OpenMed/multicare-articles huggingface dataset:
Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations
Authors: Huy-Hoang Nguyen, Ngoc Khanh Nguyen, Chi Dung Vu, Thi Thu Huong Nguyen, Ngoc-Lan Nguyen
Journal: Front Pediatr (2020)
Keywords: ivs7+1g>a, vietnamese females, c365a>t, heterozygous females, ornithine transcarbamylase deficiency (otcd)
MeSH terms: Case Reports

Background: Ornithine transcarbamylase deficiency (OTCD) is an X- linked recessive disorder and the most common error of the urea cycle, caused by the mutations in the OTC gene. Due to X-inactivation, 15-20% of female carriers present symptoms of OTCD at late onset. Early diagnosis of OTCD by molecular analysis in females is highly desirable. The aim of the study was to identify the mutations in two unrelated Vietnamese girls suspected with OTCD and the carriers in their families for definitive diagnosis and proper counseling. Case Presentation: Two patients presented with an acute encephalopathy at the first admission. Biochemical tests revealed hyperammonemia, hyperlactatemia, elevated glutamine level, elevated transaminase, elevated urinary orotic and uracil acid levels, and disorder of prothrombin time. Brain magnetic resonance imaging indicated cerebral edema. Based on the clinical and laboratory results, the two patients were diagnosed with urea cycle disorders. Therefore, the two patients were managed by stopping feeding, with infused glucose, l-carnitine, l-arginine, and sodium benzoate, and with hemofiltration. The two patients were alert and recovered with normal blood ammonia levels after 72 h of treatment. The family history of patient 1 showed that her brother died at 4 days of age due to a coma and dyspnea, while her parents were asymptomatic. Variable phenotypes were observed in three generations of the patient 2's family, including asymptomatic (mother), affected female adults dying at the first symptom (grandmother and aunt), and affected males dying in the first week of life (uncle, cousin, and siblings). Whole-exome sequencing showed two mutations in the OTC gene, including one novel missense mutation, c.365A>T, in the patient 1 and one previously reported splicing mutation, c.717+1G>A, in the patient 2. The two mutations are evaluated as likely pathogenic and pathogenic, respectively, according to the recommendations of the American College of Medical Genetics and Genomics (ACMG). Genetic analyses in the families indicated the mothers were heterozygous. Conclusion: Clinical, biochemical, and molecular findings accurately diagnosed the two patients with late-onset OTCD. Our results explained the genetic causes and proposed the risk in the patients' families, which could be useful for genetic counseling and monitoring in prenatal diagnosis.
Efficacy of Neoadjuvant Chemotherapy with Capecitabine plus Oxaliplatin in the Treatment of Locally Advanced Sigmoid Colon Cancer Invading the Urinary Bladder: A Report of Three Cases
Authors: Tsutomu Takenami, Shingo Tsujinaka, Jun Takahashi, Sawako Tamaki, Ryo Maemoto, Rintaro Fukuda, Hideki Ishikawa, Nao Kakizawa, Fumi Hasegawa, Rina Kikugawa, Yasuyuki Miyakura, Koichi Suzuki, Akira Tanaka, Toshiki Rikiyama
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

Introduction:
We herein present three cases of locally advanced colon cancer (LACC) invading the urinary bladder, in whom combined neoadjuvant chemotherapy with surgical intervention was effective in disease control and preserving urinary function.
Case presentation:
Before neoadjuvant chemotherapy, all three cases underwent loop transverse colostomy for symptomatic colonic obstruction. Case 1: after 6 courses of capecitabine plus oxaliplatin (CAPOX), we performed sigmoid colectomy and partial resection of the bladder. The histological examination revealed pathological complete response (pCR). The final diagnosis was ypStage 0 (ypT0ypN0M0). Case 2: after 13 courses of CAPOX plus bevacizumab, we performed Hartmann's operation with partial resection of the bladder. The histological examination revealed pCR. The final diagnosis was ypStage 0 (ypT0ypN0M0). Case 3: after 6 courses of chemotherapy with CAPOX plus bevacizumab, we performed sigmoid colectomy and partial resection of the bladder. The pathological response was grade 1a according to the Japanese Classification of Colorectal Carcinoma. The final diagnosis was ypStage IIC (ypT4bypN0M0). All three cases underwent capecitabine-based adjuvant chemotherapy after radical surgery and patients are alive without recurrence.
Conclusion:
Neoadjuvant chemotherapy with CAPOX with or without bevacizumab followed by radical surgery could be an effective treatment option for LACC invading the urinary bladder.
Isolated Intracranial Rosai-Dorfman Disease
Authors: Md Taufiq, Abul Khair, Ferdousy Begum, Shabnam Akhter, Md Shamim Farooq, Mohammed Kamal
Journal: Case Rep Neurol Med (2016)

