OpenMed/multicare-articles huggingface dataset:
Congenital perineal hamartomas with rectal duplication: A case report
Authors: Yixin Zhang, Mo Zhang, Wei Ma, Zhengwei Yuan, Dajia Wang, Lizhu Chen
Journal: Front Med (Lausanne) (2023)
Keywords: congenital mass, hamartoma, perineal mass, prenatal, ultrasound
MeSH terms: Case Reports

Background:
Congenital perineal hamartomas are rare, and reports of prenatal ultrasound diagnosis are limited. Perineal hamartomas are usually associated with other structural malformations, which complicate the therapeutic regime.
Case presentation:
We report a case of perineal hamartomas associated with rectal duplication in a female fetus. A review of the literature on similar cases was also presented. A fetus was first diagnosed with a perineal mass at 33 weeks of gestation using ultrasound examination in our hospital. Two-dimensional ultrasonography showed a hyperechoic mass resembling a scrotum in the perineum of the fetus. The pedicle connected the mass to the fetal anus. The masses were excised after birth, and perineal hamartomas were confirmed by pathological diagnosis. Rectal duplication, an associated malformation, was found during the surgery. The rectal duplication cyst was removed at the same time.
Conclusion:
Congenital perineal masses are rare and are usually associated with urogenital and anorectal malformations. Prenatal ultrasound should be used to assess the position and relationship between the mass and perineal organs, and to exclude other combined deformities.
Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose
Authors: Ralph S Lachman, Barbara K Burton, Lorne A Clarke, Scott Hoffinger, Shiro Ikegawa, Dong-Kyu Jin, Hiroki Kano, Ok-Hwa Kim, Christina Lampe, Nancy J Mendelsohn, Renée Shediac, Pranoot Tanpaiboon, Klane K White
Journal: Skeletal Radiol (2014)
MeSH terms: Bone and Bones / diagnostic imaging, Mucopolysaccharidosis IV / diagnostic imaging, Mucopolysaccharidosis VI / diagnostic imaging, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Adult, Child, Child, Preschool, Diagnosis, Differential, Female, Humans, Male, Radiography, Young Adult

Objective:
Mucopolysaccharidosis IVA (MPS IVA, or Morquio A syndrome) and VI (MPS VI, or Maroteaux-Lamy syndrome) are autosomal recessive lysosomal storage disorders. Skeletal abnormalities are common initial presenting symptoms and, when recognized early, may facilitate timely diagnosis and intervention, leading to improved patient outcomes. Patients with slowly progressing disease and nonclassic phenotypes can be particularly challenging to diagnose. The objective was to describe the radiographic features of patients with a delayed diagnosis of MPS IVA or VI.
Materials and methods:
This was a retrospective study. The records of 5 MPS IVA and 3 MPS VI patients with delayed diagnosis were reviewed. Radiographs were evaluated by a radiologist with special expertise in skeletal dysplasias.
Results:
An important common theme in these cases was the appearance of multiple epiphyseal dysplasia (MED) with epiphyseal changes seemingly confined to the capital (proximal) femoral epiphyses. Very few patients had the skeletal features of classical dysostosis multiplex.
Conclusions:
Radiologists should appreciate the wide phenotypic variability of MPS IVA and VI. The cases presented here illustrate the importance of considering MPS in the differential diagnosis of certain skeletal dysplasias/disorders, including MED, some forms of spondylo-epiphyseal dysplasia (SED), and bilateral Perthes-like disease. It is important to combine radiographic findings with clinical information to facilitate early testing and accurate diagnosis.
Endodontic Treatment of a Mandibular Second Premolar with Type IV Wiene's Root Canal: A Case Report
Authors: Noushad Matavan Chalil, Shravan Kini, Sunil Jose, Arun Narayanan, Shahnas Salahudeen, Faizal C Peedikayil
Journal: Case Rep Dent (2014)

