OpenMed/multicare-articles huggingface dataset:
Expanding the Clinical Spectrum of LONP1-Related Mitochondrial Cytopathy
Authors: Fady Hannah-Shmouni, Lauren MacNeil, Lauren Brady, Mats I Nilsson, Mark Tarnopolsky
Journal: Front Neurol (2019)
Keywords: lonp1, electron microscopy, granular bodies, mitochondrial cytopathy, whole exome sequencing
MeSH terms: Case Reports

Pathogenic variants in the LONP1 gene have been associated with CODAS syndrome (Cerebral, Ocular, Dental, Auricular, and Skeletal Anomalies Syndrome). A recent report identified the first newborn case with LONP1-related mitochondrial cytopathy due to a compound heterozygous pathogenic variant in LONP1 without features of CODAS. The proband had manifested with severe congenital lactic acidosis and profound multiple respiratory chain complex activity deficiencies associated with the quantitative loss of mtDNA copy number in muscle. A subsequent report identified two siblings with regression during infancy, profound hypotonia and muscle weakness, severe intellectual disability, progressive cerebellar atrophy, where muscle biopsy showed an electron dense mitochondrial inclusions without ragged-red fibers and normal electron transport chain enzyme activities. Here, we report an additional case of autosomal recessive mitochondrial cytopathy due to a homozygous missense variant in LONP1 that was identified on whole exome sequencing (c.810G > A; p.D463N). The proband, a 20-year-old male born to consanguineous parents, presented with global developmental delay, emotional outbursts, speech and swallowing difficulties, hypotonia, and ataxia since childhood. Muscle biopsy showed massive granular bodies, increased oxidative stress, and autophagic block and reduced mitochondrial state 3 respiration. We have identified another case of LONP1-related mitochondrial cytopathy further confirming a neurological phenotype without CODAS features.
ISS--an electronic syndromic surveillance system for infectious disease in rural China
Authors: Weirong Yan, Lars Palm, Xin Lu, Shaofa Nie, Biao Xu, Qi Zhao, Tao Tao, Liwei Cheng, Li Tan, Hengjin Dong, Vinod K Diwan
Journal: PLoS One (2013)
MeSH terms: Communicable Diseases / epidemiology, Public Health Informatics / methods, Public Health Surveillance / methods, Rural Population, Research Support, Non-U.S. Gov't, China / epidemiology, Disease Outbreaks, Humans, Internet, Pilot Projects

Background:
Syndromic surveillance system has great advantages in promoting the early detection of epidemics and reducing the necessities of disease confirmation, and it is especially effective for surveillance in resource poor settings. However, most current syndromic surveillance systems are established in developed countries, and there are very few reports on the development of an electronic syndromic surveillance system in resource-constrained settings.
Objective:
This study describes the design and pilot implementation of an electronic surveillance system (ISS) for the early detection of infectious disease epidemics in rural China, complementing the conventional case report surveillance system.
Methods:
ISS was developed based on an existing platform 'Crisis Information Sharing Platform' (CRISP), combining with modern communication and GIS technology. ISS has four interconnected functions: 1) work group and communication group; 2) data source and collection; 3) data visualization; and 4) outbreak detection and alerting.
Results:
As of Jan. 31(st) 2012, ISS has been installed and pilot tested for six months in four counties in rural China. 95 health facilities, 14 pharmacies and 24 primary schools participated in the pilot study, entering respectively 74,256, 79,701, and 2330 daily records into the central database. More than 90% of surveillance units at the study sites are able to send daily information into the system. In the paper, we also presented the pilot data from health facilities in the two counties, which showed the ISS system had the potential to identify the change of disease patterns at the community level.
Conclusions:
The ISS platform may facilitate the early detection of infectious disease epidemic as it provides near real-time syndromic data collection, interactive visualization, and automated aberration detection. However, several constraints and challenges were encountered during the pilot implementation of ISS in rural China.
The Partial Duplication of the 5' Segment of KMT2A Revealed KMT2A- MLLT10 Rearrangement in a Boy with Acute Myeloid Leukemia
Authors: Hiroko Fukushima, Toru Nanmoku, Sho Hosaka, Yuni Yamaki, Nobutaka Kiyokawa, Takashi Fukushima, Ryo Sumazaki
Journal: Case Rep Pediatr (2017)
MeSH terms: Case Reports

The duplication of 5' segment of KMT2A is a rare molecular event in childhood leukemia, and the influence on prognosis is unknown. Here, we report on a boy who developed acute monocytic leukemia. Fluorescence in situ hybridization revealed the duplication of the 5' segment with 2 normal alleles at KMT2A which was eventually found to be fused with MLLT10. Chemotherapy promptly induced the first complete remission in the patient at our facility, and the patient remained in first complete remission with negative minimal residual disease at 3.5 years from diagnosis. Our case is similar to two previously reported patients who had partial duplication of the 5' segment of KMT2A with a KMT2A-MLLT10 rearrangement. Further studies and experience with this cryptic translocation may shed more light on the management of acute myeloid leukemia.
Co-existing Paget's disease and ankylosing spondylitis resulting in panthoracic pagetic vertebral ankylosis
Authors: David McKean, Alpesh Kothari, Jane Chen, Richard Sidebottom, Victoria Chan, Sarah Yanny, James L Teh
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Pagetic vertebral ankylosis is an uncommon presentation and occurs when Paget's disease is associated with diffuse idiopathic skeletal hyperostosis and ankylosing spondylitis. In these cases, the pagetic trait extends from one vertebra to another by invasion of the intervertebral disc space. Such acquired vertebral ankylosis is extremely uncommon but possible when bony bridging syndesmophytes or osteophytes are present. We describe one such case, where a delayed diagnosis resulted in the most extensive pagetic vertebral ankylosis described in the literature and severe patient morbidity.
Late-onset endophthalmitis secondary to exposed glaucoma tube implant in a rare case of paediatric glaucoma
Authors: Akshatha Ranganath, Adnan Hashim
Journal: Case Rep Ophthalmol Med (2011)
MeSH terms: Case Reports

Glaucoma drainage implants (GDIs) are used to treat paediatric glaucoma resistant to conventional medical and surgical treatment, achieving good intraocular pressure (IOP) control and long-term success. Late endophthalmitis is a rare complication that may develop following GDI surgery. A 17-year-old male presented with acute endophthalmitis 2 years after Ahmed glaucoma valve implantation with pericardial patch graft for management of refractory glaucoma secondary to congenital ectropion uveae. The glaucoma tube was exposed due to erosion of the overlying conjunctiva with no visible pericardial graft. After control of active infection, he underwent tube revision surgery whereby the exposed tube was retained and repatched with a double-thickness pericardial patch graft. He did well following surgery with good control of IOP and restoration of vision. Conjunctival dehiscence with graft melting over the GDI tube presented a major risk factor for endophthalmitis. Prompt surgical revision of an exposed tube is highly recommended to avoid ocular morbidity.
Adapting Lymphedema Treatment in Patients with a Mental Disability
Authors: Maria de Fátima Guerreiro Godoy, Lívia Maria Pereira de Godoy, Rodrigo Ocampos Troitino, José Maria Pereira de Godoy
Journal: Case Rep Psychiatry (2017)
MeSH terms: Case Reports

Background and purpose:
Mental disability is often characterized by significant limitations in adaptive skills. When this condition is associated with lymphedema, treatment requires greater commitment of the care team. The objective of this study is to report the treatment of lymphedema using only one therapeutic technique, a low-stretch grosgrain stocking.
Case report:
We report the case of a 14-year-old mentally challenged female patient with lymphedema of the left leg, motor difficulties, and impaired speech and sight. According to the caregiver, lymphedema was present at birth; however, the patient had not been submitted to specific treatment. Thus, only one technique, an adapted low-stretch grosgrain compression stocking, was proposed as it could be used during daily life activities. The adaptation involved the grosgrain stocking, fastened using eyelets and cord up to the thigh, being sewn onto a pair of cotton shorts. The result was a clinical improvement with reductions in the perimeter and volume due to the compliance of the patient and the family to treatment.
Conclusion:
The use of a single treatment strategy in the form of a low-stretch stocking in such cases together with the involvement of a multidisciplinary team can lead to good treatment outcomes for chronic lymphedema.
Hypothyroidism associated with short bowel syndrome in children: a report of six cases
Authors: Ananda Castro Vieira Passos, Fábio de Barros, Durval Damiani, Beatriz Semer, Wendy Cira Justiniano Cespedes, Bruna Sannicola, Ana Cristina Aoun Tannuri, Uenis Tannuri
Journal: Arch Endocrinol Metab (2018)
MeSH terms: Hypothyroidism / etiology, Short Bowel Syndrome / complications, Case Reports, Adolescent, Child, Child, Preschool, Enteral Nutrition, Hormone Replacement Therapy, Humans, Hypothyroidism / therapy, Infant, Iodine / deficiency, Iodine / therapeutic use, Parenteral Nutrition, Short Bowel Syndrome / therapy, Treatment Outcome, Iodine

Short bowel syndrome (SBS) is the leading cause of intestinal failure in children, a condition of absence of sufficient bowel to meet the nutritional and metabolic needs of a growing individual. The treatment of patients in this situation is based on the association of parenteral and enteral nutrition for prolonged periods of time until intestinal rehabilitation occurs with complete enteral nutrition autonomy. Six consecutive cases of children with SBS (residual intestinal length of 5 cm to 75 cm) were managed with this program and were diagnosed with associated hypothyroidism during the treatment (ages at the diagnosis 5 months to 12 years). All patients were successfully treated with oral hormone reposition therapy and in one patient, the replacement was performed via rectal enemas due to a complete absence of small bowel. Although iodine deficiency associated to long-term parenteral nutrition is a well-known condition, this is the first report in the literature about an expressive number of patients with hypothyroidism detected in patients with SBS during the prolonged treatment for intestinal rehabilitation.
A close call: does the location of incision at cesarean delivery matter in patients with vasa previa? A case report
Authors: Werner M Neuhausser, Laxmi V Baxi
Journal: F1000Res (2013)

We present here a case of vasa previa in a multipara, diagnosed at the time of her late second trimester ultrasonogram. The patient subsequently underwent an elective cesarean section after 37 weeks gestation, giving birth to a healthy child with an uneventful post-partum, neonatal and infant course. At the time of cesarean section, the incision was gradually deepened in layers through the myometrium by utmost care allowing the amniotic sac to protrude through the uterine incision hereby avoiding laceration of the vasa previa and its branches. Fetal exsanguination and a need for blood transfusion as well as a possible adverse neonatal course were therefore avoided.
Customizable orthopaedic oncology implants: one institution's experience with meeting current IRB and FDA requirements
Authors: Alexander R Willis, Joseph A Ippolito, Francis R Patterson, Joseph Benevenia, Kathleen S Beebe
Journal: Springerplus (2016)

Background:
Customizable orthopaedic implants are often needed for patients with primary malignant bone tumors due to unique anatomy or complex mechanical problems. Currently, obtaining customizable orthopaedic implants for orthopaedic oncology patients can be an arduous task involving submitting approval requests to the Institutional Review Board (IRB) and the Food and Drug Administration (FDA). There is great potential for the delay of a patient's surgery and unnecessary paperwork if the submission pathways are misunderstood or a streamlined protocol is not in place.
Purpose:
The objective of this study was to review the existing FDA custom implant approval pathways and to determine whether this process was improved with an institutional protocol.
Methods:
An institutional protocol for obtaining IRB and FDA approval for customizable orthopaedic implants was established with the IRB at our institution in 2013. This protocol was approved by the IRB, such that new patients only require submission of a modification to the existing protocol with individualized patient information. During the two-year period of 2013-2014, eight patients were retrospectively identified as having required customizable implants for various orthopaedic oncology surgeries. The dates of request for IRB approval, request for FDA approval, and total time to surgery were recorded, along with the specific pathway utilized for FDA approval.
Results:
The average patient age was 12 years old (7-21 years old). The average time to IRB approval of a modification to the pre-approved protocol was 14 days (7-21 days). Average time to FDA approval after submission of the IRB approval to the manufacturer was 12.5 days (7-19 days). FDA approval was obtained for all implants as compassionate use requests in accordance with Section 561 of the Federal Food Drug and Cosmetic Act's expanded access provisions.
Conclusions:
Establishment of an institutional protocol with pre-approval by the IRB can expedite the otherwise time-consuming and complicated process of obtaining customizable orthopaedic implants for orthopaedic oncology patients.
Level of evidence:
Retrospective case series, Level IV. See the Guidelines for authors for a complete description of levels of evidence.
Cryptococcal Meningitis in an Apparent Immunocompetent Patient
Authors: Marian Poley, Richard Koubek, Leonard Walsh, Brian McGillen
Journal: J Investig Med High Impact Case Rep (2019)
Keywords: alcohol abuse, cryptococcal meningitis, immunocompetence
MeSH terms: Cryptococcus neoformans / isolation & purification, Immunocompetence / immunology, Meningitis, Cryptococcal / diagnosis, Case Reports, Adult, Cerebrospinal Fluid / microbiology, Humans, Male, Meningitis, Cryptococcal / immunology

Cryptococcal meningitis is an uncommon and severe infection that tends to affect immunocompromised hosts worldwide and in the United States. