OpenMed/multicare-articles huggingface dataset:
Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review
Authors: Dorothy A Fink, Lawrence M Nelson, Reed Pyeritz, Josh Johnson, Stephanie L Sherman, Yoram Cohen, Shai E Elizur
Journal: Front Genet (2018)
Keywords: fxpoi, poi, fertility, fragile x syndrome (fxs), irregular periods, primary ovarian insufficiency
MeSH terms: Review

Abnormalities in the X-linked FMR1 gene are associated with a constellation of disorders, which have broad and profound implications for the person first diagnosed, and extended family members of all ages. The rare and pleiotropic nature of the associated disorders, both common and not, place great burdens on (1) the affected families, (2) their care providers and clinicians, and (3) investigators striving to conduct research on the conditions. Fragile X syndrome, occurring more severely in males, is the leading genetic cause of intellectual disability. Fragile X associated tremor and ataxia syndrome (FXTAS) is a neurodegenerative disorder seen more often in older men. Fragile X associated primary ovarian insufficiency (FXPOI) is a chronic disorder characterized by oligo/amenorrhea and hypergonadotropic hypogonadism before age 40 years. There may be significant morbidity due to: (1) depression and anxiety related to the loss of reproductive hormones and infertility; (2) reduced bone mineral density; and (3) increased risk of cardiovascular disease related to estrogen deficiency. Here we report the case of a young woman who never established regular menses and yet experienced a 5-year diagnostic odyssey before establishing a diagnosis of FXPOI despite a known family history of fragile X syndrome and early menopause. Also, despite having clearly documented FXPOI the woman conceived spontaneously and delivered two healthy children. We review the pathophysiology and management of FXPOI. As a rare disease, the diagnosis of FXPOI presents special challenges. Connecting patients and community health providers with investigators who have the requisite knowledge and expertise about the FMR1 gene and FXPOI would facilitate both patient care and research. There is a need for an international natural history study on FXPOI. The effort should be coordinated by a global virtual center, which takes full advantage of mobile device communication systems.
Subarachnoid Hemorrhage Revealing a Spinal Dural Arterio-Venous Fistula: About a Rare Complication
Authors: Ibtissam El Ouali, Salma El Hous, Hassan Nouali
Journal: J Belg Soc Radiol (2023)
Keywords: mri, subarachnoid hemorrhage, spinal dural arteriovenous fistula
MeSH terms: Case Reports

Teaching Point: Subarachnoid hemorrhage is a rare complication of spinal dural arteriovenous fistulas (dAVF) with very characteristic imaging features, knowledge of which is crucial for positive diagnosis and rapid management.
Infantile recurrent parotitis: follow up study of five cases and literature review
Authors: Ivan Dieb Miziara, Victor Eulalio Sousa Campelo
Journal: Braz J Otorhinolaryngol (2005)
MeSH terms: Parotitis / diagnosis, Case Reports, Review, Adolescent, Age Factors, Child, Humans, Male, Parotitis / diagnostic imaging, Recurrence, Sex Factors, Sialography, Ultrasonography

Recurrent parotitis (RP) is defined as recurrent parotid inflammation, generally associated with non-obstructive sialectasis of the parotid gland. It is a rare condition, and its etiology remains an enigma.
Aim:
The purposes of the present study were (1) to relate the follow up of five RP cases; (2) to examine the role of sialography and ultrasound in diagnosis and follow up; and (3) to make a literature review.
Study design:
Series review.
Material and method:
We reviewed all recurrent parotitis cases from the files of the Otolaryngology Division at University of Sao Paulo, Brazil. The criteria for inclusion were at least two years of evolution and more than one year and a half follow-up in our service. We included five children in the study. Sialography was performed in the first evaluation and sonography was executed annually. Recurrent parotitis showed male predominance, and affected mainly children between the ages of 3 and 6. Frequency of crisis improved with time in all cases. Sialography showed sialectasis aspect in the affected glands and sonographic exams demonstrated hypoechoic and heterogeneous internal echoes. One case showed regression of ultrasound changes after clinical improvement.
Doubling of Decipher Biopsy Genomic Score Is Related to Disease Reclassification on Subsequent Surveillance Biopsy but Not Adverse Features on Radical Prostatectomy
Authors: Kamyar Ghabili, Nathan Paulson, Jamil S Syed, Cayce B Nawaf, Ghazal Khajir, Darryl T Martin, John Onofrey, Michael S Leapman, Angelique Levi, Jeffrey C Weinreb, Peter A Humphrey, Preston C Sprenkle
Journal: Case Rep Urol (2021)
MeSH terms: Case Reports

