OpenMed/multicare-articles huggingface dataset:
Treatment of obstructive uropathy in one of three young brothers suffering from Gorlin-Cohen syndrome: a case report
Authors: Ioannis Vakalopoulos, Spyridon Kampantais, Panagiotis Dimopoulos, Christos Papastavros, Vasileios Katsikas
Journal: BMC Urol (2012)
MeSH terms: Abnormalities, Multiple / surgery, Bone Diseases, Developmental / surgery, Siblings, Urethral Obstruction / surgery, Case Reports, Abnormalities, Multiple / diagnosis, Adult, Bone Diseases, Developmental / complications, Bone Diseases, Developmental / diagnosis, Humans, Male, Syndrome, Treatment Outcome, Urethral Obstruction / complications, Urethral Obstruction / diagnosis, Urinary Retention / complications, Urinary Retention / diagnosis, Urinary Retention / surgery

Background:
Frontometaphyseal dysplasia, or Gorlin-Cohen syndrome, is an X-linked disorder primarily characterized by skeletal dysplasia, such as hyperostosis of the skull and abnormalities of tubular bone modeling. Some patients develop extraskeletal manifestations, such as urinary tract anomalies.
Case presentation:
A 26-year-old male patient was diagnosed with frontometaphyseal dysplasia and suffered from chronic urine retention. Although the patient was primarily diagnosed with a neurogenic bladder, our work-up revealed posterior urethral valves, bladder neck stenosis, and multiple bladder stones. The patient was treated by transurethral resection of the urethral valves and bladder neck with simultaneous open cystolithotomy to remove the bladder calculi. After removal of the catheter, the patient voided normally and had no post-void residual urine. At the 1-year follow-up, he was still voiding normally; his urodynamic investigation was also normal.
Conclusions:
In the recent literature, there is scarce information on the diagnosis, treatment, and follow-up of patients with malformations of the urinary tract as a result of Gorlin-Cohen syndrome. The case presented here could guide urological approaches to patients suffering from this rare condition.
Poorly differentiated ovarian sertoli-leydig cell tumor in a 16-year-old single woman: a case report and literature review
Authors: Ahmed Abu-Zaid, Ayman Azzam, Lama Abdulhamid Alghuneim, Mona Tarek Metawee, Tarek Amin, Turki Omar Al-Hussain
Journal: Case Rep Obstet Gynecol (2013)

Sertoli-Leydig cell tumor (SLCT) of ovary is an exceedingly unusual neoplasm that belongs to a group of sex cord-stromal tumors of ovary and accounts for less than 0.5% of all primary ovarian neoplasms. Very few case reports have been documented in the literature so far. Herein, we report a case of primary poorly differentiated ovarian Sertoli-Leydig cell tumor (SLCT) involving the left ovary in a 16-year-old single woman who presented with a 3-month history of a pelviabdominal mass, acne, hirsutism, and menstrual irregularities. In addition, a literature review on ovarian SLCTs is provided.
Familial Mediterranean fever with colonic lesions: A case report
Authors: Hiroyuki Ariga, Reiko Kunisaki, Takeshi Ojima, Satoshi Suzuki, Kenta Okada, Junya Kashimura
Journal: DEN Open (2023)
Keywords: 5‐aminosalicylate, colchicine, familial mediterranean fever, prednisolone, ulcerative colitis
MeSH terms: Case Reports

A 26-year-old man with a history of ulcerative colitis treatment presented to our clinic with abdominal pain and fever. He had a history of bloody stools and abdominal pain at 19 years of age. A thorough examination by a medical practitioner, including lower gastrointestinal endoscopy, resulted in the diagnosis of ulcerative colitis. After induction of remission with prednisolone (PSL), the patient was treated with 5-aminosalicylate. One year ago in September, his symptoms flared up again, and he was administered 30 mg/day of PSL until November of the same year. However, he was transferred to another hospital and referred to his previous doctor. During the follow-up in December of the same year, flare-ups of abdominal pain and diarrhea were reported. Upon review of the patient's medical history, familial Mediterranean fever was suspected because the patient had periodic fevers ≥38°C and symptoms that persisted even after oral steroid administration and were sometimes accompanied by joint pain. However, he was transferred again, and PSL was administered once more. The patient was referred to our hospital for further treatment. At the time of arrival, his symptoms did not improve with 40 mg/day of PSL, and endoscopy and computed tomography revealed thickening of the colon, with no abnormality in the small intestine. Suspecting familial Mediterranean fever-associated enteritis, the patient was administered colchicine, resulting in an improvement in symptoms. Furthermore, an examination of the MEFV gene showed a mutation in Exon5 (S503C), and atypical familial Mediterranean fever was diagnosed. Endoscopy after colchicine treatment revealed that the ulcers improved remarkably.
Traumatic iridial extrusion mimicking a conjunctival melanocytic neoplasm
Authors: Pablo Zoroquiain, Maria Sb Ganimi, Sarah Alghamdi, Julia V Burnier, Sultan S Aldrees, Miguel N Burnier
Journal: Ecancermedicalscience (2016)
Keywords: conjunctival melanoma, iridial extrusion, ocular melanosis
MeSH terms: Case Reports

Conjunctival melanoma is a rare malignant tumour of the eye. Its diagnosis represents a challenge for general pathologists due to low exposure to ocular biopsies and a broad differential diagnosis. In addition, conjunctival samples are often small and are associated with a high frequency of artefacts due to their processing. Here, we present the first case to date of a traumatic iridial extrusion masquerading as a conjunctival melanocytic neoplasm. An 83-year-old Asian man presented with a conjunctival-pigmented nodule surrounded by an area of diffuse pigmentation. Histopathology revealed in the nodule a well-demarcated lesion composed of spindle shaped melanocytes with thick-walled blood vessels. At higher magnification, the blood vessels were composed of thick walls with collagen fibres in an onion-skin-like arrangement. The histological findings were consistent with extruded iridial tissue. The map biopsies of the flat, pigmented lesion showed melanocytic cell proliferation with dendritic processes restricted to the lamina propria without any epithelial involvement, consistent with ocular melanocytosis. The diagnosis of conjunctival melanocytic lesions is challenging, and non-neoplastic conditions should always be included in the differential diagnosis. Pathologists should correlate clinicopathological findings and be familiar with the normal histology in order to achieve the correct diagnosis.
Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report
Authors: Aleksander Jamsheer, Anna Sowińska, Leszek Kaczmarek, Anna Latos-Bieleńska
Journal: BMC Med Genet (2012)
MeSH terms: Brachydactyly / genetics, Codon, Nonsense, Homeodomain Proteins / genetics, Transcription Factors / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, Child, Female, Humans, Male, Codon, Nonsense, HOXD13 protein, human, Homeodomain Proteins, Transcription Factors

Background:
Brachydactyly type E (BDE; MIM#113300) is characterized by shortening of the metacarpal, metatarsal, and often phalangeal bones, and predominantly affects postaxial ray(s) of the limb. BDE may occur as an isolated trait or as part of a syndrome. Isolated BDE is rare and in the majority of cases the molecular pathogenesis has so far not been resolved. Originally, the molecular cause of isolated BDE has been unravelled in 2 families and shown to result from heterozygous missense mutations in the homeodomain of the HOXD13 gene. Since the initial manuscript, one further HOXD13 mutation has been reported only in a single family manifesting isolated BDE.
Case presentation:
In this paper, we report on a Polish family exhibiting isolated BDE caused by a novel nonsense heterozygous HOXD13 mutation. We investigated a Polish female proband and her father, both affected by isolated BDE, in whom we identified a nonsense heterozygous mutation c.820C > T(p.R274X) in the HOXD13 gene. So far, only two missense HOXD13 substitutions (p.S308C and p.I314L), localized within the homeodomain of the HOXD13 transcription factor, as well as a single nonsense mutation (p.E181X) were associated with BDE. Both missense changes were supposed to alter DNA binding affinity of the protein.
Conclusion:
The variant p.R274X identified in our proband is the fourth HOXD13 mutation, and the second truncating (nonsense) mutation, reported to result in typical isolated BDE. We refer our clinical and molecular findings to the previously described HOXD13 associated phenotypes and mutations.
Vaginal Laceration in an Open Pelvic Fracture Case Report: A Novel, Prophylactic Antibiotic Delivery Mechanism
Authors: Nishant Suneja, Eric H Tischler, Skye Lockwood, Adam J Wolfert, Daniel Martingano, Piyapa Praditpan, Thomas Lyon
Journal: Case Rep Orthop (2021)
MeSH terms: Case Reports

