OpenMed/multicare-articles huggingface dataset:
Case Report: a novel chromosomal insertion, 46, XY, inv ins(18;2)(q11.2;q13q22), in a patient with infertility and mild intellectual disability
Authors: Murat Kaya, İlknur Suer, Şükrü Öztürk, Kıvanç Çefle, Birsen Karaman, Şükrü Palanduz
Journal: F1000Res (2019)
Keywords: infertility, insertion, mild intellectual disability
MeSH terms: Chromosome Inversion, Infertility, Male / genetics, Intellectual Disability / genetics, Mutagenesis, Insertional, Case Reports, Adult, Chromosomes, Human, Pair 18 / genetics, Chromosomes, Human, Pair 2 / genetics, Comparative Genomic Hybridization, Humans, Male

Infertility is an important health problem affecting 15% of couples worldwide. Intellectual disability (ID) is characterized with significant impairment of intellectual function, adaptive daily life skills and social skills. Insertion is a rare chromosomal rearrangement causing infertility and ID. Here, we report a 39-year-old man presenting with primary infertility and mild ID. The patient's spermiogram was consistent with azoospermia. Conventional cytogenetic analysis showed a novel inversion/insertion type of chromosomal aberration involving chromosomes 18 and 2: 46, XY, inv ins(18;2)(q11.2;q13q22). We carried out the array comparative genomic hybridization analysis to confirm the cytogenetic findings. Y micro-deletion analysis demonstrated that the AZF region as intact. We suggest that the novel insertion found in this case [46, XY, inv ins(18;2)(q11.2;q13q22)] may have caused infertility and mild ID in our patient. To the best of our knowledge, this chromosomal insertion has not previously been reported.
Image-Guided Hyaluronic Acid Injection and Knee Bracing Significantly Improve Clinical Outcomes for High-Grade Osteoarthritis
Authors: Terry K Morgan, Emilie Jensen, Jeong Lim, Russell Riggs
Journal: Sports Med Open (2015)
Keywords: fluoroscopy, hyaluronic acid, intra-articular injection, knee osteoarthritis

Background:
Intra-articular hyaluronic acid (HA) injection is an intermediate option between analgesics and knee joint replacement in patients with osteoarthritis (OA). Our objective was to test whether image-guided HA injections may improve knee OA outcomes after 6 months of treatment independent of potential covariates.
Methods:
This is a retrospective case series with multivariate outcome-based analysis of 207 consecutive adult patients with mild to severe knee OA treated at a single out-patient clinic employing fluoroscopy-guided HA injections. We employed a customized pain (scored 0-10) and function (scored 0-120) questionnaire based on the Likert scale to compare baseline scores with 6-month outcomes. Linear and logistic (based on >9-point score improvement) regression analysis was used to adjust for potential covariates, including grade of disease, patient age, gender, body mass index, smoking history, medical history (e.g., diabetes or heart disease), use of daily pain medications, fish oil supplementation, knee bracing, and physical therapy.
Results:
Significant covariates included OA grade, knee bracing, and analgesic use. Most of the study subjects were women (124/207, 60 %) and obese (113/207, 55 %). Clinically significant improvements in index scores (>9 points) at 6 months were observed in more than 50 % of cases post-image-guided HA injection. Regression analysis revealed a complimentary affect with knee bracing, especially in severe grade 4 disease (odds ratio 5.5 [1.14-27.0], P < 0.05). Daily analgesic use reflected a poor clinical response to treatment.
Conclusions:
Our data suggest image-guided HA injections coupled with knee bracing may benefit patients with moderate to severe knee osteoarthritis.
Key points:
Image-guided hyaluronic acid injections significantly improve clinical outcomes at 6 months for mild, moderate, and severe knee osteoarthritis.Knee bracing is a significant covariate for clinical improvement in severe grade 4 disease.Daily analgesic use is associated with high-grade disease and less clinical improvement.
Stable transmission of complex chromosomal rearrangements involving chromosome 1q derived from constitutional chromoanagenesis
Authors: Mary A Gudipati, Elizabeth Waters, Carol Greene, Nidhi Goel, Nicole L Hoppman, Beth A Pitel, Matthew R Webley, Ying Zou
Journal: Mol Cytogenet (2019)
Keywords: chromoanagenesis, chromoanasynthesis, chromoplexy, chromothripsis, constitutional 1q abnormalities
MeSH terms: Case Reports

