OpenMed/multicare-articles huggingface dataset:
Allopurinol-Induced Stevens-Johnson Syndrome in Javanese Men With Positive HLA-B*58:01
Authors: Astri Ferdiana, Jajah Fachiroh, Dyah Ayu Mira Oktarina, Astrid Irwanto, Caroline Mahendra, Sri Awalia Febriana, Hardyanto Soebono
Journal: Front Genet (2022)
Keywords: hla-b*58
MeSH terms: Case Reports

Background: Allopurinol is the most commonly used drug for the treatment of gout arthritis. However, the use of allopurinol is associated with severe cutaneous adverse reactions (SCARs) and life-threatening immune-mediated reactions that include Stevens-Johnson syndrome (SJS). SJS induced by allopurinol is strongly linked with the presence of HLA-B*58:01 in the Asian population. Such a study has not been conducted in Indonesia. We present two cases with clinical diagnosis of SJS. These patients had Javanese ethnicity, for which evidence on the genetic predisposition of allopurinol-induced SJS/TEN had not been established. Testing for the presence of the HLA-B∗58:01 allele was positive in both cases. Our case report confirms findings from studies in Asian countries that link HLA-B*58:01 and allopurinol-induced SJS/TEN. A larger study is needed to elicit evidence that the HLA-B*58:01 allele can potentially be used as a genetic marker for allopurinol-induced SCARs among different ethnicities in Indonesia.
Detection of a balanced translocation carrier through trophectoderm biopsy analysis: a case report
Authors: Olga Tšuiko, Tuuli Dmitrijeva, Katrin Kask, Pille Tammur, Neeme Tõnisson, Andres Salumets, Tatjana Jatsenko
Journal: Mol Cytogenet (2019)
Keywords: balanced translocations, ivf, next-generation sequencing, pgt-a, preimplantation genetic testing
MeSH terms: Case Reports

Background:
Balanced translocation carriers are burdened with fertility issues due to improper chromosome segregation in gametes, resulting in either implantation failure, miscarriage or birth of a child with chromosomal disorders. At the same time, these individuals are typically healthy with no signs of developmental problems, hence they often are unaware of their condition. Yet, because of difficulties in conceiving, balanced translocation carriers often turn to assisted reproduction, some of whom may also undergo preimplantation genetic testing for aneuploidy (PGT-A) to improve the likelihood of achieving a successful pregnancy.
Case report:
We describe a female patient, who pursued in vitro fertilization (IVF) treatment coupled with PGT-A following two consecutive miscarriages, unaware of her genetic condition. PGT-A was performed on blastocyst-stage embryos and the results of comprehensive chromosome screening from a first IVF cycle demonstrated reciprocal segmental aberrations on chromosome 7 and chromosome 10 in two out of four embryos. Due to distinct embryo profiles, the couple was then referred for genetic counselling and subsequent parental karyotyping revealed the presence of a previously undetected balanced translocation in the mother.
Conclusions:
These results confirm previous reports that genome-wide PGT-A can facilitate the identification of balanced translocation carriers in IVF patients, providing explanation for poor reproductive outcome and allowing adjustments in treatment strategies.
Sacral Neuromodulation: Foray into Chronic Pelvic Pain in End Stage Endometriosis
Authors: Maija Lavonius, Pia Suvitie, Pirita Varpe, Heikki Huhtinen
Journal: Case Rep Neurol Med (2017)
MeSH terms: Case Reports

Excision of all endometriotic lesions is the method of choice in the treatment of severe endometriosis resistant to medical therapy. The infiltrating nature of the disease as well as extensive surgery may, however, cause chronic pain that cannot be relieved by either surgery or hormonal treatment. As a pilot treatment, we tested the effect of sacral neuromodulation (SNM) for four endometriosis patients suffering chronic pelvic pain and pelvic organ dysfunction after radical surgical treatment. Three out of four patients reported improvement in their symptoms during the neuromodulation testing period and a permanent pulse generator was installed. After 2.5 years, all three patients report better quality of life and want to continue with SNM.
Severe hemorrhage from the umbilical cord at birth: a preventable cause of neonatal shock
Authors: Neetu Singh, Gautham Suresh
Journal: Case Rep Pediatr (2013)

