OpenMed/multicare-articles huggingface dataset:
Evaluation of the pediatric antiretroviral therapy service in Gondar city public health facilities-A case study design with mixed methods
Authors: Abrham Azanaw, Melaku Birhanu Alemu, Mezgebu Yitayal, Andualem Yalew Aschalew
Journal: PLoS One (2022)
MeSH terms: Acquired Immunodeficiency Syndrome, HIV Infections / drug therapy, Research Support, Non-U.S. Gov't, Caregivers, Child, Health Facilities, Humans, Quality of Life

Background:
The pediatric antiretroviral therapy (ART) service is introduced to save lives, restore mental and physical functions, and improve the quality of life of children living with HIV/AIDS. This evaluation aimed to assess the implementation status of the pediatric ART service provision in Gondar city administration health facilities to promote evidence-based decision-making for program improvement.
Methods:
An institutional-based single case-study design with concurrent mixed methods were applied. The service was evaluated by the availability of essential resources, compliance of health providers with the standard guideline, and caregivers' satisfaction dimensions. Document review, key informant interviews, observations, and interviewer-administered exit-interview were conducted. The quantitative data were analyzed in descriptive and analytical, while the qualitative data were transcribed, translated, and thematically analyzed. A logistic regression analysis was performed to identify factors associated with caregivers' satisfaction.
Results:
The overall implementation of pediatric ART service was 75.32%. The availability, compliance, and satisfaction were 68.96%, 74.44%, and 84.64%, respectively. Trained healthcare professionals, essential ART drugs, registers, and basic laboratory diagnostic equipment were reasonably available. However, the lack of opportunistic infection medications and adequate rooms were significant gaps in service provision. Respondents noted a shortage of drugs and rooms for consultation and service provision. Short travel distance (AOR = 2.87), low viral load (AOR = 3.15), and sex of caregivers (AOR = 4.98) were significantly associated with good satisfaction.
Conclusions:
The overall implementation of pediatric ART service is well based on the pre-determined judgment criteria. The health facilities and policymakers are advised to focus on availing medications to treat opportunistic infections and expanding the health facility to have enough space for consultation and service provision. Furthermore, particular emphasis should be given to caregivers who come from long distances and patients with a high viral load to increase caregivers' satisfaction.
Osteogenesis Imperfecta: A Case Series and Literature Review
Authors: Constanza Neri Morales, Alejandra Silva Amaro, José D Cardona, Joanna L Bendeck, Karen Cifuentes Gaitan, Valentina Ferrer Valencia, María T Domínguez, María L Quevedo, Isabel Fernández, Luis G Celis Regalado
Journal: Cureus (2023)
Keywords: common mutation, osteoarticular disorders, pediatric genetics, skeletal dysplasia, type i osteogenesis imperfecta, type ii osteogenesis imperfecta, type iii osteogenesis imperfecta
MeSH terms: Case Reports

Osteogenesis imperfecta (OI) is a hereditary disease of connective tissue characterized by the loss of bone density and mass, which increases the fragility of the bones, thus presenting multiple fractures throughout the years followed by bone deformity and articular instability. This condition has various clinical presentations. We present four cases of OI, one case with type I, two cases with type II, and one case with type III. The clinical diagnosis in most of the cases was clinical; only one of them was confirmed with genomic sequence. The treatment of these cases was based on medication, orthopedic surgery, and recovery and physical therapy. The evolution was torpid in these cases but with prolonged life expectancy despite the severity and type of OI. It is important to highlight that the patients did not have a neurocognitive compromise. Early diagnosis and multidisciplinary medical management are crucial in obtaining better outcomes for this disease, improving the quality of life, and avoiding complications.
LH/hCG-Receptor Expression May Have a Negative Prognostic Value in Low-Risk Endometrial Cancer
Authors: Ivo Noci, Flavia Sorbi, Luca Mannini, Elisabetta Projetto, Serena Pillozzi, Viola Ghizzoni, Tiziano Lottini, Daniela Moncini, Gianna Baroni, Francesco Mungai, Annarosa Arcangeli, Massimiliano Fambrini
Journal: Front Oncol (2016)
Keywords: lh/hcg-receptor, biomarker, endometrial cancer, immunohistochemical analysis, molecular analysis, recurrence
MeSH terms: Case Reports