This case report describes an endodontic treatment of a mandibular second premolar with type IV root canal. A 26-year-old male patient reported pain in right mandibular second premolar. Clinical examination showed a large carious lesion with pulp exposure. Radiographs showed minimal periapical changes and slight widening of periodontal ligament space. Mandibular second premolars usually have one canal. The mandibular second premolar may present large number of anatomic variations. The clinician should be aware of the configuration of the pulp system. This case presents the diagnosis and clinical management of a mandibular second premolar with two distinct canals in the apical third of root (Type IV Wiene's canal configuration), drawing particular attention to tactile examination of all the canal walls and obturating it with calamus 3D obturation system.
COVID-19 and Tuberculosis Coinfection: An Overview of Case Reports/Case Series and Meta-Analysis
Authors: Wan-Mei Song, Jing-Yu Zhao, Qian-Yun Zhang, Si-Qi Liu, Xue-Han Zhu, Qi-Qi An, Ting-Ting Xu, Shi-Jin Li, Jin-Yue Liu, Ning-Ning Tao, Yao Liu, Yi-Fan Li, Huai-Chen Li
Journal: Front Med (Lausanne) (2021)
Keywords: covid-19, clinical features, co-infection, risk factors, tuberculosis
MeSH terms: Systematic Review

Background: Coronavirus disease 2019 (COVID-19) and tuberculosis (TB) are two major infectious diseases posing significant public health threats, and their coinfection (aptly abbreviated COVID-TB) makes the situation worse. This study aimed to investigate the clinical features and prognosis of COVID-TB cases. Methods: The PubMed, Embase, Cochrane, CNKI, and Wanfang databases were searched for relevant studies published through December 18, 2020. An overview of COVID-TB case reports/case series was prepared that described their clinical characteristics and differences between survivors and deceased patients. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) for death or severe COVID-19 were calculated. The quality of outcomes was assessed using GRADEpro. Results: Thirty-six studies were included. Of 89 COVID-TB patients, 19 (23.46%) died, and 72 (80.90%) were male. The median age of non-survivors (53.95 ± 19.78 years) was greater than that of survivors (37.76 ± 15.54 years) (p < 0.001). Non-survivors were more likely to have hypertension (47.06 vs. 17.95%) or symptoms of dyspnea (72.73% vs. 30%) or bilateral lesions (73.68 vs. 47.14%), infiltrates (57.89 vs. 24.29%), tree in bud (10.53% vs. 0%), or a higher leucocyte count (12.9 [10.5-16.73] vs. 8.015 [4.8-8.97] × 109/L) than survivors (p < 0.05). In terms of treatment, 88.52% received anti-TB therapy, 50.82% received antibiotics, 22.95% received antiviral therapy, 26.23% received hydroxychloroquine, and 11.48% received corticosteroids. The pooled ORs of death or severe disease in the COVID-TB group and the non-TB group were 2.21 (95% CI: 1.80, 2.70) and 2.77 (95% CI: 1.33, 5.74) (P < 0.01), respectively. Conclusion: In summary, there appear to be some predictors of worse prognosis among COVID-TB cases. A moderate level of evidence suggests that COVID-TB patients are more likely to suffer severe disease or death than COVID-19 patients. Finally, routine screening for TB may be recommended among suspected or confirmed cases of COVID-19 in countries with high TB burden.
A case of a diverticulum-like giant jejunal gastrointestinal stromal tumour presenting with intraperitoneal peritonitis due to rupture
Authors: Ryosuke Arata, Hideki Nakahara, Takashi Urushihara, Toshiyuki Itamoto, Takashi Nishisaka
Journal: Int J Surg Case Rep (2020)
Keywords: chemotherapy, gastrointestinal stromal tumour, local resection, peritonitis, rupture of the tumour, small intestine
MeSH terms: Case Reports

Introduction:
Early diagnosis of small intestinal gastrointestinal stromal tumours (GISTs) is difficult. These tumours often present with peritonitis and intraperitoneal bleeding due to rupture. We experienced a case of a tumor that grows to 12 cm asymptomatic.
Presentation of case:
A 46-year-old man presented with sudden abdominal pain. Computed tomography revealed free air in the abdominal cavity, a 12-cm sized dilatation in the small intestine, and pooled residues. He was diagnosed with perforation of the gastrointestinal tract, and emergency surgery was performed. Inside the abdominal cavity, approximately 500 mL of bloody ascites was observed. A diverticulum-like mass measuring approximately 12-cm long was observed on the jejunum approximately 30 cm from the Treitz ligament. There was a large hematoma inside the mass, and perforation was recognised at the neck of the diverticulum. Partial resection of the jejunum and intraperitoneal drainage were performed. Immunohistochemistry revealed that the tumour was positive for KIT and CD34, and GIST was diagnosed. The patient was discharged on postoperative day 10 without significant complications. The patient did not relapse while taking imatinib as an adjuvant chemotherapy.
Discussion:
Gastrointestinal stromal tumours are the most common mesenchymal tumours of the gastrointestinal tract and may undergo increased diverticulum-like growth, as seen in this case. Local resection and proper chemotherapy increase long-term survival, suppress tumour growth, and reduce the risk of relapse.
Conclusion:
Diagnosing GIST can be difficult due to the absence of clinical symptoms. It is necessary to ensure local resection and careful long-term follow-up.
Mycoplasma Pneumonia: An Unrecognized Cause of Fever of Unknown Origin in an Adult
Authors: Fatima Ali-Ahmed, Alexandra Halalau
Journal: Case Rep Infect Dis (2017)
MeSH terms: Case Reports