Introduction:
Rotational displaced pelvic ring injuries are associated with internal injuries to both the gastrointestinal and genitourinary viscera and anatomic structures. Vaginal lacerations and open genitourinary-associated injuries are at increased risk of mortality due to sepsis. Case Presentation. This case presents a 65-year-old female status post-pedestrian-vehicle struck diagnosed with an open pelvic fracture with extension into the outer one-third of the vaginal wall. The patient was successfully treated with emergent surgical debridement, pelvic stabilization, and internal placement of a novel combination of metronidazole antibiotic gel and vancomycin/tobramycin Polymethyl methacrylate beads.
Conclusion:
No evidence of infection was observed with the use of topical metronidazole-coated vancomycin/tobramycin Polymethyl methacrylate beads for contaminated open pelvic fracture injury involving the vaginal wall. Further research on antibiotic gels for use in high-risk open fractures is required.
Intimomedial mucoid degeneration causing aortic and renal artery aneurysms in a young adult
Authors: Charle Viljoen, Patryk Szymanski, Naeem Osman, Kristin Lorenc Henning, Paul Scholtz, Brian Rayner, Nadraj Naidoo
Journal: Cardiovasc J Afr (2016)
MeSH terms: Aorta / surgery, Aortic Aneurysm / pathology, Aortic Aneurysm / surgery, Renal Artery / surgery, Tunica Intima / pathology, Case Reports, Adolescent, Aorta / physiopathology, Aortic Aneurysm / diagnosis, Humans, Male, Renal Artery / pathology, Renal Artery / physiopathology, Treatment Outcome, Tunica Intima / physiopathology, Tunica Media

Intimomedial mucoid degeneration (IMMD) is characterised by aneurysm formation following mucin deposition in the intima and media, with elastic tissue degeneration of the arterial wall. We present a case of a young adult who developed a diffusely aneurysmal aorta and its major branches, which was histopathologically confirmed as intimomedial mucoid degeneration, and a review of the literature. This case report attempts to raise the awareness of the reader to this rare cause of aortic aneurysm and to the bleeding diathesis associated with IMMD that may complicate surgery.
A Patient of Using Presepsin to Diagnose Streptococcal Toxic Shock Syndrome during Anticancer Drug Treatment
Authors: Gaku Takahashi
Journal: Case Rep Crit Care (2019)
MeSH terms: Case Reports

Background:
Streptococcal toxic shock syndrome (STSS) is a rapidly progressive infection, with potentially rapid patient deterioration in a very short period. We experienced a rare case of STSS during anticancer chemotherapy, and we continuously measured presepsin (P-SEP) and evaluated its usefulness.
Case presentation:
A 60-year-old woman with pulmonary metastasis from cervical cancer began anticancer chemotherapy. A fever of >40°C and right lower leg swelling developed on day 3. Symptoms worsened despite cefmetazole treatment (1.0 g/day). Blood culture was performed without suspecting STSS. On day 5, symptoms worsened and acute disseminated intravascular coagulation (DIC) and sequential organ failure assessment (SOFA) scores increased. C-reactive protein (CRP) increased from 28.8 mg/dl to 35.5 mg/dl and P-SEP also increased from 1,635 to 2,350 pg/mL. STSS was suspected due to the rapid progression of brown discoloration of the entire right lower leg. Ceftriaxone 2 g/day and clindamycin 1,200 mg/day were begun. On the evening of day 5, blood culture revealed rapidly progressive group A streptococci. After that, symptoms improved rapidly with treatment, and SOFA and DIC scores also decreased. While CRP remained at about 0.5 mg/dl, P-SEP remained slightly elevated at about 400 pg/mL. A residual infection focus was suspected. Contrast-enhanced computed tomography (CT) revealed a capsule-enclosed abscess in the right lower leg soleus muscle on day 32. Debridement was performed and antibiotics were continued until P-SEP was 88 pg/mL. CT confirmed the disappearance of the abscess.
Conclusion:
Prompt diagnosis by blood culture and a sufficiently early, appropriate change in antibiotic therapy led to successful recovery from STSS during anticancer chemotherapy without lower limb amputation. P-SEP was useful in assessment of the residual infection focus and suspending treatments.
Case report: Delayed outflow obstruction of a DVA: A rare complication of brainstem cavernoma surgery
Authors: Kevin Agyemang, Rony Gómez Rodríguez, Victor Hugo Rocha Marussi, Sally Allinson Marte Arias, Alexander Feliciano Vilcahuaman Paitań, José Maria Campos Filho, Feres Chaddad-Neto
Journal: Front Neurol (2023)
Keywords: brainstem, case report, cavernous angioma, cavernous malformation, developmental venous anomaly, spontaneous occlusion
MeSH terms: Case Reports