Background:
Chromoanagenesis events encompassing chromoanasynthesis, chromoplexy, and chromothripsis are described in cancers and can result in highly complex chromosomal rearrangements derived from 'all-at-once' catastrophic cellular events. The complexity of these rearrangements and the original descriptions in cancer cells initially led to the assumption that it was an acquired anomaly. While rare, these phenomena involving chromosome 1 have been reported a few individuals in a constitutional setting.
Case presentation:
Here, we describe a newborn baby who was initially referred for cytogenetic testing for multiple congenital anomalies including cystic encephalomalacia, patent ductus arteriosus, inguinal hernia, and bilateral undescended testicles. Chromosome analysis was performed and revealed a derivative chromosome 1 with an 1q24-q31 segment inserted into 1q42.13 resulting in gain of 1q24-q31. Whole genome SNP microarray analysis showed a complex pattern of copy number variants with four gains and one loss involving 1q24-q31. Mate pair next-generation sequencing analysis revealed 18 chromosome breakpoints, six gains along an 1q24-q31 segment, one deletion of 1q31.3 segment and one deletion of 1q42.13 segment, which is strongly evocative of a chromoanasynthesis event for developing this complex rearrangement. Parental chromosome analyses were performed and showed the same derivative chromosome 1 in the mother.
Conclusions:
To our knowledge, our case is the first case with familial constitutional chromoanagenesis involving chromosome 1q24-q42. This report emphasizes the value of performing microarray and mate pair next-generation sequencing analysis for individuals with germline abnormal or complex chromosome rearrangements.
Therapeutic challenge: Unusual coexistence of idiopathic central diabetes insipidus and diabetes mellitus in a male with vitiligo
Authors: Marcio José Concepción-Zavaleta, Diego Martin Moreno Marreros, Eilhart Jorge García Villasante, Esteban Alberto Plasencia-Dueñas, Sofia Ildefonso Najarro, José Carrion Rojas, Carmen Luisa Achahui Acurio
Journal: Caspian J Intern Med (2021)
Keywords: central diabetes insipidus, diabetes mellitus, vitiligo, water deprivation test
MeSH terms: Case Reports

Background:
Idiopathic central diabetes insipidus (DI) is a rare endocrine disorder that results from total or partial deficiency of vasopressin secretion. It is idiopathic when the cause is unknown, but in many cases, is associated with autoimmune disorders.
Case presentation:
We present the case of a 44-year-old male with vitiligo and a family history of diabetes mellitus and thyroid disease. The patient presented with polydipsia and polyuria greater than 8 L/day. After water deprivation test, the patient was diagnosed with partial central diabetes insipidus. Contrast-enhanced pituitary magnetic resonance imaging showed decreased brightness of the neurohypophysis and normal thickness of the pituitary stalk. Because desmopressin was not initially available, the patient was managed with chlorpropamide, carbamazepine, and hydrochlorothiazide, and afterwards substituted. During his outpatient checkups, he presented many episodes of polyuria, the last after 13 years, with polyuria of up to 15 L associated with weight loss, and abnormal blood glucose levels; anti-GAD 65 and IA-2 antibodies were negative. He was subsequently diagnosed with diabetes mellitus and received metformin and insulin; this latter was suspended in subsequent check-ups due to hypoglycemic episodes.
Conclusion:
We highlight the importance of treatment and adequate control of these pathologies, since they share similar clinical manifestations, can easily have electrolyte imbalance and represent a challenge for endocrinologists and internists.
Acquired Factor X Deficiency in Patients With Primary Light Chain Amyloidosis
Authors: Siroj Dejhansathit, Attaya Suvannasankha
Journal: J Investig Med High Impact Case Rep (2019)
Keywords: al amyloidosis, blood coagulation disorders, factor x deficiency
MeSH terms: Blood Coagulation Factors / administration & dosage, Factor X / administration & dosage, Factor X Deficiency / complications, Hemorrhage / etiology, Immunoglobulin Light-chain Amyloidosis / complications, Case Reports, Research Support, U.S. Gov't, Non-P.H.S., Adult, Aged, Amyloidogenic Proteins / metabolism, Antineoplastic Agents / therapeutic use, Factor X Deficiency / blood, Factor X Deficiency / drug therapy, Female, Hemorrhage / drug therapy, Humans, Immunoglobulin Light-chain Amyloidosis / drug therapy, Immunosuppressive Agents / therapeutic use, Male, Partial Thromboplastin Time, Amyloidogenic Proteins, Antineoplastic Agents, Blood Coagulation Factors, Immunosuppressive Agents, Factor X