Posthemorrhagic anemia is a rare but important cause of anemia in neonates, second only to hemolytic anemia of newborn. Most cases of posthemorrhagic anemia are reported from fetomaternal hemorrhage or umbilical cord accidents in utero. This case report describes a preterm infant who developed severe anemia and shock immediately after delivery related to an acute hemorrhage through patent umbilical cord vessels secondary to a tear in the umbilical cord at the site of cord clamping. We believe that umbilical cord bleeding from errors in cord clamping could be an important cause of acute blood loss in the delivery room and that it may result in significant clinical morbidity, especially in extremely premature infants.
Giant bleeding post-traumatic thoracic sarcoma management: A case report
Authors: Alexey V Shabunin, Ivan N Lebedinsky, David D Dolidze, Zurab A Bagatelia, Serghei Covantsev, Dmitry S Bocharnikov, Nodar N Gogitidze
Journal: Front Surg (2022)
Keywords: bleeding, breast mobilization, thoracic soft tissue sarcomas, thorax, tumor
MeSH terms: Case Reports

The heterogeneity of thoracic wall tumors often represents challenging clinical entities for surgeons due to diagnostic and treatment complexities. The primary tumors, metastases, or direct invasion from intrathoracic structures comprise almost half of all cases on average that are proved to be malignant. Surgery treatment usually leaves large chest defects that require further extensive reconstruction and multimodal management including radiotherapy and chemotherapy. We report a rare case of a giant (30 cm) post-traumatic bleeding thoracic sarcoma treatment in a 70-year-old female. The use of our modified Verneuil technique to close the extensive postoperative skin defect optimized surgical wound management and provided good functional and aesthetic results. Four-year follow-up outcomes after surgical and adjuvant radiation therapy reported a high level of tumor control and showed no evidence of postoperative disease recurrence.
Abdominal wall reconstruction for desmoid tumour surgery: Case report
Authors: Francesca Ascari, Silvia Segattini, Michele Varoli, Massimo Beghi, Simone Muratori, Bruno Scotto, Marco Gasperoni
Journal: Int J Surg Case Rep (2019)
Keywords: abdominal wall reconstruction, case report, desmoid tumour, posterior component separation

Introduction:
Desmoid tumours are rare benign neoplasms with strong tendency to local invasion and recurrence. They usually rise from muscles and aponeurosis and could be challenging for medical treatment. We here report the case of a patient requiring the excision of part of the abdominal rectus muscle and an abdominal wall reconstruction.
Presentation of case:
A 38 years old women referred to our institution complaining of a painful lump in the anterior abdominal wall. She underwent ultrasonography (US), magnetic resonance imaging (MRI) and a computed tomography (CT) biopsy who showed the presence of a desmoid tumour arising in the right abdominal rectus muscle. She underwent surgical excision of the mass and an abdominal wall reconstruction according to the posterior component separation technique, with a large polypropylene mesh reinforcement. The post-operative period was uneventful and at 6 months she shows no clinical nor radiological recurrence.
Discussion:
Desmoid tumours are rare neoplasms rising in many anatomical spaces and requiring challenging decisions. A radical resection with free margins remains the principal determinant of outcome. Non-surgical approaches and adjuvant therapy may be useful for patients with unresectable lesions.
Conclusion:
The optimal treatment strategy for desmoid tumours still remains unclear. A multidisciplinary approach is always the best strategy to establish the correct treatment.
Development and Implantation of a Universal Talar Prosthesis
Authors: Julia Bowes, Samer Adeeb, Andrew Grosvenor, L Beaupre, Nadr M Jomha
Journal: Front Surg (2019)
Keywords: avascular necrosis, synthetic bone, talar prosthesis, talar replacement, universal talar replacement
MeSH terms: Case Reports

Talar avascular necrosis (AVN) can result in bone collapse with subsequent ankle and subtalar osteoarthritis ending in significant pain and disability. Custom talar body prostheses have been implanted with good results but these are difficult to design, costly and require extensive planning. In the past few years, we have investigated the feasibility of a universal talar replacement prosthesis through multiple studies. This report documents that development and the results from the first patient to receive a universal talar replacement prosthesis. A patient with bilateral talar AVN with collapse had implantation of two universal talar prostheses with final evaluations at 34 months (right) and 12 months (left) post-implantation using visual analog scale, range of motion, SF-36 questionnaire, and personal reflection. The patient had decreased pain, increase range of motion, improvement (or no change) on all domains of the SF-36 and expressed great appreciation for having the procedures done. This report demonstrates the effectiveness and feasibility of a universal talar prosthesis. Continued development of this type of implant can decrease costs, improve access, and provide an acceptable alternative when a custom prosthesis is not possible.
A Rare Case of Endometrial Cancer Metastatic to the Sigmoid Colon and Small Bowel
Authors: Jeffrey A Hubers, Anurag Soni
Journal: Case Rep Gastrointest Med (2017)
MeSH terms: Case Reports