A 26-year-old female was admitted for fever of unknown origin (FUO), headaches, left ankle edema, and a lower extremity rash consistent with erythema nodosum. She had no respiratory symptoms or family history of autoimmune diseases. A chest X-ray was negative for pneumonia or hilar adenopathy. Extensive autoimmune workup was negative. A chest, abdomen, and pelvis computed tomography scan was unremarkable and laboratory studies revealed no source of infection. On hospital day 5, the patient developed a mild productive cough. Her Mycoplasma pneumonia (MP) IgM was high, confirming the diagnosis of MP induced FUO. She was started on azithromycin 500 mg daily and within 24 hours her fevers and headaches resolved. Her left ankle edema and EN gradually improved over a course of a few weeks. This case report highlights the need for MP testing in the evaluation of fever of unknown origin, even in the absence of pulmonary manifestations.
Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy
Authors: Cécile Méjécase, Caroline Laurent-Coriat, Claudine Mayer, Olivier Poch, Saddek Mohand-Saïd, Camille Prévot, Aline Antonio, Fiona Boyard, Christel Condroyer, Christelle Michiels, Steven Blanchard, Mélanie Letexier, Jean-Paul Saraiva, José-Alain Sahel, Isabelle Audo, Christina Zeitz
Journal: PLoS One (2016)
MeSH terms: Codon, Nonsense, Cone-Rod Dystrophies / genetics, Heterotrimeric GTP-Binding Proteins / genetics, Case Reports, Adult, DNA Mutational Analysis, High-Throughput Nucleotide Sequencing, Homozygote, Humans, Male, Retinitis Pigmentosa / genetics, Transducin, Codon, Nonsense, GNAT1 protein, human, Heterotrimeric GTP-Binding Proteins, Transducin

GNAT1, encoding the transducin subunit Gα, is an important element of the phototransduction cascade. Mutations in this gene have been associated with autosomal dominant and autosomal recessive congenital stationary night blindness. Recently, a homozygous truncating GNAT1 mutation was identified in a patient with late-onset rod-cone dystrophy. After exclusion of mutations in genes underlying progressive inherited retinal disorders, by targeted next generation sequencing, a 32 year-old male sporadic case with severe rod-cone dystrophy and his unaffected parents were investigated by whole exome sequencing. This led to the identification of a homozygous nonsense variant, c.963C>A p.(Cys321*) in GNAT1, which was confirmed by Sanger sequencing. The mother was heterozygous for this variant whereas the variant was absent in the father. c.963C>A p.(Cys321*) is predicted to produce a shorter protein that lacks critical sites for the phototransduction cascade. Our work confirms that the phenotype and the mode of inheritance associated with GNAT1 variants can vary from autosomal dominant, autosomal recessive congenital stationary night blindness to autosomal recessive rod-cone dystrophy.
Cystic Adventitial Disease of the Common Femoral Artery: A Rare-Case Report
Authors: Qilong Wang, Zhihua Cheng, Liang Tang, Qi Wang, Ping Zhang, Hua Zhang
Journal: Front Surg (2022)
Keywords: autologous saphenous vein, case report, common femoral artery, cystic adventitial disease, space-occupying lesion, surgical excision
MeSH terms: Case Reports

Herein, we report the case of a 59-year-old man with intermittent claudication of ~100 m, who complained of resting pain in his lower right extremity. A pelvic, contrast-enhanced, computed tomography scan showed the presence of cystic density in the lower segment of the right common femoral artery. Faced with the risk of acute limb ischemia, we navigated a challenging diagnostic procedure to choose an appropriate treatment for him. Additionally, we performed a pathological investigation of the excised common femoral artery following the excision bypass. On postoperative day 5, the patient was discharged from the hospital. During the 2-year follow-up, no new cysts were discovered, and the patient had favorable prognosis.
Immunoglobulin Therapy in a Patient With Severe Chikungunya Fever and Vesiculobullous Lesions
Authors: Ana Isabel V Fernandes, Joelma R Souza, Adriano R Silva, Sara B S C Cruz, Lúcio R C Castellano
Journal: Front Immunol (2019)
Keywords: chikungunya fever, flebogamma dif, intensive care, intravenous antibodies, therapeutics
MeSH terms: Antibodies, Viral / therapeutic use, Chikungunya Fever / therapy, Chikungunya virus / immunology, Immunization, Passive / methods, Immunoglobulins, Intravenous / therapeutic use, Skin Diseases, Vesiculobullous / therapy, Skin Diseases, Vesiculobullous / virology, Case Reports, Research Support, Non-U.S. Gov't, Anti-Bacterial Agents / administration & dosage, Anti-Bacterial Agents / therapeutic use, Antibodies, Viral / administration & dosage, Chikungunya Fever / virology, Follow-Up Studies, Humans, Intensive Care Units, Male, Middle Aged, Treatment Outcome, Anti-Bacterial Agents, Antibodies, Viral, Immunoglobulins, Intravenous

Chikungunya virus (CHIKV) is an emerging arbovirus whose transmission has already been reported in several countries. Although the majority of individuals acutely infected with CHIKV appear to become asymptomatic, reports showing the occurrence of atypical and severe forms of the disease are increasing. Among them, the neurological and skin manifestations require medical attention. Treatment of CHIKV infection is almost symptomatic. In this sense, we report the case of a 56-years-old man who presented fever, headaches, paresthesia and pain in the right arm with visible red spots on the skin starting 30 days before Hospital admission. Tests determined Chikungunya infection and excluded other co-morbidities. Disease evolved with edema in hands and feet and extensive hemorrhagic bullous lesions on the skin of upper and lower limbs. Variations in hematological counts associated with liver dysfunction determined this patient's admission to the Intensive Care Unit. Then, he received intravenous antibiotic and immunoglobulin therapy (400 mg/Kg/day for the period of 5 days) with total recovery from the lesions after 10 days of follow-up. A general improvement in blood cell count and successful wound healing was observed. After discharge, no other clinical sign of the disease was reported until nowadays. This case reports for the first time the successful administration of intravenous immunoglobulin therapy to a patient with severe atypical dermatological form of Chikungunya Fever without any associated comorbidity.
Incidental giant obstructed pedunculated gastric lipoma during gastrostomy: A case report
Authors: Mohamad Emad Abdulrahman, Anas Aji, Mhd Belal Alsabek
Journal: Int J Surg Case Rep (2018)
Keywords: gastrostomy, incidental gastric lipoma, outlet gastric obstruction

Background:
Most gastric lipomas are small, asymptomatic, and detected as incidental findings on radiologic evaluation or endoscopic examination of the upper gastrointestinal tract. We report a large lipoma which was noticed by its mass effect during a percutaneous endoscopic gastrostomy; the full evaluation prevented an unexplained failed procedure.
Presentation:
A 65 year old man with a cerebrovascular accident (CVA) suffered from resistant vomiting and severe dysphagia. An endoscopic gastrostomy was indicated, but an incidental pedunculated submucosal mass in antrum terminated the procedure for further investigations, it was highly expected to cause an intermittent gastric outlet obstruction shortly after the procedure. The radiological evaluation found an 8 × 5 cm2 lipoma. A resectional surgery was performed and combined with an open gastrostomy tube placement.
Discussion:
Gastric lipoma is a very rare condition and mostly small and asymptomatic. Symptomatic ones could manifest by bleeding or obstruction. In our case, the obstruction was discovered incidentally by endoscopy. Computed tomography (CT) scan is an excellent diagnostic tool that confirmed the diagnosis. The treatment options range from open surgery to laparoscopic or endoscopic intervention.
Conclusion:
A full endoscopic evaluation for the upper gastrointestinal tract is recommended before gastrostomy. Our reported case gives an advantage of the percutaneous endoscopic gastrostomy procedure over the open gastrostomy tube placement to rule out a large asymptomatic gastric lipoma.
A new gentle reduction technique for patients with congenital diaphragmatic hernia-A case report
Authors: Takafumi Kawano, Oliver J Muensterer
Journal: Int J Surg Case Rep (2019)
Keywords: diaphragmatic hernia, hernia sack, reduction, twist

