OpenMed/multicare-articles huggingface dataset:
Case report: A gain-of-function of hamartin may lead to a distinct "inverse TSC1-hamartin" phenotype characterized by reduced cell growth
Authors: Andrea D Praticò, Raffaele Falsaperla, Mattia Comella, Giuseppe Belfiore, Agata Polizzi, Martino Ruggieri
Journal: Front Pediatr (2023)
Keywords: tsc1, brain cortical malformations, hamartin, microcephaly, tuberous sclerosis complex
MeSH terms: Case Reports

Mutations of TSC1 and TSC2 genes cause classical Tuberous Sclerosis Complex (TSC), a neurocutaneous disorder characterized by a tendency to develop hamartias, hamartomas, and other tumors. We herein report on a girl, now aged 5 years, who presented a previously unreported, distinct clinical phenotype consisting of primary microcephaly (head circumference = 40 cm, -5.6 standard deviations), brain anomalies including hypoplasia of the corpus callosum (with a residual draft of the genu), simplified parieto-temporal gyral pattern, colpocephaly with ectasia of the temporal ventricular horns, intellectual disability, and a general pattern of reduced growth (with weight and height < 3rd centiles). No classical features of TSC were recorded; the girl harbored a novel missense variant in TSC1 (c.611G > A). We hypothesize that her clinical phenotype could be related to a "gain-of-function" of the TSC1 protein product hamartin, causing an increase in the effects of the protein on inhibition of its intracellular targets (i.e., mTORC or RAC1 pathways), resulting in a distinct "inverse TSC1-hamartin" phenotype characterized by reduced growth of cells instead of the more classical predisposition to increased cell growth.
Nosocomial acquisition of dengue
Authors: Dirk Wagner, Katja de With, Daniela Huzly, Frank Hufert, Manfred Weidmann, Susanne Breisinger, Sabine Eppinger, Winfried Vinzent Kern, Tilman Martin Bauer
Journal: Emerg Infect Dis (2004)
MeSH terms: Dengue / transmission, Infectious Disease Transmission, Patient-to-Professional, Needlestick Injuries / virology, Case Reports, Adult, Antibodies, Viral / blood, Dengue Virus / genetics, Dengue Virus / immunology, Female, Humans, Nursing Staff, Hospital, RNA, Viral / blood, Reverse Transcriptase Polymerase Chain Reaction, Antibodies, Viral, RNA, Viral

Recent transmission of dengue viruses has increased in tropical and subtropical areas and in industrialized countries because of international travel. We describe a case of nosocomial transmission of dengue virus in Germany by a needlestick injury. Diagnosis was made by TaqMan reverse transcription-polymerase chain reaction when serologic studies were negative.
Clinical Diagnosis of Toxoplasmosis via Histopathological and Antibody Examination of Five Immunocompetent Patients at Kobe City Medical Center General Hospital, 2008 to 2015
Authors: Tatsuji Hoshino, Shinya Yoshioka, Shogo Shinohara, Akiko Matsushita, Yukihiro Imai, Masato Kinugasa, Yoshiyuki Tsuji
Journal: Case Rep Infect Dis (2021)
MeSH terms: Case Reports

Congenital toxoplasmosis, commonly known as TORCH, is a well-known syndrome, but even experienced obstetricians rarely encounter it. In Japan, there is good overall hygiene and raw or wild game meats are not eaten; therefore, the prevalence of Toxoplasma gondii infection and the antibody positivity rates have been low. This low prevalence rate also relates to the fact that Toxoplasma gondii infections are rarely observed in immunocompetent hosts. Exploration of the cases in which pathological examinations were performed at our hospital (Kobe City Medical Center General Hospital) revealed that acquired Toxoplasma infections were apparent in five immunocompetent patients over an 8-year period. The number of infections was unexpectedly high. The number of 5 cases was the highest in literature review to the extent that we could know. To prevent congenital toxoplasmosis, which manifests as intracranial calcifications, hydrocephalus, and chorioretinitis in severe cases, pregnant women and their doctors require proper knowledge about the risk factors and danger of this infection. We believe that from the viewpoint of cost performance relationship, it is appropriate to bear the test fee of about 50 USD for Toxoplasma IgG and IgM check for the test of congenital toxoplasmosis, if patients desired.
Case report: Echocardiographic diagnosis of cardiac involvement caused by congenital generalized lipodystrophy in an infant
Authors: Jie Zhou, Hanmin Liu, Jiao Chen, Xiaolan He
Journal: Front Pediatr (2023)
Keywords: cardiac involvement, congenital generalized lipodystrophy, echocardiography, infant, systolic dysfunction
MeSH terms: Case Reports