The utility of serial Decipher biopsy scores in a true active surveillance population is still unknown. In a man on active surveillance for low-risk prostate cancer, a doubling of the Decipher biopsy score within genomic low-risk category from first to the second biopsy related to biopsy reclassification to Gleason grade group 4 on the third biopsy. However, the final pathology at radical prostatectomy showed Gleason grade group 2 with an organ-confined disease. This case suggests that the genomic risk category of Decipher biopsy scores during active surveillance may be more informative than either the interval genomic score change or the biopsy Gleason grade group.
Squamous Cell Carcinoma of the Tongue with Metastasis to Myocardium: Report of a Case and Literature Review
Authors: Ali Shafiq, Fatima Samad, Eric Roberts, Jonathan Levin, Ubaid Nawaz, A Jamil Tajik
Journal: Case Rep Cardiol (2019)
MeSH terms: Case Reports

This is a case of a 43-year-old man who in 2014 was diagnosed with oral squamous cell carcinoma involving the tongue. He underwent extensive surgery that involved right tongue cancer resection and reconstruction with a free flap graft from his right forearm. He then was started on chemotherapy and radiation. Surveillance computed tomography in December 2016 showed a cardiac lesion in the left ventricular apex, which was confirmed by further echocardiography and cardiac magnetic resonance imaging. A biopsy of the mass revealed metastatic squamous cell carcinoma. He was deemed to not be a surgical candidate and continued on palliative chemotherapy. The patient had a very poor prognosis and eventually succumbed to the disease, highlighting the importance of surveillance imaging in such cases. A high index of suspicion on the part of the physician is needed to help in the early identification of these patients.
Pyoderma gangrenosum following anti-TNF therapy in chronic recurrent multifocal osteomyelitis: drug reaction or cutaneous manifestation of the disease? A critical review on the topic with an emblematic case report
Authors: Maurizio Romagnuolo, Chiara Moltrasio, Claudia Iannone, Maurizio Gattinara, Stefano Cambiaghi, Angelo Valerio Marzano
Journal: Front Med (Lausanne) (2023)
Keywords: adalimumab, adverse drug reaction, anti-tnf, chronic recurrent multifocal osteomyelitis, drug-induced pg, pustular lesion, pustular psoriasis, pyoderma gangrenosum
MeSH terms: Review

Chronic recurrent multifocal osteomyelitis (CRMO) is a rare autoinflammatory disease, clinically characterized by chronic and recurrent episodes of osteoarticular inflammation, that generally presents in children and adolescents. From a dermatological point-of-view, CMRO can be associated with skin rashes mainly including psoriasis, palmoplantar pustulosis and acne. Pyoderma gangrenosum (PG) is a rare immune-mediated inflammatory skin disease classified within the spectrum of neutrophilic dermatoses that, in some cases, has been reported as cutaneous manifestation in CMRO patients. This paper presents a 16-year female patient diagnosed with CMRO, who presented PG lesions located on the lower leg, that arose after the administration of the tumour necrosis factor (TNF)-α inhibitor adalimumab. Cases of PG have been reported in patients being treated with certain medications, including TNF-α antagonists, leading to classified them in a setting aptly termed "drug-induced PG." In this paper, we discuss the co-occurrence of PG and CRMO, in the light of recent evidence on the pathogenesis of both diseases and giving ample space to a literature review on drug induced PG. In our case, it is plausible that PG could be considered a cutaneous manifestation of CRMO, although the mechanisms underlying this intriguingly relationship remain to be fully unraveled.
Mosaic UPD(7q)mat in a patient with silver Russell syndrome
Authors: Jiasun Su, Jin Wang, Xin Fan, Chunyun Fu, ShuJie Zhang, Yue Zhang, Zailong Qin, Hongdou Li, Jingsi Luo, Chuan Li, Tingting Jiang, Yiping Shen
Journal: Mol Cytogenet (2017)
Keywords: maternal uniparental disomy, mosaicism, silver-russell syndrome
MeSH terms: Case Reports

