OpenMed/multicare-articles huggingface dataset:
Identification of a novel deletion mutation in DPY19L2 from an infertile patient with globozoospermia: a case report
Authors: You-Zhu Li, Rong-Feng Wu, Xing-Shen Zhu, Wen-Sheng Liu, Yuan-Yuan Ye, Zhong-Xian Lu, Na Li
Journal: Mol Cytogenet (2020)
Keywords: cnv sequencing, case report, dpy19l2, gene mutations, globozoospermia
MeSH terms: Case Reports

Background:
Male infertility is an increasing medical concern worldwide. In most cases, genetic factors are considered as the main cause of the disease. Globozoospermia (MIM102530) (also known as round-headed sperm) is a rare and severe malformed spermatospermia caused by acrosome deficiency or severe malformation. A subset of genetic mutations, such as DNAH6, SPATA16, DPY19L2, PICK1, and CCIN related to globozoospermia, have been reported in the past few years. The DPY19L2 mutation is commonly found in patients with globozoospermia. Herein, a 180-kbp homozygote deletion at 12q14.2 (g.63950001-64130000) was identified by copy number variation sequencing (CNVseq) in a patient with a globozoospermia, including the complete deletion of DPY19L2.
Case presentation:
A 27-year-old patient at the First Affiliated Hospital of Xiamen University was diagnosed with infertility because, despite normal sexual activity for 4 years, his wife did not conceive. The patient was in good health with no obvious discomfort, no history of adverse chemical exposure, and no vices, such as smoking and drinking. The physical examination revealed normal genital development. However, semen tests showed a normal sperm count of 0% and the morphology was the round head. Sperm cytology showed that acrosomal enzyme was lower than normal. Reproductive hormones were in the normal range. B ultrasound did not show any abnormal seminal vesicle, prostate, bilateral testis, epididymis, and spermatic veins. The karyotype was normal, 46, XY, and no microdeletion of Y chromosome was detected. However, a homozygous deletion mutation was found in DPY19L2, which was further diagnosed as globozoospermia.
Conclusions:
The present study reported a male infertility patient who was diagnosed with globozoospermia. The analysis of gene mutations revealed that DPY19L2 had a homozygous mutation, which was the primary cause of globozoospermia.
Nephrolithiasis caused by ceftriaxone in a 3-year-old child with ureteropelvic junction obstruction
Authors: Vesna Stojanovic, Gordana Djuric Vijatov
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

We report the case of a 3-year-old boy with urinary tract malformation (left sided stenosis of the ureteropelvic junction) which was precipitating factor for ensuing nephrolithiasis of the left kidney during the therapy with ceftriaxone. The treatment with spasmolytics was initiated, together with the forced parentheral hydration. After 3 weeks, there was no evidence of calculi in the urinary tract.
Progressively confluent monkeypox lesions with necrosis
Authors: Kolton Smith, Kelly Tyson, Raeesa Hossain, Alexandra Young, Jillian Melnick
Journal: Oxf Med Case Reports (2023)
MeSH terms: Case Reports

Human monkeypox virus became a burgeoning global health issue when outbreaks were identified in over 100 countries beginning in early 2022. We describe the case of a 38-year-old male with acquired immunodeficiency syndrome who presented one month after the development of painful anal lesions, subsequently confirmed to be monkeypox. The patient was unsuccessfully treated outpatient with multiple courses of oral tecovirimat before presenting to the emergency department for continual lesion progression. Given his AIDS, the patient was at-risk for poor response to oral treatment due to the potential for malabsorption from disruptions in his gut microbiome as well as inability to consume the recommended 25 grams of fat per dose needed for absorption. The identification of patients at-risk for severe disease is imperative as this population may be better suited for intravenous tecovirimat treatment due to the difficult parameters required for optimal absorption of oral therapy.
Death by suicide during COVID-19 infection: Two case reports
Authors: Majid Alabdulla, Rajeev Kumar
Journal: Qatar Med J (2023)
Keywords: covid-19, suicide, mental health, psychosocial, suicidal behavior

