual orientation, relationship status and medical history of Iranian people with Differences of Sex Development (DSD) who were raised female. METHODS: Our participants consisted of nineteen 46,XY individuals with Complete Androgen Insensitivity Syndrome (CAIS) and eighteen 46,XX individuals with Congenital Adrenal Hyperplasia (CAH) who were raised as females and older than 13years. As well as their relationship status and detailed medical history, an expert psychiatrist assessed their sexual orientation by a semi-structured psychiatric interview with them and, where applicable, their parents...
January 2017: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/27998313/embryonal-rhabdomyosarcoma-of-the-perineum-in-an-adult-a-case-report
#19
Sidy Ka, Freddy Gnangnon, Mamadou Moustapha Dieng, Doudou Diouf, Jaafar Thiam, Pape Macoumba Gaye, Ahmadou Dem
BACKGROUND: We report the case of an adult patient with embryonal rhabdomyosarcoma of the perineum admitted to our practice at Joliot Curie Institute in Dakar. It is a rare tumor at this age and has a bad prognosis at this localization. CASE PRESENTATION: We describe the case of a 22-year-old African man admitted for a perineal mass that had evolved over 6 months. He complained of tenesmus, obstinate constipation, and dysuria. A clinical examination revealed perineal swelling spread over his anus, scrotum, penis, testicles, and inguinal lymph nodes...
December 20, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27990249/sex-differences-in-sympathetic-innervation-and-browning-of-white-adipose-tissue-of-mice
#20
Sang-Nam Kim, Young-Suk Jung, Hyun-Jung Kwon, Je Kyung Seong, James G Granneman, Yun-Hee Lee
BACKGROUND: The higher prevalence of obesity-related metabolic disease in males suggests that female sex hormones provide protective mechanisms against the pathogenesis of metabolic syndrome. Because browning of white adipose tissue (WAT) is protective against obesity-related metabolic disease, we examined sex differences in β3-adrenergic remodeling of WAT in mice. METHODS: Effects of the β3-adrenergic receptor agonist CL316,243 (CL) on browning of white adipose tissue were investigated in male and female C57BL mice...
2016: Biology of Sex Differences
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