Background. Rosai-Dorfman disease (RDD) is a benign histiocytic proliferative disorder of unknown etiology. This rare condition commonly causes massive cervical lymphadenopathy. Intracranial RDD without any nodal involvement is extremely rare. Case Report. A young Bangladeshi male complained of bilateral complete blindness with left sided deafness for about three years. There was no lymphadenopathy. MRI and CT scan of brain suggested an inflammatory/neoplastic (?meningioma) lesion located at left parasellar region which extended frontally to encircle both optic nerves and also to left prepontine area. Histopathologically the lesion was diagnosed as RDD. The patient was treated with steroid and significant clinical improvement observed. Conclusion. The prognosis of intracranial RDD is not poor. It can be treated with surgery with or without corticosteroids, chemotherapy, and so forth. But as the condition is extremely rare and often misdiagnosed, the clinician, radiologist, and histopathologist should have a suspicion in their mind about the possibility of RDD.
Laminated Veneers with Stratified Feldspathic Ceramics
Authors: Henrique Tuzzolo Neto, Wagner Ferreira do Nascimento, Larissa Erly, Rodrigo Alves Ribeiro, Jorge de Sá Barbosa, Jessica Mina Zambrana, Lariça Barbosa Raimundo, Cristiane da Silva Mendes, Ivan Pereira da Silva Jr, Alfredo Mikail Melo Mesquita, Daniela Miranda Richarte de Andrade Salgado, Claudio Costa
Journal: Case Rep Dent (2018)
MeSH terms: Case Reports

Currently, there has been a growing demand for restorations of anterior teeth in the routine of doctors in dental offices. With advances in adhesive technology and good properties of the available ceramics, the use of ceramic veneers has been offered as a treatment option for cases where teeth have minor color changes and shape and position changes. Through careful treatment planning, it is possible to conservatively use ceramic veneers in the treatments, applying techniques with minimal wear of the teeth and obtaining excellent aesthetic results with mechanical stability and biocompatibility with the periodontal tissues and clinical longevity. This clinical case report was used to design the digital smile, which guided the production of the diagnostic waxing of the superior model. Silicone guides were then made to create the mock-up, orienting enamel/dentin wear and assisting the preparation of the crowns with bis-acryl resin. When the wear was finished, the gingival separation was performed using the double-thread technique. In the molding process, the second wire was withdrawn and the molding material flowed into the gingival groove, copying the terminal region. After analysis of the quality of the impression, the temporary crowns were made with bis-acryl resin, using the guide. The color of the cementing agent was chosen using a glycerin-based compound which simulates the final color of the cement. After two hours of drying, two different layers of silane were applied for 60 seconds. After the preparation of the piece, gingival isolation and separation were done. The dental substrate was degreased with detergent solution and conditioned with 37% phosphoric acid for 15 seconds and then washed for 45 seconds for subsequent drying, leaving the substrate moistened. The adhesive system was applied for 30 seconds, waiting for the adhesive to penetrate into the conditioned dentinal tubules. A light air jet was applied, and then each tooth was photopolymerized for 30 seconds. The resin cement was placed inside the pieces and placed in position and photopolymerized. The excess cement was removed; after a layer of glycerin in the cervical region, aiming to block the entry of oxygen and polishing was performed. The purpose of this case report was to describe a sequence of clinical steps, from planning to cementation, in a case of aesthetic correction using feldspathic ceramic veneers.
Acute abdomen: a rare presentation of lung cancer metastasis
Authors: E Guérin, O Gilbert, D Dequanter
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

Surgical emergencies caused by bowel metastases from carcinoma of the lung are very rare. We describe two cases of symptomatic gastrointestinal metastatic small cell carcinoma: the first one concerns a 69-year-old man with an acute abdomen and the second is a 72-year-old man complaining of a gastric ulcer symptoms. We also discuss the current management and the prognosis of these patients.
Adenomatoid Tumor of the Adrenal Gland: Report of Two Cases and Review of the Literature
Authors: Jiexia Guan, Chang Zhao, Hengming Li, Wenjing Zhang, Weizhen Lin, Luying Tang, Jianning Chen
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: adenomatoid tumor, adrenal gland, case report, clinicopathological features, differential diagnosis
MeSH terms: Adenomatoid Tumor / diagnosis, Adrenal Gland Neoplasms / diagnosis, Case Reports, Research Support, Non-U.S. Gov't, Review, Adenomatoid Tumor / pathology, Adrenal Gland Neoplasms / pathology, Adult, Humans, Male, Tomography, X-Ray Computed