Acquired factor X (FX) deficiency is a rare but serious complication of primary amyloidosis, presumably caused by the binding of amyloid proteins to the clotting factors. The prolonged prothrombin time, partial thromboplastin time, and low FX level, which are correctable by mixing study, are the disease hallmarks. An immediate goal of care is to stop bleeding. Clotting factor replacement requires close monitoring of coagulogram and FX levels due to varying FX clearance among patients. High-purity FX is currently approved for hereditary FX deficiency and has been successfully used in some acquired FX deficiency cases. Ongoing bleeding risk complicates the treatment decision. Novel therapies yielding rapid and deep response reduce amyloid protein production and improve long-term outcome.
Zenker's diverticulum perforation due to transoesophageal echocardiography: Case report of the management of an extremely rare life-threatening iatrogenic complication
Authors: F-X Terryn, P Stangherlin, B Mansvelt
Journal: Int J Surg Case Rep (2020)
Keywords: case report, perforation, transoesophageal echocardiography, zenker’s diverticulum
MeSH terms: Case Reports

Introduction:
Transoesophageal echocardiography is generally considered to be a safe monitoring and diagnostic tool. Even though the severe morbidity rate is relatively low and mortality rate exceptional, sometimes life-threatening events may occur during this procedure.
Presentation of case:
We described the case of a 79-year-old woman with an extremely rare case of Zenker's diverticulum perforation following a transoesophageal echocardiography and its successful management with a 6 months follow-up.
Discussion:
Several specific endoscopic techniques have been described in the literature in case of Zenker's diverticulum and we believe the use of check lists should be implemented.
Conclusion:
We hope that the documentation of this rare iatrogenic complication will remind the operators of this procedure to be aware of a documented Zenker's diverticulum and when necessary, to take the published precautions to prevent a highly severe complication.
Severe secondary hyperparathyroidism in a chronic kidney disease patient treated with Radiofrequency ablation: One case report
Authors: Gulimire Muhetaer, Guangyi Liu, Ling Zhang, Hong Jiang
Journal: Front Med (Lausanne) (2022)
Keywords: chronic kidney disease, hyperplastic parathyroid gland, parathyroid hormone, radiofrequency ablation, secondary hyperparathyroidism
MeSH terms: Case Reports

End-stage renal disease (ESRD) is a global health problem with a high incidence (1) and a steadily increasing prevalence (2). Secondary hyperparathyroidism (SHPT) is a common and serious complication of chronic renal failure (CRF) in dialysis patients (3). It is mainly manifested as parathyroid hyperplasia caused by abnormal calcium and phosphorus metabolism and active vitamin D resistance, resulting in excessive secretion of parathyroid hormone (PTH), which leads to complications such as bone deformity, osteoarthralgia, pruritus, ectopic calcification, and cardiovascular calcification in CKD patients, significantly reducing the quality of life in CKD patients (4, 5). In patients with chronic kidney disease, secondary parathyroid gland hyperplasia needs to be treated as early as possible (6). Currently, there are a variety of treatment options, including vitamin D receptor agonists, xenacax hydrochloride, parathyroidectomy and ablation techniques, etc. (7, 8). Medical treatment is the main choice among these treatments, but it is invalid in patients with severe hyperparathyroidism. So, parathyroidectomy is suggested to do in those patients (9). However, many dialysis patients who have severe cardiopulmonary dysfunction cannot tolerate the trauma caused by surgery as the concept of minimally invasive surgery has been gradually introduced into all fields of surgery and medical treatment. Traditional surgery is no longer the only option. Radiofrequency ablation has been widely applied due to its advantages of less trauma, simple operation, and good repeatability. It has been reported to achieve good effects in treating secondary hyperparathyroidism patients (8). This case reports that one severe secondary hyperparathyroidism patient gets good therapeutic results from parathyroid radiofrequency ablation.
Paradoxical Embolism due to Persistent Foramen Ovale; a Case Report
Authors: Dormar David Barrios, Jonathan Roncancio, Albert Alejandro Avila, Jaime Andrés Alvarado, Ana Cristina Montenegro
Journal: Emerg (Tehran) (2017)
Keywords: anticoagulants, embolism, paradoxical, blood coagulation, emergency department, venous thromboembolism
MeSH terms: Case Reports