Reducing the herniated viscera such as the spleen, the liver, and the bowel in thoracoscopic repair of congenital diaphragmatic hernia can be challenging. The small instruments involved can easily create damage, particularly to the friable capsule of the solid organs involved. We herein demonstrate a new gentle method of reducing the diaphragmatic hernia using sequential twisting of the sac. The patient was a 3 day old girl with left sided Bochdalek diaphragmatic hernia. Chest X-ray showed intestinal herniation into the thoracic cavity, and we planned to perform elective Minimal-invasive surgery. Once in the chest, the fundus of the hernia sac is grasped with a blunt endosurgical grasper. The grasper is then turned, twisting the sac around the shaft of the instrument and thereby reducing the hernia content. Once maximal reduction with one hand is achieved, the twisted tissue is grasped with the contralateral instrument and the maneuver repeated until the entire hernia content is reduced. Subsequently, the sac is removed circumferentially using the monopolar electrocautery hook. The diaphragm is then closed with interupted figure-eight sutures of 2-0 silk. The operative time was 65 min, and there were no intraoperative complications. She was discharged home on postoperative day 5. Half a year later, she was asymptomatic without any signs of recurrence. In conclusion, the twisting technique allows for gentle, gradual reduction of diaphragmatic hernias with a sac without injury to the herniated viscera.
Term Delivery of a Complete Molar Pregnancy with a Coexistent Normal Pregnancy
Authors: Manisha Chhetry, Aruna Pokharel, Amar Nath Chaudhary
Journal: Case Rep Obstet Gynecol (2019)
MeSH terms: Case Reports

Twin pregnancy with a complete mole and a coexistent normal fetus reaching term is a rare occurrence. We report a case of a 21-yrs G2P1L0 un-booked patient at 39 weeks who was referred for the same condition diagnosed incidentally on ultrasound scan which showed a singleton pregnancy in breech presentation with a normal placenta and a heterogeneous cystic lesion seen anteriorly, suggesting a coexistent molar pregnancy. Cesarean section was done, and a healthy male baby was delivered with a grossly normal placenta and a second placenta with grape like vesicles. Histopathology confirmed the diagnosis of complete mole and normal placenta. Postoperative period was uneventful, and the patient was kept on beta hcg follow-up to monitor progression to gestational trophoblastic neoplasia, but it normalized by 12 weeks.
Case Report: Vitamin C combined with multiple micronutrient deficiencies is associated with pulmonary arterial hypertension in children with autistic spectrum disorder
Authors: Wirada Sakamornchai, Oraporn Dumrongwongsiri, Sirinapa Siwarom
Journal: Front Nutr (2022)
Keywords: autistic spectrum disorder, inappropriate feeding problems, micronutrient deficiencies, pulmonary arterial hypertension, vitamin c deficiency
MeSH terms: Case Reports

Children with developmental and behavioral problems including autistic spectrum disorders (ASDs) may have inappropriate feeding behaviors, which leads to an increased risk of multiple nutrient deficiencies. Vitamin C deficiency is one of the common nutrient deficiencies reported in children with inappropriate feeding. This case report illustrates two cases of ASD children with a clinical presentation of pulmonary arterial hypertension, a rare presentation of vitamin C deficiency. Vitamin C supplementation, pulmonary vasodilator, and supportive treatment were provided. Patients could recover from the illness and could be discharged from the hospital in a short time. In addition to vitamin C, the patients also had multiple micronutrient deficiencies. Nutrition counseling was given and micronutrient supplement was continued until follow-up. Regular nutrition assessment and counseling among children with ASD are needed to prevent nutrient deficiencies which may lead to life-threatening complications.
Persistent Ureteric Dilatation due to Pelvic Actinomycosis Presenting as Pelvic Inflammatory Disease
Authors: Richard Khafagy, Omar Jundi, Karol Rogawski, Siva Namasiviyam
Journal: Case Rep Nephrol (2011)
MeSH terms: Case Reports

Actinomyces is a Gram-positive, filamentous bacterium that normally colonizes mucosal areas. Pelvic actinomycosis is a chronic granulomatous disease caused by Actinomyces israelii that frequently mimics ovarian tumors during presentation. It is diagnosed after surgery in most of the cases. Intravenous penicillin is the most preferred therapeutic agent, and it requires hospitalization up to one month. Pelvic actinomycosis is a rare cause of ureteric obstruction and renal failure. The final diagnosis is usually difficult and often apparent only after histological examination of an operative specimen. The present case led us to consider the etiology and clinical findings and to review the management of reported cases involving ureteric obstruction.