Introduction:
A 51 year-old woman was diagnosed with endometrial cancer (EC) and underwent surgical staging. Pathological evaluation showed a 2 cm × 1 cm G2 endometrioid EC with a 30% myometrial deep invasion (FIGO Stage 1A). The patient was classified as low risk of recurrence, and no adjuvant treatment was offered. Six months after surgery, the patient developed an early vescico-vaginal recurrence, and chemotherapy treatment was started. Few months later, a subsequent involvement of vaginal wall, ileum, and omentum was detected, and the patient underwent second surgery.
Background:
LH/hCG-receptor (LH/hCG-R) expression has been previously reported to be associated with an invasive phenotype in EC cells. Moreover, in a preclinical mouse model of EC behaves as a prometastatic molecular device.
Discussion:
We analyzed the expression level of LH/hCG-R in cancer specimens collected during surgeries. Molecular and immunohistochemical analyses showed a strong expression of both mRNA and protein for LH/hCG-R in all specimens.
Conclusion:
LH/hCG-R expression may be assessed together with other clinicopathological parameters in order to better predict the risk of recurrence in low-risk EC patients. Further clinical trials are warranted in order to validate LH/hCG-R as biomarker in EC.
HSV-1 Encephalitis: High Index of Clinical Suspicion, Prompt Diagnosis, and Early Therapeutic Intervention Are the Triptych of Success-Report of Two Cases and Comprehensive Review of the Literature
Authors: Dimitrios Patoulias, Georgios Gavriiloglou, Konstantinos Kontotasios, Mairi Tzakri, Petros Keryttopoulos, Christos Koutras
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

Herpes Simplex Virus (HSV) encephalitis is an acute infectious disease of the Central Nervous System (CNS), usually affecting the limbic structures, the median temporal cortex, and the orbitofrontal regions. Its annual incidence has significantly increased over the last 20 years and the mortality rate is 7%, if early diagnosed and treated, and 70%, if left untreated, while it is associated with high rates of morbidity. It should be noted that even when Cerebrospinal fluid (CSF) analysis seems normal, imaging studies are not specific and HSV Polymerase Chain Reaction (PCR) test is negative; the clinician should be more aggressive, if clinical presentation is indicative for HSV encephalitis, by administrating acyclovir early after patient's admission. The latter may be a vital intervention for the patient, modifying the patient's clinical course. Through the presentation of two cases of HSV-1 encephalitis that we managed in our department over the last 1 year and after systematic and comprehensive research of the relevant literature, we aim at showing the crucial role of medical history and physical examination, along with the high index of clinical suspicion, in order to make promptly the diagnosis and administer timely intravenous acyclovir, limiting the possibility of complications during the disease's course.
Aortitis as a Rare Cause of Aortic Aneurysm and Valve Regurgitation: Is Repair Precluded?
Authors: Carlos Porras, Gemma Sanchez-Espin, Miguel Such, Jesús Sánchez-Ramos, Alicia Bautista-Pavés, Pilar Martín-de la Fuente, Josefa Ruiz, Norberto Ortego-Centeno, Isabel Rodríguez-Bailón, José María Melero
Journal: Case Rep Cardiol (2018)
MeSH terms: Case Reports

Aortitis is an infrequent cause of aortic root dilatation and aortic valve regurgitation. Valve-sparing procedures have been proposed, but there is not clear evidence of which is the treatment of choice. We report the case of a 38-year-old pregnant lady with a diagnosis of idiopathic aortitis associated with aortic root aneurysm and severe aortic valve regurgitation.
Treatment of Bleeding Diathesis Associated with a Heparin-Like Anticoagulant in Plasma Cell Neoplasia Using Protamine
Authors: Christopher A Willner, Mohammed M Chisti
Journal: Case Rep Hematol (2018)
MeSH terms: Case Reports

The development of a heparin-like anticoagulant (HLAC) in plasma cell neoplasia has previously been described in clinical literature. Testing of this HLAC, primarily in vitro, has demonstrated that neutralization may be achieved with protamine sulfate, owing to antithrombin III cofactor activity. We report a case in which intravenous protamine sulfate was administered to a patient with IgG-kappa monotypic multiple myeloma, which resulted in resolution of bleeding and coagulopathy, confirmed via objective laboratory data. Our case is intended to demonstrate that intravenous protamine sulfate should be considered in acute bleeding with plasma cell neoplasia. We review the literature to observe past experiences about this phenomenon. We postulate that chemotherapy, targeted therapies, and immunotherapies may also disrupt production of a HLAC. With further investigation, this strategy could be applicable in other hematological malignancies with bleeding diathesis, chiefly if the pathophysiology of the HLAC is precisely defined.
Pertussis clinical case definition: Time for change in developing countries?
Authors: Sheila Gopal Krishnan, Weng Hong Fun, Malini Devi Ramadras, Rahmah Yunus, Yik Fan Lye, Sondi Sararaks
Journal: PLoS One (2019)
MeSH terms: Bordetella pertussis / isolation & purification, Whooping Cough / diagnosis, Research Support, Non-U.S. Gov't, Bordetella pertussis / genetics, DNA, Bacterial / isolation & purification, Developing Countries, Female, Humans, Infant, Malaysia, Retrospective Studies, Whooping Cough / microbiology, DNA, Bacterial

Background:
Developing countries still struggle with late detection and mortality from pertussis. A review of clinical case definitions is necessary for early disease detection. This paper aimed to study possible clinical characteristics for earlier pertussis detection in a sporadic setting.
Methods:
We conducted a retrospective review of medical and laboratory records in a general paediatric ward of a district hospital in a developing country. Inclusion criteria were all children hospitalised with nasopharyngeal swab taken for Bordetella pertussis. We compared sensitivity and specificity of World Health Organization diagnostic criteria with other clinical characteristics. Polymerase chain reaction Bordetella pertussis was the gold standard used.
Results:
Out of 207 eligible admissions, the study retrieved 128 complete records. Approximately half of the children were less than 3 months old. The World Health Organization diagnostic criteria had a low sensitivity (15%), but high specificity (92%). In comparison, combinations that included paroxysmal cough, ill contact and facial congestion had higher sensitivity. Increasing cough duration improved specificity while compromising sensitivity.
Conclusion:
Several clinical characteristics such as paroxysmal cough, facial congestion and a history of ill contact have potential for early clinical detection. Conventional emphasis on cough duration may hamper early detection.
Direct continuous electromyographic control of a powered prosthetic ankle for improved postural control after guided physical training: A case study
Authors: Aaron Fleming, Stephanie Huang, Elizabeth Buxton, Frank Hodges, He Helen Huang
Journal: Wearable Technol (2021)
Keywords: dynamic standing balance, myoelectric control, postural control, training, transtibial amputee

Despite the promise of powered lower limb prostheses, existing controllers do not assist many daily activities that require continuous control of prosthetic joints according to human states and environments. The objective of this case study was to investigate the feasibility of direct, continuous electromyographic (dEMG) control of a powered ankle prosthesis, combined with physical therapist-guided training, for improved standing postural control in an individual with transtibial amputation. Specifically, EMG signals of the residual antagonistic muscles (i.e. lateral gastrocnemius and tibialis anterior) were used to proportionally drive pneumatical artificial muscles to move a prosthetic ankle. Clinical-based activities were used in the training and evaluation protocol of the control paradigm. We quantified the EMG signals in the bilateral shank muscles as well as measures of postural control and stability. Compared to the participant's daily passive prosthesis, the dEMG-controlled ankle, combined with the training, yielded improved clinical balance scores and reduced compensation from intact joints. Cross-correlation coefficient of bilateral center of pressure excursions, a metric for quantifying standing postural control, increased to .83(±.07) when using dEMG ankle control (passive device: .39(±.29)). We observed synchronized activation of homologous muscles, rapid improvement in performance on the first day of the training for load transfer tasks, and further improvement in performance across training days (p = .006). This case study showed the feasibility of this dEMG control paradigm of a powered prosthetic ankle to assist postural control. This study lays the foundation for future study to extend these results through the inclusion of more participants and activities.
Esthetic root coverage with double papillary subepithelial connective tissue graft: a case report
Authors: Ramesh Babu Mutthineni, Ram Babu Dudala, Arpita Ramisetty
Journal: Case Rep Dent (2014)

Patients today have become excessively concerned about esthetics. These esthetic concerns of patients have become an integral part of periodontal practice. Gingival recession is an esthetic problem that can be successfully treated by means of several mucogingival surgical approaches, any of which can be used, provided that the biologic conditions for accomplishing root coverage are satisfied with no loss of soft and hard tissue height interdentally. There are currently different techniques for root coverage which include pedicle grafts, free gingival grafts, connective tissue grafts, and guided tissue regeneration (GTR). This paper reports a case in which a new double papillary connective tissue graft technique has been used in the treatment of gingival recession.
Genetic testing for maturity-onset diabetes of the young resulting in an upgraded genetic classification of an HNF1A gene variant: a case report
Authors: Naama Pollack-Schreiber, Benjamin Udoka Nwosu, Parissa Salemi
Journal: Front Endocrinol (Lausanne) (2023)
Keywords: hnf1a, mody, case report, diabetes mellitus, mutation
MeSH terms: Diabetes Mellitus, Type 2 / diagnosis, Diabetes Mellitus, Type 2 / genetics, Diabetes Mellitus, Type 2 / pathology, Case Reports, Genetic Testing, Hepatocyte Nuclear Factor 1-alpha / genetics, Hepatocyte Nuclear Factor 1-alpha / metabolism, Humans, Mutation, Phenotype, HNF1A protein, human, Hepatocyte Nuclear Factor 1-alpha, Mason-Type Diabetes

The frequent misdiagnosis of MODY (Maturity-Onset Diabetes of the Young) subtypes makes it necessary to clarify the clinical spectrum of the disease phenotypes in suspected subjects so that accurate diagnosis and management plans can be introduced as early as possible in the course of the disease. We report the case of a MODY subtype that was initially characterized as variant of uncertain significance (VUS) but was later changed to a likely pathogenic variant following our report of two cases where the full expression of the clinical phenotype was described. HNF1A-MODY (Maturity Onset Diabetes of the Young type 3) is one of the most common subtypes of MODY. Due to its variable clinical presentation, and the concerns with being misdiagnosed as either type 1 or type 2 diabetes, DNA sequencing is needed to confirm the diagnosis. This case report illustrates the clinical scenario leading to the identification of the gene variant c.416T>C(p. Leu139Pro) in the HNF1A gene, initially reported as a VUS and later upgraded to a likely pathogenic variant. Though the mutation was described in two Czech family members in 2020, the clinical course and phenotype was not characterized. Therefore, there was the need to fully describe the spectrum of the disease arising from the mutation. The case report fully describes the clinical spectrum of this mutation and provides much needed clinical management approaches to the wider scientific community.
Delayed diagnosis of infected posterior mediastinal teratoma
Authors: Kr Bharath Kumar Reddy, G Rajashekhar Murthy, Sanjay Ks
Journal: APSP J Case Rep (2013)
Keywords: empyema thoracic, infected teratoma, mediastinum
MeSH terms: Case Reports

Mediastinal teratomas are rarely reported in children. We report a 12-year-old child, diagnosed and treated as empyema thoracis in a peripheral setting for 18 months. In our centre, CT scan performed revealed a well circumscribed multiloculated cystic lesion containing fat, bone and teeth, suggestive of a teratoma. The mass was excised and found to be an infected posterior mediastinal teratoma, confirmed on histopathology.
Activated PI3K δ syndrome 1 mimicking systemic lupus erythematosus and secondary Sjögren's syndrome-like phenotype without recurrent infections: A case report
Authors: Jing Yin, Jijun Ma, Jingyue Xia, Yang Cao, Chongwei Li
Journal: Front Pediatr (2022)
Keywords: pik3cd, sjögren's syndrome, activated phosphoinositide 3-kinase-δ syndrome, autoimmune, p110δ, systemic lupus erythematosus
MeSH terms: Case Reports

Activated phosphoinositide 3-kinase-δ syndrome 1 (APDS1) is a combined immunodeficiency caused by a heterozygous gain-of-function mutation in PIK3CD, encoding the p110δ catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ). APDS1 is characterized by recurrent sinopulmonary infections, leading to airway damage, chronic herpes viremia, lymphoproliferation, and autoimmune and inflammatory diseases. Several cases of systemic lupus erythematosus (SLE) have been reported in APDS1; however, Sjögren's syndrome (SS) or an SS-like phenotype is rarely described in patients with APDS1. In this study, we report a 4-year-old girl with APDS1 who did not experience recurrent sinopulmonary infections and chronic viremia but presented with cytopenia, proteinuria, hypocomplementemia, and positive antinuclear antibodies that met the classification criteria for SLE. Additionally, the patient also mimicked a secondary SS-like phenotype based on recurrent parotitis and labial salivary gland biopsy. The patient achieved remission after treatment with sirolimus and immunosuppressive therapy. This case report enriches the clinical phenotype of APDS1 and provides a reference for the diagnosis and therapy of patients with APDS1.
Complex Elbow Dislocations and the "Terrible Triad" Injury
Authors: Alistair D R Jones, Robert W Jordan
Journal: Open Orthop J (2017)
Keywords: complex dislocation, elbow, elbow dislocations, terrible triad, ulno-humeral joint
MeSH terms: Review

Background:
The elbow is the second most commonly dislocated joint in adults and up to 20% of dislocations are associated with a fracture. These injuries can be categorised into groups according to their mechanism and the structures injured.
Methods:
This review includes a literature search of the current evidence and personal experiences of the authors in managing these injuries.
Results:
All injuries are initially managed with closed reduction of the ulno-humeral joint and splinting before clinical examination and radiological evaluation. Dislocations with radial head fractures should be treated by restoring stability, with treatment choice depending on the type and size of radial head fracture. Terrible triad injuries necessitate operative treatment in almost all cases. Traditionally the LCL, MCL, coronoid and radial head were reconstructed, but there is recent evidence to support repairing of the coronoid and MCL only if the elbow is unstable after reconstruction of lateral structures. Surgical treatment of terrible triad injuries carries a high risk of complications with an average reoperation rate of 22%. Varus posteromedial rotational instability fracture-dislocations have only recently been described as having the potential to cause severe long-term problems. Cadaveric studies have reinforced the need to obtain post-reduction CT scans as the size of the coronoid fragment influences the long-term stability of the elbow. Anterior dislocation with olecranon fracture has the same treatment aims as other complex dislocations with the added need to restore the extensor mechanism.
Conclusion:
Complex elbow dislocations are injuries with significant risk of long-term disability. There are several case-series in the literature but few studies with sufficient patient numbers to provide evidence over level IV.
Sclerosing stromal tumor of ovary: a case report
Authors: Menka Khanna, Ashish Khanna, Mridu Manjari
Journal: Case Rep Pathol (2012)

Sclerosing stromal tumor (SST) is an extremely rare and distinctive sex cord stromal tumor which occurs predominantly in the second and third decades of life. We report a case of a 32-year-old woman who developed a sclerosing stromal tumor of ovary and presented with irregular menstruation and pelvic pain. Her hormonal status was normal but CA-125 was raised. She was suspected to have a malignant tumor on computed tomography and underwent bilateral salpingo-oopherectomy. It is therefore necessary to keep in mind the possibility of sclerosing stromal tumor in a young woman.
Rare osteodysplasia of the temporal bone
Authors: Marcos L Antunes, José R G Testa, Ricardo Frazatto, José A F Barberi, Rogério F N D Silva
Journal: Braz J Otorhinolaryngol (2005)
MeSH terms: Camurati-Engelmann Syndrome / diagnostic imaging, Osteopetrosis / diagnostic imaging, Rare Diseases / diagnostic imaging, Temporal Bone / diagnostic imaging, Case Reports, Adult, Camurati-Engelmann Syndrome / therapy, Child, Female, Humans, Male, Middle Aged, Osteopetrosis / therapy, Rare Diseases / therapy, Tomography, X-Ray Computed

Temporal bone osteodysplasia can produce many different symptoms, such as involvement restricted to the temporal bone or impairment of other bones. We consider, in this study two entities that are rare osteodysplasia cases, which are osteopetrosis and Camurati-Engelmann disease, the latter being extremely rare. We present two cases of benign form of osteopetrosis (Albers-Schulenburg's disease), a patient of 11 years old and another one of 48 years old, both male, and a patient of 28 years old, female, with Camurati-Engelmann's disease. The facial palsy was a manifestation in two of the patients. We discuss some aspects about the clinical manifestations, radiological findings, as well as differential diagnostic and therapy in view of the complications of the diseases.