We herein first report the use of conventional echocardiography combined with two-dimensional speckle-tracking to diagnose and monitor the changing process of cardiac involvement in an infant with congenital lipodystrophy. An 8-month-old girl was admitted to our hospital after first presenting at the age of 3 months with abnormal facial features that had been noticed within 4 weeks of birth. Echocardiography performed at the age of 3 months showed only slightly accelerated blood flow in the right ventricular outflow tract. At the age of 5 months, echocardiography showed myocardial hypertrophy; this finding combined with the physical characteristics and other examination results led to the consideration of congenital lipodystrophy. Genetic testing at the age of 9 months confirmed type 2 congenital lipodystrophy caused by BSCL2 gene mutation, and dietary modification was initiated. Conventional echocardiography performed at the ages of 5, 8, and 14 months showed no significant changes and a normal ejection fraction. However, two-dimensional speckle-tracking performed between the ages of 5 and 8 months showed cardiac systolic abnormalities that tended to improve after treatment. This case highlights the value of echocardiography in detecting structural and early functional cardiac changes in infants with congenital lipodystrophy.
Utilization of electromyographic biofeedback in speech therapy to attenuate the signs of facial aging: a case report
Authors: Yasmin Salles Frazão, Silvia Bertacci Manzi, Lilian Krakauer, Giédre Berretin-Felix
Journal: Codas (2023)
MeSH terms: Biofeedback, Psychology, Speech Therapy, Case Reports, Aging, Electromyography, Facial Muscles, Female, Humans, Middle Aged

Myotherapy intervention in facial aesthetics aims to attenuate wrinkles and signs of facial aging. The relationship between accentuated muscle contraction during chewing, swallowing and speaking and the appearance of facial wrinkles has been suggested by speech-language pathology literature. This study aimed to report the effect of electromyographic biofeedback associated with training of chewing, swallowing, and smiling patterns, during speech therapy intervention aimed at reducing the signs of facial wrinkles and furrows, in a 55-year-old woman. The therapy also included isotonic and isometric exercises and clinical procedures to decrease the contraction of facial mimicry muscles, which were not associated with training using electromyographic biofeedback. Signal collection and training were performed using the Biotrainer software on the New Miotool Face by Miotec, over nine weekly sessions. Two assessments were performed (before and after the nine sessions), using the MBGR Protocol (assessment of chewing, swallowing, and smiling) and validated scales described in the literature (assessment of signs of facial aging). In the reported case, the usefulness of electromyographic biofeedback was verified for learning trained orofacial myofunctional patterns, as well as to improve chewing and swallowing functions and decrease signs of facial aging. However, further research is needed to demonstrate the positive effects of electromyographic biofeedback associated with myofunctional therapy aimed at attenuating the signs of facial aging.
Two cases of pre-extensively drug resistant tuberculosis in children in Indonesia
Authors: Heda Melinda Nataprawira, Indah Septiane, Sri Sudarwati, Diah Asri Wulandari
Journal: Respir Med Case Rep (2021)
Keywords: case report, children, pre-extensively drug resistant tuberculosis
MeSH terms: Case Reports

Few reports are available on children with pre-extensively drug-resistant tuberculosis (pre-XDR-TB), which is defined as Mycobacterium tuberculosis resistant to both isoniazid and rifampicin plus resistance to either a fluoroquinolone or a second-line injectable drug. Pre-XDR-TB treatment for children usually has been individualized based on drug susceptibility test (DST) results, but treatment remains challenging due to the lack of studies based on existing treatment guidelines in children and lack of availability of the new drugs. We report two cases of pre-XDR-TB in children who have responded well to individualized treatment regimens. Because toxic drugs are used for long duration, close monitoring of adverse drug reactions is important.
Acetabula Osteoid Osteoma Mimicking Juvenile Idiopathic Arthritis and Chronic Recurrent Multifocal Osteomyelitis
Authors: Hend Abd El Baky, Richard D Thomas, Joseph Kuechle, Rabheh Abdul-Aziz
Journal: Case Rep Rheumatol (2020)
MeSH terms: Case Reports