The mean percentage of cryptogenic strokes among ischemic strokes is 31%, of which one-third may be associated with patent foramen ovale. The foramen ovale is required for blood flow through the fetal atrial septum. It is formed as of the fourth week of gestation, and this leads to right-left interatrial shunt that allows the passage of oxygenated blood to systemic circulation. In 75% of cases, its closure is complete by 2 years of age, but it may persist in 25% of patients. We present the case of a patient with paradoxical embolism in the lower extremities and ischemic stroke in the clinical context of a patent foramen ovale.
Sinus lifting before Le Fort I maxillary osteotomy: a suitable method for oral rehabilitation of edentulous patients with skeletal class-III conditions: review of the literature and report of a case
Authors: Rita A Depprich, Jörg G K Handschel, Christian Naujoks, Tobias Hahn, Ulrich Meyer, Norbert R Kübler
Journal: Head Face Med (2007)
MeSH terms: Jaw, Edentulous, Partially / surgery, Malocclusion, Angle Class III / surgery, Maxillary Sinus / surgery, Osteotomy, Le Fort, Case Reports, Review, Alveolar Bone Loss / surgery, Alveolar Ridge Augmentation, Bone Screws, Bone Transplantation, Dental Implantation, Endosseous, Humans, Jaw, Edentulous, Partially / diagnostic imaging, Male, Malocclusion, Angle Class III / diagnostic imaging, Middle Aged, Tomography, X-Ray Computed, Tooth Extraction

Background:
Functional rehabilitation of patients afflicted with severe mandibular and maxillary alveolar atrophy might be challenging especially in malformed patients.
Methods:
Treatment planning using sinus lifting and implant placement before Le Fort I maxillary osteotomy in a patient with severe mandibular and posterior maxillary alveolar atrophy and skeletal class-III conditions due to cleft palate are described.
Results:
A full functional and esthetic rehabilitation of the patient was achieved by a stepwise surgical approach performed through sinus lifting as the primary approach followed by implant placement and subsequent Le Fort I maxillary osteotomy to correct the maxillo-mandibular relation.
Conclusion:
Stabilisation of the maxillary complex by a sinus lifting procedure in combination with computer aided implant placement as preorthodontic planning procedure before Le Fort I maxillary osteotomy seems to be suitable in order to allow ideal oral rehabilitation especially in malformed patients.
Classic dissection of thoracic aorta complicated by ascending aortic intramural hematoma: promt diagnosis and successful endovascular repair
Authors: Gediminas Rackauskas, Mindaugas Mataciunas, Nerijus Misonis, Diana Zakarkaite, Marijus Gutauskas, Valdas Bilkis, Algirdas Edvardas Tamosiunas, Pranas Serpytis, Aleksandras Laucevicius
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

We reported a case of 68-year-old man, with a previous history of hypertension. Patient was admitted to our institution for evaluation of a severe, constant, tearing anterior chest pain radiated to the neck with suspicion of acute aortic dissection. A multidetector computed tomography scan of thorax and abdomen demonstrated a dissection starting from the middle part of aortic arch and extending downward to the descending aorta till the middle part of the thoracic aorta. The dissection was classified as Stanford A, De Bakey I. Surgical treatment of patient was started with bypass graft from the right common carotid artery to the left common carotid with subsequent revascularization of left subclavian artery. Lower parts of above-mentioned arteries were ligated. At the second stage an emergent prosthetic stent-graft was placed distally from the truncus brachiocephalicus up to the proximal part of the descending aorta. We reported a case report to present diagnostic and possible interventional treatment for patient with acute aortic type A dissection.
Laparoscopic Repair of Right Paraduodenal Hernia in Adult Patients: Case Report and Literature Review
Authors: Tomoko Takagishi, Yuta Niimi, Goshi Matsuki, Shinta Nagano, Junsuke Hinami, Masaaki Kajiwara, Kiyoshi Kaneko, Yoshihiro Kubota, Osamu Nakai
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

A 56-year-old Japanese female presented with vomiting, nausea, and abdominal pain after excessive drinking and eating. Abdominal computed tomography showed an encapsulated circumscribed cluster of jejunal loops in the right upper quadrant. She was diagnosed with a strangulated intestinal obstruction caused by right paraduodenal hernia (PDH) and underwent an emergency laparoscopic repair. A view through the endoscope showed the right PDH, which was encapsulated under the mesocolon. Most of the small bowel was entrapped and adhered inside the sac, requiring careful adhesiolysis. The hernia orifice was expanded to a sufficient degree, and the strangulation was relieved, avoiding the need of resecting the small intestine. Recovery was uneventful, and the patient remains free of symptoms 3 years after surgery. Findings in a total of 29 patients (including this report) who underwent laparoscopic repair of right or left PDHs in Japan are discussed.
Xeroderma pigmentosum: case report
Authors: Maria Eduarda Coelho Cordeiro, Luisa Corte Real, Andrea Gisele Pereira Simoni
Journal: Rev Paul Pediatr (2023)
MeSH terms: Carcinoma, Skin Diseases, Skin Neoplasms / diagnosis, Skin Neoplasms / therapy, Tramadol, Xeroderma Pigmentosum / diagnosis, Xeroderma Pigmentosum / genetics, Xeroderma Pigmentosum / therapy, Case Reports, Child, DNA Repair, Humans, Male, HhAntag691, Tramadol