Introduction:
Developmental venous anomalies (DVAs) are considered variants of normal transmedullary veins. Their association with cavernous malformations is reported to increase the risk of hemorrhage. Expert consensus recommends meticulous planning with MR imaging, use of anatomical "safe zones", intraoperative monitoring of long tracts and cranial nerve nuclei, and preservation of the DVA as key to avoiding complications in brainstem cavernoma microsurgery. Symptomatic outflow restriction of DVA is rare, with the few reported cases in the literature restricted to DVAs in the supratentorial compartment.
Case:
We present a case report of the resection of a pontine cavernoma complicated by delayed outflow obstruction of the associated DVA. A female patient in her 20's presented with progressive left-sided hemisensory disturbance and mild hemiparesis. MRI revealed two pontine cavernomas associated with interconnected DVA and hematoma. The symptomatic cavernoma was resected via the infrafacial corridor. Despite the preservation of the DVA, the patient developed delayed deterioration secondary to venous hemorrhagic infarction. We discuss the imaging and surgical anatomy pertinent to brainstem cavernoma surgery, as well as the literature exploring the management of symptomatic infratentorial DVA occlusion.
Conclusion:
Delayed symptomatic pontine venous congestive edema is extremely rare following cavernoma surgery. DVA outflow restriction from a post-operative cavity, intraoperative manipulation, and intrinsic hypercoagulability from COVID-10 infection are potential pathophysiological factors. Improved knowledge of DVAs, brainstem venous anatomy, and "safe entry zones" will further elucidate the etiology of and the efficacious treatment for this complication.
Acute Spontaneous Perforation of Rectosigmoid Junction in a Patient with Quadriplegia following Spinal Cord Injury
Authors: Oshan Basnayake, Chiran Rathnaweera, Umesh Jayarajah, Gishanthan Shanthamoorthy, Heshan Dayantha Siriwardena, Asela Jayathilaka
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

Background:
Patients with cervical spinal injury with quadriplegia are at an increased risk of developing serious gastrointestinal complications. We report an unusual case of spontaneous rectosigmoid perforation in a quadriplegic patient. Case Presentation. A 58-year-old man with diabetes mellitus and hypertension presented to the emergency department following a fall from 25 feet of height. He sustained a fifth cervical vertebral fracture with quadriplegia and neurogenic shock. One week later, he developed progressive abdominal distension with tachycardia, low blood pressure, and respiratory distress. His abdomen was soft but had impaired liver dullness. Imaging showed evidence of visceral perforation. He underwent an emergency laparotomy and was found to have a perforation of the antemesenteric border of the rectosigmoid junction with fecal contamination. The perforation was repaired primarily, and a temporary loop ileostomy was created. The patient received intensive care for 4 days, and thereafter, the recovery was uneventful. He was later transferred to the spinal unit for further management. The intraoperative findings, histology, and subsequent colonoscopy did not reveal any underlying cause for the perforation.
Conclusions:
Clinical signs and symptoms are generally absent in patients following spinal cord injury, and the diagnosis of serious gastrointestinal pathology can be difficult and challenging. We believe that ischemia at the rectosigmoid junction precipitated by multiple factors was the possible reason for the spontaneous perforation.
Extratympanic electrocochleography in the diagnosis of auditory neuropathy/auditory dyssynchrony
Authors: Adriana Ribeiro Tavares Anastasio, Kátia de Freitas Alvarenga, Orozimbo Alves Costa Filho
Journal: Braz J Otorhinolaryngol (2008)
MeSH terms: Auditory Perceptual Disorders / diagnosis, Cochlear Microphonic Potentials / physiology, Electrophysiology / methods, Evoked Potentials, Auditory, Brain Stem / physiology, Hearing Loss / diagnosis, Vestibulocochlear Nerve Diseases / diagnosis, Case Reports, Review, Auditory Perceptual Disorders / physiopathology, Child, Preschool, Diagnosis, Differential, Female, Humans, Reproducibility of Results, Vestibulocochlear Nerve Diseases / physiopathology

The brainstem auditory evoked potential (BAEP) is being extensively used as a method for the evaluation of cochlear function in individuals with diagnosis of auditory neuropathy/auditory dyssynchrony (AN/AD). In the absence of otoacoustic emissions, many cases of AN/AD have been diagnosed by the presence of CM identified in the BAEP.
Aim:
to demonstrate the clinical applicability of extratympanic electrocochleography (ET-Ecochg) in the differential diagnosis of AN/AD compared to the BAEP.
Method:
a 4-year-old child with a diagnosis of AN/AD seen at the Audiological Research Center was submitted to ET-Ecochg with a 2000 Hz tone burst in rarefaction and condensation polarities.
Results:
the ET-Ecochg exam was illustrated. Using an appropriate protocol, it was possible to demonstrate CM and to confirm it in the Ecochg, with a recording quality superior to that obtained in the BAEP.
Conclusion:
ET-Ecochg permitted a more detailed analysis of CM compared to the BAEP, thus showing clinical applicability for the investigation of cochlear function in AN/AD.
Efficacy and safety of dupilumab in two adolescents with severe atopic dermatitis
Authors: Mara Giavina-Bianchi, Pedro Giavina-Bianchi
Journal: Einstein (Sao Paulo) (2021)
MeSH terms: Dermatitis, Atopic / drug therapy, Case Reports, Adolescent, Adult, Antibodies, Monoclonal / therapeutic use, Antibodies, Monoclonal, Humanized, Brazil, Child, Double-Blind Method, Humans, Injections, Subcutaneous, Quality of Life, Severity of Illness Index, Treatment Outcome, Antibodies, Monoclonal, Antibodies, Monoclonal, Humanized, dupilumab