Metastatic endometrial cancer to the small bowel or colon has been described but is quite rare. We present a case of metastatic endometrial cancer with synchronous metastases to the colon and jejunum identified three years after surgical treatment of early stage endometrial cancer.
Case Report: Esthesioneuroblastoma Involving the Optic Pathways
Authors: Vithor Ely B da Silva, Samuel R Buniatti, Felipe D'Almeida Costa, Mauricio R Torrecillas, Jean G de Oliveira, Marcio S Rassi
Journal: Front Surg (2022)
Keywords: cranio-orbito-zygomatic approach, ectopic tumor, esthesioneuroblastoma, olfactory neuroblastoma/esthesioneuroblastoma, skull base
MeSH terms: Case Reports

Olfactory neuroblastoma, or esthesioneuroblastoma, is an uncommon malignant tumor originating from the neural crest that commonly occurs in the upper nasal cavity. Its ectopic origin is extremely rare, especially when located in the optical pathways. This paper reports the case of a giant ectopic esthesioneuroblastoma of the optic pathways that were surgically treated through a cranio-orbital-zygomatic (COZ) craniotomy with extensive resection, in addition to a literature review. The patient is a 46-year-old female presenting with a 4-month history of visual loss in the left eye. Since she was previously blind in the right eye from a traumatic injury, it was evolving to loss of bilateral vision. Imaging depicted an expansive infiltrating lesion involving the entire path of the right optic nerve, extending to the optic chiasm, cisternal portion of the left optic nerve, bilateral optic tract, and hypothalamus. Investigation of pituitary function was unremarkable. Esthesioneuroblastoma is a rare tumor with poorly defined standard clinical management. Its ectopic presentation makes the diagnosis even more challenging, making it difficult to manage these cases properly. Surgeons should be aware of this rare possibility, as early aggressive treatment is likely to be associated with better results.
Treatment of bilateral congenital extensor tendon dislocation on multiple digits with only one sagittal band reconstruction: a case report
Authors: Jun-Hyuk Lim, Sung-Taek Jung, Jae Hyeok Cheon, Sungmin Kim
Journal: Front Pediatr (2023)
Keywords: congenital extensor tendon dislocation, juncturae tendinum, multiple digits, sagittal band reconstruction, surgical treatment
MeSH terms: Case Reports

Bilateral congenital dislocation of the extensor tendon in the metacarpophalangeal joint is an exceedingly rare disease and often involves multiple fingers. Surgical treatment of multiple congenital extensor tendon dislocations in both hands has been reported; however, no report has clearly stated whether all fingers should be surgically treated in patients with multiple finger involvement. We report a case in which we successfully treated bilateral congenital extensor tendon dislocation on multiple digits with only one single-loop reconstruction of the sagittal band instead of operating on all involved fingers.
Late onset epilepsy associated with marijuana abuse: a case report with MRI findings
Authors: Yannick Fogoum Fogang, Massaman Camara, Paul Chimi Mbonda, Dènahin Toffa, Kamadore Touré
Journal: Pan Afr Med J (2014)
Keywords: magnetic resonance imaging, symptomatic epilepsy, intracerebral haemorrhage, marijuana
MeSH terms: Epilepsy, Tonic-Clonic / diagnosis, Epilepsy, Tonic-Clonic / etiology, Marijuana Abuse / complications, Marijuana Abuse / diagnosis, Case Reports, Adult, Age of Onset, Humans, Magnetic Resonance Imaging, Male

Marijuana is the most widely used illicit substance in the world. The relation between marijuana use and epileptic seizures is still controversial. We report a case of late onset epilepsy associated with marijuana abuse, with brain magnetic resonance imaging (MRI) findings. A 44-year-old patient was admitted for 03 isolated episodes of secondary generalized tonic-clonic seizures. He had a history of 26 years regular marijuana smoking. On admission, we found a tachycardia, psychomotor slowing, asymmetric hyperreflexia, bilateral Babinski sign without weakness. Laboratory work-up showed a high level of urine of Δ-9-tétrahydroxycannabinol. Electroencephalogram was normal. Brain MRI revealed abnormal signal intensities in the right frontal lobe and basal ganglia. Seizures cessation was obtained with anti-epileptic treatment. We suggest that marijuana abuse through vascular and toxic mechanisms could explain seizures in this case.
Urinary incontinence as a main clinical manifestation of early stage Wernicke's encephalopathy: a case report
Authors: Haitian He, Kebing Wang, Yang Wang, Jinbin Luo
Journal: Front Neurol (2023)
Keywords: wernicke encephalopathy, female patient, intestinal obstruction, urinary incontinence, vitamin b1
MeSH terms: Case Reports

Wernicke's encephalopathy (WE) is a condition caused by a deficiency of vitamin B1. While there have been many reported cases of WE in the literature, there are few reports on the early stages of the disorder. In this report, we present a case of WE with urinary incontinence as the main clinical manifestation. A 62-year-old female patient was admitted to the hospital due to intestinal obstruction and did not receive vitamin B1 supplements for 10 days. Three days after her operation, she developed urinary incontinence. She also had mild mental symptoms, such as a little indifference. After consultation with a urologist and neurologist, the patient was immediately given intramuscular vitamin B1 at a dosage of 200 mg/day. After 3 days of supplementing with vitamin B1, her urinary incontinence and mental symptoms improved and were completely resolved after 7 days of treatment. Surgeons should be aware that when long-term fasting patients have urinary incontinence, it may be a symptom of WE, and they should be supplied with vitamin B1 in a timely manner without extensive examination.
Laparo-Endoscopic Single Site Combined With Hysteroscopy to Diagnose and Treat Robert's Uterine Malformation: A Case Report
Authors: Xin-Yi Hong, Bo Ding, Yang Shen
Journal: Front Surg (2022)
Keywords: hysteroscopy combined with laparoscopy, laparo-endoscopic collaborative surgery, laparoscopy, müllerian anomalies, uterine malformation
MeSH terms: Case Reports

Asymmetric septate uterus, commonly known as Robert's uterus, is an exceedingly rare uterine malformation described for the first time in 1970 by Robert H. Currently, surgery is the therapy of choice for Robert's uterus, with surgical choices ranging from laparotomy to minimally invasive surgery. In this paper, we reported that a 14-year-old girl with primary dysmenorrhea that gradually worsened three months after menarche had surgery after many imaging evaluations, and that the intraoperative diagnosis was Robert's uterus. The diagnostic and therapeutic laparo-endoscopic single site(LESS) combined with hysteroscopy surgery for Robert's uterine abnormality was shown via a step-by-step presentation of the method accompanied by narrated video footage. During the ten-month postoperative follow-up period, the patient had monthly recurrences with normal menstrual volume and no dysmenorrhea, demonstrating that as a minimally invasive treatment, LESS combined with hysteroscopy surgery is a successful methodfor diagnosing and treating this specific malformation.
Mercaptopurine Treatment in an Adult Man with Orbital and Intracranial Rosai-Dorfman Disease
Authors: Valentina Arnao, Marianna Riolo, Giovanni Savettieri, Paolo Aridon
Journal: Case Rep Neurol Med (2016)

Background. Rosai-Dorfmann disease (RDD) is a rare, idiopathic non-Langerhans cell histiocytosis, affecting children and young adults, that commonly presents as painless, massive cervical lymphadenopathy with fever, weight loss, and polyclonal hypergammaglobulinemia. Cervical lymphadenopathy and extranodal involvement are the main presentations. On the contrary, ophthalmic involvement and localisation in the central nervous system are rare. Case Report. An old man was admitted to our hospital for first seizure. Brain imaging studies revealed on the left an extra-axial thickening of the dura mater with enhancement and perilesional oedema, infiltrating the sphenoorbital fissure and an isointense mass with enhancement in the orbital region with dislocation of the optic nerve. Pathological and immunohistochemistry examination of the bioptical specimen was consistent with a diagnosis of RDD. Treatment with levetiracetam and steroids was started obtaining only remission of seizures. Because of the patient refusal of the surgical debulking, therapy with mercaptopurine was started, stopping disease progression. Conclusion. So far, very few cases of extranodal RDD with multiple CNS lesions involving the orbital region have been described. Our case is significant because it is the first case in which the efficacy of mercaptopurine treatment has been documented in an adult patient with isolated ocular and intracranial RDD.
A case report of spontaneous pregnancy during hormonal replacement therapy for premature ovarian failure
Authors: Firoozeh Akbari Asbagh, Mahbod Ebrahimi
Journal: Iran J Reprod Med (2011)
Keywords: hormone replacement, hypergonadotropic amenorrhea, hypergonadotropic hypogonadism, premature ovarian failure, transient ovarian failure
MeSH terms: Case Reports