Osteoid osteoma (OO) is a benign bone tumor that usually presents between 10 and 35 years of age. The metaphysis and diaphysis of the femur and tibia are the typical locations. The diagnosis is usually straightforward when images reveal a radiolucent nidus surrounded by reactive sclerosis. However, the diagnosis is more difficult when it occurs at atypical locations with nonspecific and misleading appearance on images. OO may mimic juvenile idiopathic arthritis (JIA), bone infection, or malignancy. We present a 14-year-old male with a 4-month history of left hip pain. His pain was worse with playing hockey and lacrosse and in the morning and sometimes woke him up at night. His examination was significant for pain with flexion and external rotation of the left hip and for mild limitation of full external rotation. Blood work revealed normal complete blood count, erythrocyte sedimentation rate, and C-reactive protein. Left hip X-ray was unremarkable. Left hip MR arthrogram showed marked edema of the medial and posterior walls of the left acetabulum. CT-guided biopsy of the left acetabulum showed unremarkable flow cytometry and chronic inflammatory component raising concern about chronic recurrent multifocal osteomyelitis (CRMO). Bone scan revealed focal increased uptake in the left acetabulum and no additional abnormality. Repeat MRI with intravenous contrast showed a left hip effusion, focal synovial enhancement in the medial left hip, and acetabula edema. The patient failed treatment for presumed JIA and CRMO with nonsteroidal anti-inflammatory drugs (NSAIDs), steroids, methotrexate, and adalimumab. CT scan of the left hip was performed for further evaluation of the bone and showed 11 × 6 mm low attenuation focus with subtle internal nidus in the posteromedial aspect of the acetabular rim, suggestive of intra-articular OO. Radiofrequency ablation was performed with no complications, and the left hip pain improved. The atypical location resulted in delay of diagnosis for 12 months after presentation. We highlight the diagnostic pitfalls observed in atypical OO locations and the difficulties this creates with making the diagnosis. OO mimicking JIA has previously been described. We submit CRMO as another differential diagnosis which may be mimicked and demonstrate the vital role of CT scan in the diagnosis.
Benign Pigmented Dermal Basal Cell Tumor in a Namibian Cheetah ( Acinonyx jubatus)
Authors: Sonja K Heinrich, Bettina Wachter, Gudrun Wibbelt
Journal: Case Rep Vet Med (2016)
MeSH terms: Case Reports

A 3.5-year-old wild born cheetah (Acinonyx jubatus), living in a large enclosure on a private Namibian farm, developed a large exophytic nodular neoplasm in its skin at the height of the left shoulder blade. We describe the clinical appearance, the surgical removal, and histological examination of the tumor, which was diagnosed as a moderately pigmented benign basal cell tumor. A three-year follow-up showed no evidence of recurrence after the surgery. Although neoplasia is reported in nondomestic felids, only very few concern cheetahs. So far, no case of basal cell tumor was described in this species.
Impact of childhood burn injuries on breastfeeding: a case report
Authors: Zurraini Arabi, Ezura Madiana Md Monoto, Agusmanan Bojeng
Journal: Int Breastfeed J (2019)
Keywords: breastfeeding, childhood burns
MeSH terms: Breast Feeding, Burns / physiopathology, Thoracic Injuries / physiopathology, Case Reports, Feeding Methods, Female, Humans, Infant, Newborn, Young Adult

Background:
Pre-pubescent girls with chest burns are at risk of complication associated with scarring and impairment in breast development. This case illustrates how burn injuries in childhood in a first-time mother have affected her in terms of breastfeeding.
Case presentation:
In May 2015, a 20 year old first-time mother at 36 weeks gestation was seen in a district health clinic in Kuching, Sarawak in regards to her ability to breastfeed. She had a history of a flame burn at the age of 5 years old to her chest, abdomen, upper limb and part of her trunk. A skin graft was done on her whole chest and abdomen. Despite the injuries, she had pubertal and antenatal breast development. Her abdomen was able to stretch to accommodate her pregnancy. Physical examination showed a pregnancy which corresponded to date. The skin over her chest and abdomen appeared tight with areas of hyperpigmentation and hypopigmentation due to scarring from the skin graft. Breast tissues were palpable over her chest. The areola and nipple tissue were completely absent with complete scarring of the nipple-areolar complex. There was no duct opening to the areola for milk expression or leakage. Counselling regarding her breastfeeding issues was done. She delivered her baby at full term via spontaneous vaginal delivery with no complication. Oral cabergoline 1 mg was given on the first day postpartum. The baby was given infant formula via bottle feeding as the feeding method of choice.
Conclusion:
Counselling plays an important part in the management of a mother with breastfeeding difficulty. Allaying the possible guilty feelings of not being able to breastfeed will fulfil the emotional gap which may arise in a mother with these challenges.
Positive melioidosis serology in a patient with adult onset Still's disease: a case report of a diagnostic dilemma
Authors: Harsha Anuruddhika Dissanayake, Gayani Premawansa, Enoka Corea, Inoshi Atukorale
Journal: BMC Rheumatol (2018)
Keywords: adult onset still’s disease, false positive antibodies, melioidosis
MeSH terms: Case Reports

Background:
Autoimmune disorders are known to produce false positives in serological tests for infections. Aetiological association between infections and autoimmunity, increased susceptibility to infectious and autoimmune disorders with immune dysregulation and non-specific polyclonal expansion of B cells with autoimmunity may cause confusion in diagnosis and patient management. We report a patient with Adult Onset Still's Disease (AOSD) presenting with rising melioidosis antibody titres that caused diagnostic confusion.
Case presentation:
A forty-nine-year-old female presented with prolonged fever, sore-throat, large joint arthritis, lymphadenopathy, hepatomegaly and transient rash. She had elevated inflammatory markers and a rising melioidosis antibody titre. The patient responded poorly to prolonged course of appropriate antimicrobials but showed rapid and sustained improvement with glucocorticoids.
Conclusion:
Positive melioidosis serology could have been due to a co-infection or false positive antibody reaction due to non-specific B cell expansion or an indicator of true infection that triggered the immune dysregulation to develop AOSD.
Case Report: Favorable Response and Manageable Toxicity to the Combination of Camrelizumab, Oxaliplatin, and Oral S-1 in a Patient With Advanced Epstein-Barr Virus-Associated Gastric Cancer
Authors: Wanrui Lv, Ke Cheng, Xiaofen Li, Lusi Feng, Hancong Li, Jia Li, Chen Chang, Dan Cao
Journal: Front Oncol (2022)
Keywords: ebv-associated gastric cancer, camrelizumab, favorable response, immunotherapy, manageable toxicity, programmed cell death ligand-1 (pd-l1) positive
MeSH terms: Case Reports

Some pertinent studies have demonstrated that Epstein-Barr virus-associated gastric cancer (EBVaGC) patients showed a favorable clinical outcome to immunotherapy and Epstein-Barr virus (EBV)-positive status might be a potential biomarker for immunotherapy in gastric cancer (GC). However, knowledge of given exposure to EBVaGC to the first-line immunotherapy is largely inadequate. Moreover, whether camrelizumab can be as effective as other PD-1 inhibitors in the treatment of advanced EBVaGC has not been reported. We report a case of advanced EBVaGC patient with a positive expression of PD-L1, enriched PD-L1+CD68+macrophages, and high TMB who had a long-term partial response and manageable toxicity to the combined approach of camrelizumab (a novel PD-1 inhibitor) and oxaliplatin plus oral S-1 (SOX). As the first-line treatment of advanced EBVaGC patients, camrelizumab combined with SOX regimen may provide a novel combined approach with favorable response and manageable safety. Combination of multiple biomarkers could have a higher effective predictive capacity to immunotherapy. Integrated treatment (chemo-immunotherapy and radiotherapy) might be the optimal strategy for patients with oligometastasis. It deserves prospective research to further validate the efficacy.
Emerging Risk Profile of Lung Cancer Therapy: Diffuse Alveolar Hemorrhage from Osimertinib
Authors: Michael J Forte, Rahul G Sangani
Journal: Case Rep Oncol Med (2019)
MeSH terms: Case Reports

Osimertinib is an oral epithelial growth factor receptor tyrosine kinase inhibitor (EGFR-TKI) used primarily in the treatment of metastatic non-small cell lung cancer. It is usually well tolerated with less than 5% of patients developing significant pulmonary toxicity from the medication, typically within the first few months after initiation. Previously reported pulmonary adverse reactions include pneumonitis (nonspecific interstitial pneumonia or other forms of acute interstitial process), fleeting asymptomatic infiltrates on imaging, and eosinophilic pneumonia. We present an interesting case of a 65-year-old female with recurrent metastatic adenocarcinoma of the lung, treated with Osimertinib for 4 months, who developed a previously unreported toxicity of diffuse alveolar hemorrhage (DAH) requiring mechanical ventilatory support.
Spontaneous Adrenal Hemorrhage in Pregnancy: A Case Series
Authors: Ankita Gupta, Ruby Minhas, Hayley S Quant
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

Background. Abdominal pain during pregnancy has a broad differential diagnosis which includes spontaneous adrenal hemorrhage (SAH). There is scant literature available on optimal mode of delivery in stable patients. Cases. Patient 1 was a 35-year-old nullipara who presented at 36 weeks of gestation with left flank pain. Patient 2 was a 27-year-old multipara at 38 weeks who presented with left upper quadrant pain. Diagnosis of SAH was made by CT scan and both were managed with pain control, serial hemoglobin assessments, and abdominal exams resulting in uncomplicated vaginal deliveries. Conclusion. SAH, although rare, is an important consideration when evaluating abdominal and flank pain in pregnancy. Management options vary from conservative management to surgical intervention depending on the stability of the patient.
A Case of Chronic Conjunctivitis following Rituximab Therapy
Authors: Marnelli A Bautista, Walter D Y Quan, Jun Wang
Journal: Adv Hematol (2009)
MeSH terms: Case Reports

The activity of the anti-CD20 monoclonal antibody, rituximab in B-cell non-Hodgkin's lymphoma, with relatively minimal toxicity has been well established. Adverse effects such as low-grade fever, urticaria, bronchospasm, sporadic tachycardia, and hypotension have been described. However, only a single case of rituximab-related, transient conjunctivitis has been documented in literature. We report an occurrence of chronic, bilateral conjunctivitis in an 88-year-old female diagnosed with stage IV, non-Hodgkin's lymphoma (NHL), who was maintained on rituximab for 12 months. In contrast to the previously described case, our patient developed severe conjunctival inflammation approximately three to four weeks following rituximab induction. Resolution of conjunctivitis occurred within two months after cessation of rituximab treatment.
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families
Authors: Yavuz Oktay, Serdal Güngör, Lena Zeltner, Sarah Wiethoff, Ludger Schöls, Ece Sonmezler, Elmasnur Yilmaz, Benjamin Munro, Benjamin Bender, Christoph Kernstock, Sofie Kaemereit, Inga Liepelt, Ana Töpf, Uluc Yis, Steven Laurie, Ahmet Yaramis, Stephan Zuchner, Semra Hiz, Hanns Lochmüller, Rebecca Schüle, Rita Horvath
Journal: J Neuromuscul Dis (2020)
MeSH terms: Leigh Disease / genetics, Mitochondrial Proteins / genetics, Transcription Factors / genetics, Case Reports, Adolescent, Adult, Consanguinity, Female, Humans, Leigh Disease / diagnostic imaging, Leigh Disease / pathology, Leigh Disease / physiopathology, Male, Pedigree, Turkey, Mitochondrial Proteins, Transcription Factors

Background:
In 2009, we identified TACO1 as a novel mitochondrial disease gene in a single family, however no second family has been described to confirm the role of TACO1 in mitochondrial disease.
Objective:
In this report, we describe two independent consanguineous families carrying pathogenic variants in TACO1, confirming the phenotype.
Methods:
Detailed clinical investigations and whole exome sequencing with haplotype analysis have been performed in several members of the two reported families.
Results:
Clinical phenotype of the patients confirms the originally reported phenotype of a childhood-onset progressive cerebellar and pyramidal syndrome with optic atrophy and learning difficulties. Brain MRI showed periventricular white matter lesions with multiple cystic defects, suggesting leukoencephalopathy in both patients. One patient carried the previously described homozygous TACO1 variant (p.His158ProfsTer8) and haplotype analysis suggested that this variant is a rare founder mutation. The second patient from another family carried a homozygous novel frame shift variant (p.Cys85PhefsTer15).
Conclusions:
The identification of two Turkish families with similar characteristic clinical presentation and an additional homozygous nonsense mutation confirms that TACO1 is a human mitochondrial disease gene. Although most patients with this clinical presentation undergo next generation sequencing analysis, screening for selected founder mutations in the Turkish population based on the precise clinical presentation may reduce time and cost of finding the genetic diagnosis even in the era of massively parallel sequencing.