Background:
Silver-Russell syndrome (SRS) is one of the imprinting disorders characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features. ~ 10% of SRS cases are known to be associated with maternal uniparental disomy of chromosome 7 (UPD(7)mat). Mosaic maternal segmental UPD of 7q (UPD(7q)mat) is very rare, had only been described in one case before.
Case presentation:
We reported a second case of mosaic segmental UPD involving 7q. The patient presented with dysmorphic features including thin and short stature, triangular face, moderate protruding forehead, relative macrocephaly, fifth toe clinodactyly and irregular teeth, meeting the clinical diagnosed criteria of SRS. This case indicated that ~ 80% of mosaic UPD(7q)mat lead to the manifestation of main phenotypes of Silver-Russell syndrome.
Conclusions:
Our case support the notion that there are genes control postnatal growth on long arm of chromosome 7 and indicate that ~ 80% of UPD(7q)mat mosaicism level was contributed to the SRS phenotype.
AAA Rupture and Psoas Hematoma due to Type II Endoleak from Inferior Mesenteric Artery "Unusual" Collaterals
Authors: Panagiotis G Theodoridis, Dimitrios N Staramos, Nikolaos Ptochis, Ioannis A Papailiou, Ilias Dodos, Nikolaos Iatrou, Anastasios G Potouridis, Konstantinos Dervisis
Journal: Case Rep Vasc Med (2017)
MeSH terms: Case Reports

Although endovascular aneurysm repair (EVAR) in the abdominal aorta has reduced the perioperative mortality when compared with open repair, the need for reintervention after complications such as endoleak may be presented in up to 20% of the cases. Type II endoleak from branch vessels is often benign but can potentially be associated with progressive abdominal aortic aneurysm growth and sac expansion. We present a rare case of a patient who presented with sac expansion and psoas hematoma due to Type II endoleak from "unusual" collaterals of IMA and was treated successfully with endoleak microembolization and percutaneous decompression of the hematoma.
Case Report: Pemphigoid Nodularis-Five Patients With Many Years of Follow-Up and Review of the Literature
Authors: Konrad Szymanski, Alicja Adaszewska, Beata Jakubowska, Cezary Kowalewski, Ewelina Pietrzyk, Katarzyna Wozniak
Journal: Front Immunol (2022)
Keywords: antidepressants, clobetasol propionate, nodular mucous membrane pemphigoid, pemphigoid nodularis, treatment
MeSH terms: Pemphigoid, Bullous / diagnosis, Pemphigoid, Bullous / drug therapy, Prurigo / pathology, Case Reports, Review, Research Support, Non-U.S. Gov't, Aged, Clobetasol / therapeutic use, Female, Follow-Up Studies, Humans, Skin, Clobetasol

Pemphigoid nodularis is a rare form of pemphigoid that joins the clinical picture of prurigo nodularis and the immunological features of bullous pemphigoid, which is therapeutically challenging. Here, we analyze five female patients with a long-lasting course of nodular pemphigoid in terms of clinical and immunological characteristics and therapy. All the patients fulfilled clinical and immunological criteria of nodular pemphigoid. We applied numerous techniques allowing the proper diagnosis: direct and indirect immunofluorescence, salt split skin, ELISA, BIOCHIP, and fluorescence overlay antigen mapping using laser scanning confocal microscopy. Our study showed that 4 of 5 patients fulfilled the clinical and immunological criteria of nodular bullous pemphigoid. Two out of 4 patients presented exclusively nodular lesions; in the other two patients, blisters and erythematous lesions preceded prurigo-like lesions by a few years. The remaining patient had clinical and immunological criteria of nodular mucous membrane pemphigoid, presenting oral erosions, scarring conjunctivitis, and numerous disseminated nodules on the skin. All the patients were treated with multiple medicines; however, it was observed that the use of clobetasol propionate on the entire body plus antidepressants best controlled the disease. Pemphigoid nodularis mainly occurs in elderly women. In cases with coexisting psychological problems, antidepressants should be considered as an important complementary therapy to the basic one with clobetasol propionate.
Necrotizing Soft Tissue Infections of the Breast: A Potentially Lethal Surgical Emergency
Authors: Shariful Islam, Aneela Shah, Anthony Maughn, Sarah Dial, Avidesh Mahabir, Vijay Naraynsingh, Patrick Harnarayan
Journal: Case Rep Surg (2023)
MeSH terms: Case Reports