Adenomatoid tumor (AT) is an uncommon benign neoplasm of mesothelial origin, usually occurring in the female and male genital tracts. Extragenital localization such as the adrenal gland is extremely rare. Until now, only 39 cases of adrenal AT have been reported in the English literature. Here we report two novel cases of adrenal AT that occurred in male patients aged 30 and 31 years. The tumors were discovered incidentally by computed tomography (CT). Macroscopically, the tumors were unilateral and solid, and the greatest dimension of the tumors was 3.5 and 8.0 cm, respectively. Histologically, the tumors consisted of angiomatoid, cystic, and solid patterns and infiltrated the adrenal cortical or medullary tissue. The tumor cells had low nuclear/cytoplasmic ratio, with no pathological mitosis or nuclear pleomorphism. Thread-like bridging strands and signet-ring-like cells could be seen. Immunohistochemically, the tumor cells were positive for epithelial markers (AE1/AE3, CK7) and mesothelial markers (D2-40, calretinin, and WT-1). The Ki-67 index was approximately 1 and 2%, respectively. The differential diagnosis of adrenal AT includes a variety of benign and malignant tumors. The patients had neither local recurrence nor distant metastasis at 21 and 8 months after removal of the tumor. In the literature review, we comprehensively summarized the clinical, morphological, immunohistochemical, and prognostic features of adrenal AT. Adrenal ATs are morphologically and immunophenotypically identical to those that occur in the genital tracts. Combining the histology with immunohistochemical profiles is very supportive in reaching the diagnosis of this benign tumor, helping to avoid misdiagnosis and overtreatment.
Utility of Molecular Identification and Quantitation of Bartonella Species with Species-Specific Real-Time PCR for Monitoring Treatment Response: A Case Series
Authors: Maria Mazzitelli, Angelo G Lamberti, Angela Quirino, Nadia Marascio, Giorgio S Barreca, Chiara Costa, Vincenzo Pisani, Alessio Strazzulla, Giuseppe Greco, Maria C Liberto, Alfredo Focà, Carlo Torti
Journal: Open Microbiol J (2018)
Keywords: bartonella species, intracellular bacteria, molecular identification, quantitation, real time pcr, trench fever

Background:
Bartonella species are intracellular bacteria capable of producing several diseases in humans. The three most common and wellknown diseases are cat scratch disease (CSD), caused by B. henselae, trench fever, caused by B. quintana and Carrion's Disease, caused by B. bacilliformis. Signs and symptoms are very different and aspecific: Fatigue, fever, headache, lymphadenopathy, malaise, loss of weight. No data exist to support guidelines' recommendations to decide which drugs should be optimally used and how long they should be administered. Therefore, a marker of treatment response is needed to guide treatment strategies.
Methods:
We report herein three cases in which a species specific Reverse-Transcriptase Polymerase-Chain-Reaction (RT PCR) developed in-house was performed and compared to serology in order to make diagnosis and to evaluate treatment response.
Results:
Our species-specific RT PCR seemed to play a fundamental role both in diagnosis and treatment. Moreover, a discrepancy with the serology results was found.
Conclusion:
Further studies are necessary to validate these results and elucidate what is the best treatment for this pleomorphic disease. However, in absence of clear guidelines, RT PCR may be useful to orientate kind of treatment ad its duration.
A retrospective case series of the treatment of spontaneous quadriceps tendon rupture in patients with uremia and secondary hyperparathyroidism
Authors: Shuang Wu, Huihui Wang, Yanlin Zhu, Weili Fu
Journal: Front Surg (2023)
Keywords: secondary hyperparathyroidism, spontaneous quadriceps tendon rupture, ligament reconstruction, parathyroidectomy, secondary hyperparathyroidism, uremia, uremia quadriceps tendon rupture

Background:
Spontaneous quadriceps tendon rupture (QTR) is a rare complication of uremia. Secondary hyperparathyroidism (SHPT) is considered the leading cause of QTR in uremia patients. QTR in patients with uremia and SHPT are treated with active surgical repair along with the treatment of SHPT using medication or parathyroidectomy (PTX). The impact of PTX for SHPT on tendon healing remains unclear. The purpose of this study was to introduce surgical procedures for QTR and to determine the functional recovery of the repaired quadriceps tendon (QT) after PTX.
Methods:
Between Jan 2014 and Dec 2018, eight uremia patients underwent PTX after a ruptured QT was repaired by figure-of-eight trans-osseous sutures with an overlapping tightening suture technique. Biochemical indices were measured before and one year after PTX to evaluate the control of SHPT. The changes in bone mineral density (BMD) were determined by comparing x-ray images at pre-PTX and during follow-up. The assessment of the functional recovery of the repaired QT was conducted at the last follow-up using multiple functional parameters.
Results:
Eight patients (fourteen tendons) were retrospectively evaluated at an average follow-up of 3.46 ± 1.37 years after PTX. ALP and iPTH levels one year after PTX were significantly lower than at pre-PTX (P = 0.017, P < 0.001, respectively). Although there was no statistical differences compared to pre-PTX, serum phosphorus levels decreased and returned to normal one year after PTX (P = 0.101). BMD significantly increased at the last follow-up compared to pre-PTX. The average Lysholm score was 73.5 ± 11.07 and the average Tegner activity score was 2.63 ± 1.06. The active knee ROM after repair averaged an extension of 2.85 ± 3.78° to a flexion angle of 113.21 ± 10.12°. The quadriceps muscle strength was grade IV and the mean Insall-Salvati index was 0.93 ± 0.10 in all of the knees with tendon ruptures. All patients were able to walk without external help.
Conclusions:
Figure-of-eight trans-osseous sutures with an overlapping tightening suture technique is an economical and effective treatment for spontaneous QTR in patients with uremia and SHPT. PTX may promote tendon-bone healing in patients with uremia and SHPT.
Paragonimus infection: Rare manifestation with pericardial effusion: A Case report and Literature review
Authors: Ahmad Al Bishawi, Sarah Salameh, Ahsan Ehtesham, Ihab Massad, Suresh Arachchige, Ahmed Hatim, Issam Bozom, Maliha Thapur
Journal: IDCases (2021)
Keywords: afb, acid fast bacilli, ct, computed tomography scan, ecg, electrocardiogram, mtb-pcr, mycobacterial tuberculosis polymerase chain reaction, mtbc, mycobacterial tuberculosis complex, paragonimus, pericardial effusion, pro-bnp, pro b-type natriuretic peptide, rbc, red blood cells, tuberculosis, wbc, white blood cells
MeSH terms: Case Reports

Background:
Paragonimus, is a globally distributed trematode, with human disease limited to endemic regions. It can be transmitted to humans through ingestion of intermediate hosts that are crustaceans. Most symptomatic infections consist of pulmonary disease, and in aberrant migration of immature flukes, extrapulmonary manifestations may occur. These presentations are relatively uncommon and may affect various organs with atypical Clinico-radiological pathologies that are often challenging to diagnose. Pericardial involvement has scarcely been reported before. Furthermore, the management, clinical outcomes and potential complications of this involvement remain unclear.
Case report:
Our patient is a 31-year-old Nepalese male who presented with abdominal distension and lower limb oedema. Initial work up revealed pericardial effusion, and analysis was suggestive of exudative lymphocytic effusion. Supported by positive QuantiFERON result along with his demographic data, the patient was treated presumptively as a case of tuberculous pericarditis, despite the negative initial Mycobacterial Tuberculosis work up. During follow up, the patient lacked clinical response and repeated echocardiography showed signs of tamponade with concomitant pleural effusion. subsequently video-assisted-thoracoscopy pericardial window along with pericardial and pleural biopsy were performed. Histopathological examination of the biopsied tissue revealed non-necrotizing granulomas containing a parasitic egg suggestive of Paragonimus. Fortunately, the patient received treatment with praziquantel and subsequently made good clinical recovery.
Conclusion:
Diagnosis of extrapulmonary Paragonimus infection can be challenging given its rarity and clinical picture mimicking other infectious aetiologies. Pericardial involvement is seldom reported in the literature and clinical suspicion should be raised particularly when dealing with atypical presentations and relevant demographic data.
Gastrointestinal basidiobolomycosis - A rare fungal infection: Challenging to diagnose yet treatable - Case report and literature review
Authors: Saeed Mirmoosavi, Mohammadreza Salehi, Reza Fatahi, Amanuel Godana Arero, Hasti Kamali Sarvestani, Farid Azmoudeh-Ardalan, Faeze Salahshour, Masoomeh Safaei, Sara Ghaderkhani, Foroogh Alborzi Avanaki
Journal: IDCases (2023)
Keywords: basidiobolomycosis, crohn’s disease, fungal infection, gastrointestinal basidiobolomycosis, gastrointestinal obstruction, inflammatory bowel disease
MeSH terms: Case Reports