We report the cases of two adolescent siblings with severe atopic dermatitis, who, despite weighing approximately 40kg, presented a good response to dupilumab with the off-label dose for individuals aged 12 years and weighing 60kg. Both had already used cyclosporine, azathioprine, methotrexate and oral corticosteroids for long periods, plus topical treatments with no adequate disease control. Skin lesions were constant and widespread, with frequent skin infections and very poor quality of life, with numerous physical and psychosocial consequences, such as dropping out of school activities due to severe itching, appearance and bullying. They also showed delayed growth and development. In 2018, dupilumab, an immunobiological agent, was approved for treatment of moderate to severe atopic dermatitis in adults and, in 2019, extended to the 12-17-year age group. Although it had already been approved by the Brazilian Health Surveillance Agency, the 200mg presentation (indicated for the weight of patients) was not available, with no expected arrival date. Therefore, weighing the risks and benefits of the situation of both, we chose to treat them with an adult dose (loading dose of 600mg subcutaneously, and 300mg subcutaneously every 2 weeks) despite the low weight. So far, they have received eight injections, showing significant improvement of disease and quality of life. There were no major adverse effects, only worsening of allergic conjunctivitis in one of them. The patients and their family are very satisfied, and we believe that the therapy has been successful.
Closure of a Recurrent Urethrovaginal Fistula in a Girl with Cloacal Anomaly Using Deflux Injection
Authors: Hanan Said, Salahuddin S Syed, Ali Zeinelabdeen, Mohamed Negm Fayez
Journal: European J Pediatr Surg Rep (2018)
Keywords: cloaca, urethrovaginal fistula, use of deflux
MeSH terms: Case Reports

In a girl born with cloaca, both hemivaginae and rectum were located above the bladder neck, and both ureters were connected to the hemivaginae. After diverting colostomy and cystovaginoscopy on the second day of life, the repair of cloaca was performed at 10 months of age by posterior sagittal anorecto vaginoplasty (PSARVP), including laparotomy and bilateral ureteric reimplantation. Eight months after the surgery, she developed a vesicovaginal fistula, which was repaired and closed by open surgery through the bladder. Three months after this procedure, a tiny urethrovaginal fistula was noticed, which was closed at the age of 2 years using hook diathermy to refresh the edges and was then closed by Deflux injection. The proper closure of the urethrovaginal fistula was confirmed by radiology and cystoscopy 3 months after the surgery. This report shows that injection of Deflux into a tiny urethrovaginal fistula following refreshing the edges may be a valid treatment option in selected cases.
Three cases of appendicitis with anorexia nervosa under inpatient care
Authors: Shu Takakura, Hiroaki Yokoyama, Chie Suzuyama, Keita Tatsushima, Makoto Yamashita, Motoharu Gondou, Chihiro Morita, Tomokazu Hata, Masato Takii, Keisuke Kawai, Nobuyuki Sudo
Journal: J Eat Disord (2015)
Keywords: anorexia nervosa, appendicitis, inpatient therapy, re-nourishment
MeSH terms: Case Reports

Background:
Little is known about the occurrence of appendicitis during the re-nourishment period in anorexia nervosa (AN). We report three cases of appendicitis in patients with AN that occurred after hospitalization for treatment of AN.
Case presentation:
Case 1 is a 34-year-old female, case 2 is a 17-year-old female and case 3 is a 38-year-old female. Constipation was observed in all three cases. Careful management of defecation might be essential to prevent appendicitis among AN patients during the re-nourishment period under inpatient care. In addition, mild and diffuse symptoms were observed in all three cases. Therefore, diagnosis proved to be difficult to make and abdominal computed tomography was particularly helpful in all cases. As the symptoms were diffuse, the condition of appendicitis turned out to be more severe and complicated in one case. Additionally, the incidence of appendicitis in AN in the current study might be higher than that in the normal population.
Conclusions:
These findings suggest that appendicitis should be considered as one of the potentially important complications in the therapy for AN.