Necrotizing soft tissue infection (NSTI) of the breast is an extremely rare event in surgical practice. It is considered the most aggressive form of soft tissue infection and a true surgical emergency. It is also associated with a high risk of mortality if not diagnosed promptly. Few cases have been documented in the literature; the exact etiology and risk factors vary from those involving the limbs, trunk, and perineum. Early recognition, prompt surgical treatment, and broad-spectrum antibiotic therapy are crucial for reducing morbidity and mortality. These reports present cases of NSTIs in breasts with unique etiologies and challenges in their management.
Minimally Invasive Correction of Prolapsed, Gangrenous Distal Limb of Loop Ileostomy to End-Loop Stoma
Authors: John Shelton, Sittampalam Rajendra
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

Introduction:
Prolapse can be a complication of loop stomas. A prolapsed stoma which cannot be reduced or complicated with strangulation needs surgical correction. This case report describes a minimal access correction of a prolapsed gangrenous distal limb of ileostomy. Presentation of Case. A 67-year-old male patient was diagnosed with a lower rectal carcinoma, staged T3N1M0. Following neoadjuvant chemoradiation, he underwent a laparoscopic anterior resection with a defunctioning loop ileostomy. One month later, he presented with prolapse of the distal limb of the ileostomy. The limb was gangrenous and the gangrenous part was removed by using a linear GI stapler, and the loop ileostomy was converted to end-loop ileostomy. Discussion. It is a simple and technically feasible method for treating a prolapsed loop of the stoma. It is less invasive and has minimal postoperative complications. This technique reduces the duration of the hospital stay of the patient.
Conclusion:
Stapled assisted correction of prolapsed stoma avoids unnecessary laparotomy and aids in expedite recovery after surgery. It is beneficial for a surgeon to be familiar with the minimal access correction for stoma prolapse.
Case Report: Use of Obinutuzumab as an Alternative Monoclonal Anti-CD20 Antibody in a Patient With Refractory Immune Thrombocytopenia Complicated by Rituximab-Induced Serum Sickness and Anti-Rituximab Antibodies
Authors: Jennifer R Blase, David Frame, Thomas F Michniacki, Kelly Walkovich
Journal: Front Immunol (2022)
Keywords: itp (idiopathic thrombocytopenic purpura), case report, obinutuzumab, rituximab, serum sickness
MeSH terms: Purpura, Thrombocytopenic, Idiopathic / chemically induced, Purpura, Thrombocytopenic, Idiopathic / diagnosis, Purpura, Thrombocytopenic, Idiopathic / drug therapy, Serum Sickness / chemically induced, Serum Sickness / diagnosis, Case Reports, Review, Antibodies, Monoclonal, Humanized, Antibodies, Monoclonal, Murine-Derived / therapeutic use, Antibodies, Neutralizing / therapeutic use, Female, Humans, Rituximab / adverse effects, Antibodies, Monoclonal, Humanized, Antibodies, Monoclonal, Murine-Derived, Antibodies, Neutralizing, Rituximab, obinutuzumab

Management of refractory immune thrombocytopenia frequently involves rituximab, a chimeric anti-CD20 monoclonal antibody, to target B cells and induce remission in most patients. However, neutralizing antibodies to rituximab that nullify therapeutic response and may lead to serum sickness have been rarely reported. Here, we present a case of a young adult woman with Evans syndrome treated with rituximab, complicated by the development of serum sickness, acute respiratory distress syndrome, and platelet refractoriness presumed secondary to neutralizing antibodies to rituximab. She was successfully treated with the humanized anti-CD20 monoclonal antibody, obinutuzumab, with subsequent symptom resolution. Additionally, a review of 10 previously published cases of serum-sickness associated with the use of rituximab for idiopathic thrombocytopenic purpura (ITP) is summarized. This case highlights that recognition of more subtle or rare symptoms of rituximab-induced serum sickness is important to facilitate rapid intervention.
A rare case of an immunocompetent patient with isolated pulmonary mucormycosis
Authors: Hamidreza Rouientan, Abolfazl Gilani, Roham Sarmadian, Mohammad Rezaei Zadeh Rukerd
Journal: IDCases (2023)
Keywords: case report, immunocompetent, pneumonia, pulmonary mucormycosis
MeSH terms: Case Reports