A range of psychiatric disorders has been recognized with coronavirus disease 2019 (COVID-19) infection, including acute stress, anxiety, depression, suicidal behavior, and post-traumatic stress disorder. Among those, the most worrying is death by suicide, which has been associated with COVID-19-related psychiatric disorders and psychosocial stressors. We report the first two cases of death by suicide, unlikely due to any current psychiatric disorders, while undergoing treatment in two inpatient facilities designated for COVID-19 patients. Case 1 was a 40-year-old man who presented to the emergency department with symptoms of a viral infection. This led to the diagnosis of COVID-19. While undergoing treatment in an inpatient facility, 3 weeks later, he died by hanging. Case 2 was a 25-year-old man with COVID-19-related upper respiratory tract symptoms and a possible undiagnosed pre-existing anxiety disorder. While undergoing treatment in a medical unit of a COVID-19-designated hospital, a week after the diagnosis of COVID-19, the patient died after jumping off the multistory hospital building. In both cases, there had been a diagnosis of COVID-19, and treatment was provided within an inpatient facility. Both patients were unvaccinated and had no evidence of a current psychiatric disorder or any warning signs of suicidal intent. Death by suicide can occur in COVID-19 patients without any warning signs of a psychiatric disorder or evidence of any apparent distress. Therefore, even without a diagnosable mental disorder, clinicians should still be vigilant about potential suicidal risk in patients with COVID-19 infection.
Portal Hypertension in Childhood Bilateral Wilms' Tumor Survivor: An Excellent Indication for TIPS
Authors: Ghassan Nakib, Valeria Calcaterra, Marco Brunero, Ilaria Goruppi, Pietro Quaretti, Lorenzo Paolo Moramarco, Raffaele Bruno, Alessandro Raffaele, Gloria Pelizzo
Journal: Case Rep Gastrointest Med (2013)

Introduction. Increased pressure in portal venous system is relatively a rare complication after chemoradiotherapy for Wilms' tumor (WT). In paediatric population, feasibility and efficacy of transjugular intrahepatic portosystemic shunt (TIPS) in portal hypertension nonresponsive to medical or endoscopic treatment have been recently advocated. We report a case of TIPS positioning in a 15-year-old girl with portal hypertension as a long-term sequel of multimodality therapy in bilateral WT. Case Report. Two-year-old girl was diagnosed for bilateral WT. Right nephrectomy with left heminephrectomy and chemoradiotherapy were performed. At 7 years of age, the first gastrointestinal bleeding appeared, followed by another episode two years later, both were treated successfully with beta-blockers. At 15 years of age, severe unresponsive life-threatening gastroesophageal bleeding without hepatosplenomegaly was managed by TIPS. Reduction of the portosystemic pressure gradient was obtained. Conclusion. TIPS positioning for portal hypertension in long-term tumors' sequel is feasible and could be considered as an additional indication in paediatric patients.
Disseminated infections due to Immune Reconstitution Inflammatory Syndrome after highly active antiretroviral therapy--report of 3 cases from Nigeria
Authors: Dimie Ogoina, Victor Adekunle, Reginald Obiako, Abdulaziz Umar, Michael Akolawole, Joseph Ovosi
Journal: Pan Afr Med J (2011)
Keywords: haart, herpes, hiv, iris tuberculosis, immune reconstitution inflammatory syndromes, nigeria, vzv
MeSH terms: Anti-HIV Agents / adverse effects, Antiretroviral Therapy, Highly Active / adverse effects, HIV Infections / complications, HIV-1, Herpes Zoster / etiology, Immune Reconstitution Inflammatory Syndrome / complications, Respiratory Tract Neoplasms / etiology, Sarcoma, Kaposi / etiology, Skin Neoplasms / etiology, Tuberculosis, Miliary / etiology, Viremia / etiology, Case Reports, Acyclovir / analogs & derivatives, Acyclovir / therapeutic use, Adult, Anti-HIV Agents / therapeutic use, Antiviral Agents / therapeutic use, CD4 Lymphocyte Count, Disease Susceptibility, Fatal Outcome, Female, HIV Infections / drug therapy, Herpes Zoster / drug therapy, Humans, Nigeria, Valacyclovir, Valine / analogs & derivatives, Valine / therapeutic use, Viral Load, Viremia / drug therapy, Young Adult, Anti-HIV Agents, Antiviral Agents, Valine, Valacyclovir, Acyclovir

Immune Reconstitution Inflammatory Syndromes (IRIS) are exaggerated pathological inflammatory reactions occurring after initiation of highly active antiretroviral therapy (HAART) due to exuberant immune responses to occult or apparent opportunistic infections or cancers. In view of paucity of studies from Nigeria, we report 3 cases of IRIS presenting as disseminated infections in HIV-1 infected patients initiating HAART. The first case was a previously healthy female who developed disseminated tuberculosis after 4 weeks of regular HAART. Her HAART regimen was continued and she improved after commencement of anti-tuberculosis drugs, with evidence of progressive increase in CD4 cell count. The second case was a HAART-experienced female who stopped her drugs for 4 months. Two months after recommencement of her previous HAART regimen, she developed features of disseminated herpes zoster infection, despite evidence of decrease in viral load by 95%. HAART was continued and she recovered completely after receiving valaciclovir tablets and antibiotics. The third patient was a female student who was commenced HAART on account of chronic cough and weight loss. Three months after regular HAART, she developed features of disseminated Kaposi's sarcoma involving the skin, oropharynx and lungs, despite evidence of 42% increase in CD4 cell count. Unfortunately, she rapidly deteriorated and died during the course of management. Clinicians should be alert to the possibility of IRIS in HIV-infected patients initiated or re-initiated on HAART. There is need for future prospective studies determining risk factors for IRIS in HIV-infected patients from Nigeria.
Paracetamol self-poisoning: when oral N-acetylcysteine saves life? a case report
Authors: Said Benlamkaddem, Imane Iken, Nawfal Houari, Abderrahim Elbouazzaoui, Brahim Boukatta, Hicham Sbai, Sanae Achour, Nabil Kanjaa
Journal: Pan Afr Med J (2018)
Keywords: n-acetyl cystein, paracetamol self-poisoning, rumack-mathew nomogram, case report, liver failure, paracetamol serum concentration
MeSH terms: Acetaminophen / poisoning, Acetylcysteine / administration & dosage, Antidotes / administration & dosage, Case Reports, Acetaminophen / pharmacokinetics, Administration, Oral, Drug Overdose, Female, Humans, Suicide, Attempted, Tablets, Treatment Outcome, Young Adult, Antidotes, Tablets, Acetaminophen, Acetylcysteine

Paracetamol is the most widely drug involved in accidental paediatric exposures and deliberate self-poisoning cases because of its availability. N-acetyl cystein is the main treatment for this poisoning. We report a case of a 24-year-old Arab female who has deliberately ingested 100 tablets of 500 mg paracetamol each (50g). Her first examination was normal. She has received oral N-acetyl cystein (NAC) 6 hours after the ingestion. Serum paracetamol level done 18 hours post ingestion was 900 mg/l. On review the next days, she did not develop any symptoms of liver failure. However, due to the massive paracetamol ingestion associated with high serum paracetamol levels, oral NAC was continued for 3 days. The patient was discharged well on the fifth day of hospitalization. Our patient has ingested one of the highest paracetamol overdose (50g) with the highest paracetamol blood levels ever reported in medical literature. She was treated, six hours after ingestion, with oral NAC for 3 days without any side effects.
Placenta Accreta Spectrum Disorder in a Patient with Six Previous Caesarean Deliveries: Step by Step Management
Authors: Calagna Gloria, Polito Salvatore, Labate Francesco, Guiglia Rosa Anna, De Maria Francesca, Bisso Chiara, Cucinella Gaspare, Calì Giuseppe
Journal: Case Rep Obstet Gynecol (2021)
MeSH terms: Case Reports

The definition placenta accreta spectrum disorders (PAS) introduced by FIGO (International Federation of Gynaecology and Obstetrics) indicates an abnormal, pathological adherence or invasion of the placenta. The growing worldwide incidence of this pathological entity, and the possible serious correlated surgical risks, has caused a significant increase in attention among the scientific community. Previous caesarean delivery and presence of placenta previa are the main risk factors for the onset of PAS. Here, we present the intriguing case of a 39-year-old woman, at the 33rd week of gestation, with six previous caesarean sections and with a diagnosis of placenta previa accreta. At our referral center for PAS disorders, we successfully managed this difficult case with the help of a multidisciplinary skilled team.
Myocarditis Concurrent with Sweet Syndrome: A Presentation of Acute Myeloid Leukemia
Authors: Christopher G Burkeen, David Pottinger, Chaitanya Iragavarapu, Reshma Ramlal, Gerhard Hildebrandt
Journal: Case Rep Hematol (2021)
MeSH terms: Case Reports