Objective:
The aim of this study was to describe the disease and treatment and to alert health professionals for the identification of signs and symptoms and the need for an early diagnosis in patients with xeroderma pigmentosum (XP).
Case description:
An 8-year-old male patient was referred to the Joana de Gusmão Hospital (HIJG) in 2021 for evaluation and specialized care. Previously, the child was followed in his place of origin by oncologic and palliative care, where he was submitted to surgeries and chemotherapy. He was admitted to the HIJG using vismodegib, acitrein, tramadol, and solar protective measures. On physical examination, there were tumors and disseminated macular verrucous and ulcerated lesions. The imaging examination showed solid and expansive lesions on the face, and atelectasis and fibroscarring changes in the lung. The histopathological report proved the existence of melanocanthoma, carcinoma, and pyogenic granuloma. After the evaluation of the case, no surgery, chemotherapy, or radiotherapy was performed. It was decided to maintain the palliative treatment and to continue the use of tramadol for pain, and vismodegib and acitretin were used to control carcinomas and prophylactic measures.
Comments:
The XP is a rare disease of autosomal recessive inheritance whose mechanism comes from failure in the DNA repair by exposure to ultraviolet rays, resulting in lesions on the skin and mucous membranes. They start as sunburns and can progress to melanosis, areas with altered pigmentation, premature aging, poikiloderma, and areas of high risk for neoplasms.
Orchestrating the fecal microbiota transplantation: Current technological advancements and potential biomedical application
Authors: Manisha Nigam, Abhaya Shikhar Panwar, Rahul Kunwar Singh
Journal: Front Med Technol (2022)
Keywords: dysbiosis, extragastrointestinal, gastrointestinal, gut microbiota, microbiome, safety
MeSH terms: Review

Fecal microbiota transplantation (FMT) has been proved to be an effective treatment for gastrointestinal disorders caused due to microbial disbalance. Nowadays, this approach is being used to treat extragastrointestinal conditions like metabolic and neurological disorders, which are considered to have their provenance in microbial dysbiosis in the intestine. Even though case studies and clinical trials have demonstrated the potential of FMT in treating a variety of ailments, safety and ethical concerns must be answered before the technique is widely used to the community's overall benefit. From this perspective, it is not unexpected that techniques for altering gut microbiota may represent a form of medication whose potential has not yet been thoroughly addressed. This review intends to gather data on recent developments in FMT and its safety, constraints, and ethical considerations.
A Case of Covid-19 Respiratory Illness with Subsequent Seizure and Hemiparesis
Authors: Ava Hamidi, Behnam Sabayan, Frazaneh Sorond, Alexander J Nemeth, Afshin Borhani-Haghighi
Journal: Galen Med J (2020)
Keywords: brain, cerebrovascular accident, covid-19, severe acute respiratory syndrome coronavirus 2 (s, stroke
MeSH terms: Case Reports

Background:
Neurological manifestations and complications are common in viral infections, and they are significant sources for clinical deterioration and poor clinical outcomes. Case report: The current report presents a 38year-old man with Covid-19 respiratory illness who subsequently developed neurological complications and clinical worsening leading to death. This patient sought medical attention after five days of progressive cough, fever, and dyspnea. On arrival in the emergency room, he was found to have hypoxic respiratory failure resulting in intubation and intensive care unit (ICU) admission. Chest CT scan was characteristic for Covid-19 infection, and PCR test on tracheal samples confirmed the diagnosis. On day nine of admission, he developed generalized tonic colonic seizure associated with deterioration of mental status and hemiparesis. Repeated brain CT scans showed subcortical hypoattenuation with associated sulcal effacement in the left occipital and posterior parietal lobes concerning for ischemic changes. The patient passed away on day 17 despite supportive measures.
Conclusion:
This observation and recent evidence on Covid-19 CNS involvement highlight the need for further studies on early recognition of neurological complications in Covid-19 patients.