Background:
Premature ovarian failure (POF) is a common condition; its incidence is estimated to be as great as 1 in 100 by the age of 40 years. Physiologic replacement of ovarian steroid hormones seems rational until the age of normal menopause. Temporary return of ovarian function and pregnancy may occur rarely in women with POF. We report a case of POF who conceived during hormone replacement therapy.
Case:
A 30 years-old woman with confirmed POF after pelvic surgery and sever emotional stress conceived spontaneously.
Conclusion:
Return of ovarian function and achievement of pregnancy is possible in women with POF.
Native Valve Streptococcus bovis Endocarditis and Refractory Transfusion Dependent Iron Deficiency Anaemia Associated with Concomitant Carcinoma of the Colon: A Case Report and Review of the Literature
Authors: Abdul Azeez Ahamed Riyaaz, Randula Samarasinghe, Kolitha Sellahewa, Sabaratnam Sivakumaran, Manjula Sri Tampoe
Journal: Case Rep Infect Dis (2016)

Streptococcus bovis is found as a commensal organism in human gut and may become opportunistically pathogenic. Infective endocarditis is one of the commonest modes of presentation of this infection. The association between Streptococcus bovis endocarditis and colorectal cancer is well recognized. We report a case of Streptococcus bovis endocarditis along with a refractory iron deficiency anaemia associated with concomitant carcinoma of ascending colon in a 63-year-old male. Cooccurrence of these two conditions may cause a challenge in the management. Considering the strong association of colon cancer with Streptococcus bovis endocarditis, a detailed screening colonoscopy is mandatory following the diagnosis of the latter.
Mucinous Bladder Adenocarcinoma: Case Report and Literature Review
Authors: Bruno Mello R Santos, Julia Duarte de Souza, Rachel Silviano Brandão Correa Lima, Enaldo Melo de Lima
Journal: Case Rep Urol (2015)

Primary mucinous adenocarcinoma is an extremely rare type of bladder cancer, with aggressive behavior and poor response to chemotherapy and radiotherapy. The symptoms are similar to those of other bladder tumors. Surgery is the main treatment and remains the only curative option. There may be a progression from mucinous metaplasia to mucinous adenoma and then mucinous adenocarcinoma. We present the case of a 40-year-old woman with recurrent lower urinary tract infections, submitted to imaging tests, which showed a bladder tumor. After transurethral resection, pathology showed intestinal mucinous carcinoma. Metastatic work-up was negative. New surgical procedure showed metaplasia but no recurrence of the carcinoma. The patient is now using antibiotic prophylaxis and will undergo a cystoscopy every 3 months and computed tomography in one year.
Pneumatosis cystoides intestinalis in dermatomyositis: a case series report and literature review
Authors: Jianwen Liu, Ling Zhang, Shuo Chen, Xin Lu, Shanshan Li
Journal: Front Immunol (2023)
Keywords: asymptomatic, dermatomyositis, pathological mechanism, pneumatosis cystoides intestinalis, prognosis
MeSH terms: Dermatomyositis / complications, Pneumatosis Cystoides Intestinalis / complications, Pneumatosis Cystoides Intestinalis / etiology, Review, Case Reports, Adult, Humans, Research

Pneumatosis cystoides intestinalis (PCI) in adult dermatomyositis (DM) is rarely described. This report aimed to describe the clinical features and prognosis of PCI in six adult patients with DM (four with anti-MDA5 antibodies, one with anti-SAE antibodies, and one with anti-TIF-1γ antibodies). Except for one patient with transient abdominal pain, the remaining five patients were asymptomatic. PCI occurred in the ascending colon in all patients, of whom five had free gas in the abdominal cavity. No patients received excessive treatment, and PCI disappeared in four patients during the follow-up. Additionally, we reviewed previous studies on this complication.