Gastrointestinal Basidiobolomycosis is a rare manifestation of Basidiobolus ranarum infection. In this report, we present two cases of gastrointestinal Basidiobolomycosis. The first patient presented with obstructive symptoms, fever, and weight loss. The diagnosis of Basidiobolomycosis was not made until after surgery, when Liposomal amphotericin-B combined with itraconazole were administered, leading to the resolution of laboratory markers of inflammation and patient's symptoms. The second case involves a young woman who presented with hematochezia, perianal induration, and abdominal pain. The patient had previously been diagnosed with Crohn's disease and treated accordingly, but her symptoms did not improve. Due to the endemicity of tuberculosis in Iran, the patient was treated for TB but still showed no improvement. However, a perianal biopsy sample revealed the Splendore Hoeppli phenomenon and fungal elements in GMS staining, leading to the diagnosis of gastrointestinal Basidiobolomycosis. Treatment with itraconazole and co-trimoxazole led to a significant improvement in symptoms and laboratory indices after one week, including the resolution of perianal induration. The key takeaway from this report is the importance of considering rare infections in the differential diagnosis of gastrointestinal conditions such as IBD and GI obstruction.
Bilateral Stress Fractures of the Talus Associated with Adult-Acquired Flatfoot Deformities
Authors: Takumi Matsumoto, Song Ho Chang, Ryutaro Takeda, Sakae Tanaka, Takuo Juji
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Adult-acquired flatfoot deformity is a progressive flattening of the arch of the foot that results from posterior tibial tendon insufficiency with a predilection for middle-aged women. A lateralized force vector associated with hindfoot valgus in adult-acquired flatfoot produces lateral ankle pain due to impingement at the lateral hindfoot, which can even lead to stress fractures of the distal fibula. Here, we present the rare case of a 73-year-old woman who presented with stress fractures of the bilateral taluses and unilateral distal fibula accompanied by severe adult-acquired flatfoot deformities.
Case report: An EEG captured case of migralepsy/migraine aura-triggered seizures
Authors: Anam Hareem, Mahsa Pahlavanzadeh, Nicholas E Calvo, Sanaz Monjazeb, Chinekwu Anyanwu
Journal: Front Neurol (2022)
Keywords: homonymous hemianopsia, ictal headache, migralepsy, visual aura, visual hallucinations
MeSH terms: Case Reports

Introduction:
Migraine and epilepsy are common chronic neurological disorders presenting with paroxysmal attacks of transient cerebral dysfunction, followed by subsequent return to baseline between episodes. The term "migralepsy" has been proposed to define migraine-triggered epileptic seizures classified by the ICHD-III as a complication of migraine with an aura.
Case:
A 55-year-old man with a 30-year history of migraine without aura presented with a new onset left parietal pain accompanied by visual disturbances occurring up to 20 times per day. His visual distortions included kaleidoscopic vision, flashes of shadows, and a right superior quadrantanopia lasting 20 min. He described discrete 2-min episodes of scintillating scotomas in his right visual field. Ictal EEG demonstrated a left occipital onset focal aware seizure with his clinical symptoms. The patient was started on valproic Acid and has remained asymptomatic.
Discussion:
The diagnostic criteria as set out by the ICHD-III for migralepsy and other syndromes with migrainous and ictal features remain confusing for practitioners as there is much overlap in clinical manifestations of these entities. EEG should be obtained when ictal features are noted among patients presenting with headache.
Pulmonary Infections Caused by Emerging Pathogenic Species of Nocardia
Authors: Harish Manoharan, Sribal Selvarajan, K S Sridharan, Uma Sekar
Journal: Case Rep Infect Dis (2019)
MeSH terms: Case Reports

Pulmonary infections are the most common clinical manifestations of Nocardia species. There is an increase in cases of nocardial infections occurring worldwide attributable to the increase in the immunosuppressed population. The availability of molecular methods has aided the detection of more number of cases as well as unusual species. Still, it remains one of the most underdiagnosed pathogens. Recognition of drug resistance in this organism has now mandated early and precise identification with speciation for effective treatment and management. Nocardial species identity can predict antimicrobial susceptibility and guide clinical management. Here, we report two cases of pulmonary nocardiosis caused by unusual species of Nocardia, namely, N. cyriacigeorgica and N. beijingensis identified by 16S rRNA gene-based sequencing. These cases are being reported for their rarity.