Acute myeloid leukemia (AML) is the most common acute leukemia in American adults and portends a poor prognosis if untreated. Commonly, AML presents with symptoms related to concurrent leukopenia, anemia, or thrombocytopenia; however, due to its ability to affect many organ systems in the body, AML can have a highly varied clinical presentation. One such presentation is myocarditis, which is a rarely reported manifestation of AML. Myocarditis can have a varied clinical picture and often requires exclusion of other causes of cardiac dysfunction. Sweet syndrome, also known as acute febrile neutrophilic dermatosis, is another presentation of AML; however, it is more commonly associated with AML than cardiac involvement. Sweet syndrome can occur in patients with an already established malignancy or can occur de novo in a patient with previously undiagnosed cancer and, interestingly, can also be accompanied by extracutaneous manifestations, one of which is myocarditis. Herein, we report a case of a 45-year-old male with a history of obesity and depression who presented with chest pain, a tender and diffuse rash, and pancytopenia. Heart catheterization performed at outside institution was negative for coronary artery disease. Cardiac MRI images were compatible with myocarditis. Dermal biopsy of the rash was consistent with sweet syndrome. Peripheral blood flow cytometry and bone marrow biopsy confirmed the diagnosis of AML. He was treated with an induction chemotherapy regimen of 7 days of cytarabine and 3 days of daunorubicin with resolution of his chest pain and skin lesions. The patient had persistent leukemia cells on day 14 postinduction bone marrow biopsy and was treated with high-dose cytarabine reinduction treatment. Bone marrow biopsy with count recovery after reinduction therapy revealed complete response (CR).
A Case of Invasive Sinonasal Carcinosarcoma: The Importance of Early Detection
Authors: Jason Yuen, Vinay Varadarajan, Marios Stavrakas, Samiul Muquit, Hisham Khalil
Journal: Case Rep Otolaryngol (2018)
MeSH terms: Case Reports

Sinonasal carcinosarcomas represent rare neoplasms, with aggressive character and unfavourable prognosis. We present a case of extensive sinonasal carcinosarcoma extending into the anterior cranial fossa and into the orbit and also a review of the current international literature regarding this rare yet aggressive neoplasm. There is currently a lack of specific guidelines on the optimal management of sinonasal carcinosarcoma and the treatment represents a challenge for the clinician. The key message that we would like to disseminate to our colleagues is the importance of suspicion and early detection, as well as the necessity to adopt a holistic approach when counselling patients.
Hyperhemolytic Syndrome Complicating a Delayed Hemolytic Transfusion Reaction due to anti-P1 Alloimmunization, in a Pregnant Woman with HbO-Arab/β-Thalassemia
Authors: Zoe Bezirgiannidou, Anna Christoforidou, Eftychia Kontekaki, Athanasios G Anastasiadis, Spyros I Papamichos, Helen Menexidou, Dimitrios Margaritis, Georges Martinis, Elpis Mantadakis
Journal: Mediterr J Hematol Infect Dis (2016)
MeSH terms: Case Reports

Background:
Hyperhemolytic Syndrome or Hyperhemolytic Transfusion Reaction (HHTR), a life-threatening subset of Delayed Hemolytic Transfusion Reaction (DHTR) is characterized by destruction of both transfused and autologous erythrocytes evidenced by a fall in post transfusion hemoglobin below the pre-transfusion level.
Case report:
We describe a case of DHTR due to anti-P1 alloimmunization manifesting with hyperhemolysis in a 30-year-old Greek Pomak woman with thalassemia intermedia (HbO-Arab/β-thalassemia), during the11th week of her first gestation. She was successfully managed with avoidance of further transfusions and administration of IVIG and corticosteroids.
Conclusion:
A high index of suspicion for HHTR is of vital importance among clinicians especially since optimal methods for its prevention and treatment remain yet to be defined. Early recognition of HHTR leading to prompt cessation of additional transfusions and initiation of immunosuppressive treatment can be life-saving, especially in clinical settings where limited therapeutic options are available, such as in pregnancy.
The rare entity of bilateral and unilateral neuroendocrine metastases to the breast: a case series and literature review
Authors: Paola Zagami, Eleni Kandaraki, Giuseppe Renne, Franco Grimaldi, Francesca Spada, Alice Laffi, Nicola Fazio
Journal: Ecancermedicalscience (2020)
Keywords: bilateral, breast metastases, neuroendocrine, neuroendocrine neoplasms, neuroendocrine tumours
MeSH terms: Case Reports

Introduction:
Primary neuroendocrine neoplasms (NENs) in the breast are very rare. Until 2011, the prevalence was 0.1% of all breast lesions and 1% of all NENs, whereas metastatic breast NENs represent 1%-2% of all breast tumours. However, it seems that over the last 5 years the diagnostic frequency of breast NENs has increased, probably for more alert specialists and advanced diagnostic tools, leading to a prevalence of 2%-5% of diagnosed breast cancers, mostly in the elderly population. Breast metastases from extramammary malignancies are uncommon and bilateral ones are even more uncommon, with few reported in the literature. We describe four clinical settings of breast metastases from different NENs and the multidisciplinary approach for diagnosis and treatment.
Methods:
Four patients were found to have NEN primaries metastasised to the breast. A literature review was conducted to identify similar cases and characterise breast metastases from neuroendocrinal tumors (NETs).
Results:
Two patients presented with bilateral breast metastases (one with well-differentiated panNET and another with atypical lung carcinoid) and two had unilateral (one with moderately differentiated lung NET and one with atypical lung carcinoid). There are about 13 cases of NEN breast metastases reported in the English literature. The ileum is the most common primary site, followed by the appendix, duodenum, pancreas and lung.
Conclusion:
Breast lesions from extramammary primary often pose a diagnostic challenge, since a breast nodule can be the first and often the only presentation of the disease. However, differentiating between primary and secondary NEN breast lesions is essential, owing to different clinical management and prognosis.
Chronic maxillary sinusitis associated with an unusual foreign body: a case report
Authors: Yunus Feyyat Sahin, Togay Muderris, Sami Bercin, Ergun Sevil, Muzaffer Kırıs
Journal: Case Rep Otolaryngol (2012)
MeSH terms: Case Reports

Foreign bodies in maxillary sinuses are unusual clinical conditions, and they can cause chronic sinusitis by mucosal irritation. Most cases of foreign bodies in maxillary sinus are related to iatrogenic dental manipulation and only a few cases with non-dental origin are reported. Oroantral fistulas secondary to dental procedures are the most common way of insertion. Treatment is surgical removal of the foreign body either endoscopically or with a combined approach, with Caldwell-Luc procedure if endoscopic approach is inadequate for visualisation. In this case, we present a 24-year-old male patient with unilateral chronic maxillary sinusitis due to a wooden toothpick in left maxillary sinus. The patient had a history of upper second premolar tooth extraction. CT scan revealed sinus opacification with presence of a foreign body in left maxillary sinus extending from the floor of the sinus to the orbital base. The foreign body, a wooden toothpick, was removed with Caldwell-Luc procedure since it was impossible to remove the toothpick endoscopically. There was no obvious oroantral fistula in the time of surgery, but the position of the toothpick made us to think that it was inserted through a previously healed fistula, willingly or accidentally.
Case report: biallelic DNMT3A mutations in acute myeloid leukemia
Authors: Cosimo Cumbo, Paola Orsini, Luisa Anelli, Antonella Zagaria, Maria Federica Iannò, Loris De Cecco, Crescenzio Francesco Minervini, Nicoletta Coccaro, Giuseppina Tota, Elisa Parciante, Maria Rosa Conserva, Immacolata Redavid, Francesco Tarantini, Angela Minervini, Paola Carluccio, Anna De Grassi, Ciro Leonardo Pierri, Giorgina Specchia, Pellegrino Musto, Francesco Albano
Journal: Front Oncol (2023)
Keywords: dnmt3a, acute myeloid leukemia, biallelic mutations, cell differentiation, hypermethylation
MeSH terms: Case Reports

DNMT3A gene mutations, detected in 20-25% of de novo acute myeloid leukemia (AML) patients, are typically heterozygous. Biallelic variants are uncommon, affecting ~3% of cases and identifying a worse prognosis. Indeed, two concomitant DNMT3A mutations were recently associated with shorter event-free survival and overall survival in AML. We present an AML case bearing an unusual DNMT3A molecular status, strongly affecting its function and strangely impacting the global genomic methylation profile. A 56-year-old Caucasian male with a diagnosis of AML not otherwise specified (NOS) presented a complex DNMT3A molecular profile consisting of four different somatic variants mapping on different alleles (in trans). 3D modelling analysis predicted the effect of the DNMT3A mutational status, showing that all the investigated mutations decreased or abolished DNMT3A activity. Although unexpected, DNMT3A's severe loss of function resulted in a global genomic hypermethylation in genes generally involved in cell differentiation. The mechanisms through which DNMT3A contributes to AML remain elusive. We present a unique AML case bearing multiple biallelic DNMT3A variants abolishing its activity and resulting in an unexpected global hypermethylation. The unusual DNMT3A behavior described requires a reflection on its role in AML development and persistence, highlighting the heterogeneity of its deregulation.