As one of the most lethal infections caused by fungi, pulmonary mucormycosis usually affects patients who are immunocompromised. Isolated pulmonary mucormycosis in immunocompetent patients is very rare.This report describes a 65-year-old immunocompetent man, who was first treated with antibiotics after being diagnosed with a lung infection, then after the lack of response to treatment, he was diagnosed with mucormycosis in further investigations. Finally, the patient died due to a lack of response to treatment. Despite its rarity, it is important to consider other differential diagnoses such as pulmonary mucormycosis if the pneumonic process does not respond to medical treatment.
Case report: Bilateral pleural effusion secondary to late migration of a tunneled central venous catheter in a patient affected by high risk neuroblastoma
Authors: Tommaso Domenico D'Angelo, Giorgio Persano, Alessandro Crocoli, Cristina Martucci, George Koshy Parapatt, Gian Luigi Natali, Alessandro Inserra
Journal: Front Pediatr (2022)
Keywords: bilateral pleural effusion, case report, central venous catheter complication, central venous catheter migration, late central venous catheter mechanical complication
MeSH terms: Case Reports

The insertion of long-term central venous catheters is a standard of care for children affected by malignancies, although it can be associated with life-threatening complications. The present paper reports an unusual mechanical complication related to the use of a long term tunneled central venous catheter in a pediatric oncologic patient. An 18 months old child, diagnosed with stage M high-risk retroperitoneal neuroblastoma, underwent ultrasound-guided placement of a 6 Fr bilumen long-term tunneled central venous catheter in the right internal jugular vein prior to the beginning of induction chemotherapy. The correct position of the distal tip of the catheter was confirmed by fluoroscopy. After 4 months of regular use of the device, the patient experienced neck swelling during high-dose chemotherapy infusion. A chest x-ray showed a dislocated catheter and bilateral pleural effusion. CT scan demonstrated the tip of the catheter rupturing the medial wall of the right jugular vein and entering the mediastinum; furthermore, pneumomediastinum, subcutaneous neck emphysema and bilateral pleural effusion were noticed and a thrombus was evident in the right jugular vein at the insertion in the brachiocephalic vein. The patient was then transferred to the Intensive Care Unit and bilateral thoracostomy tubes were placed urgently (500 mL of clear fluid were evacuated from pleural spaces). The dislocated catheter was removed electively on the following day under fluoroscopy. Despite ultrasound-guided placement and long-term uneventful use of the catheter, life-threatening central venous catheter-related mechanical complications can occur; the current case report emphasizes the importance of careful monitoring of patients with central venous catheters in order to quickly diagnose and treat potentially lethal complications.
Endometriosis Surgery during the First Wave of the COVID-19 Pandemic: A Brazilian Single Institution Experience
Authors: Claudio Peixoto Crispi Jr, Claudio Peixoto Crispi, Eduardo de Almeida Nogueira, Pietro Cardoso Balthar, Camilla Gabriely Souza Guerra, Marlon de Freitas Fonseca
Journal: Case Rep Obstet Gynecol (2021)
MeSH terms: Case Reports

Introduction. Early in the 2020 Coronavirus pandemic stay-at-home guidelines, there were public health orders that elective surgeries be deferred to prioritize hospital beds for critically ill COVID-19 patients. Besides, several reasons led to the postponement of consultations, diagnostic tests, and elective therapeutic procedures. As a result, some women with endometriosis faced chronification of their pain and decreased prospects for pregnancy. The aim of this study was to describe individual responses to minimally invasive complete excision of endometriosis through 40 days of follow-up of women whose endometriosis was considered severe enough to proceed with surgery during the fourth, fifth, and sixth months of constraints imposed by the pandemic. Preventive strategies and safety measures employed to protect patients and staff from acquiring or transmitting Coronavirus infection are presented. Case Presentation. This case series report enrolled 11 consecutive Brazilian women (ages 22 to 47 y) who underwent minimally invasive surgical treatment of endometriosis between June 26 and August 17, 2020. Cases of endometriosis requiring more urgent surgery were promptly identified and considered individually. The strict safety measures were well accepted by patients. No women developed any flu-like or COVID-19-related symptoms (cough, dyspnea, fever, or anosmia) in the 40 days of postoperative follow-up. One of the most praised measures reported by patients was the routine testing of the patient, the person who would accompany her in the hospital, and all medical staff and employees. Discussion. It is feasible to safely perform elective endometriosis surgery in selected cases during a pandemic.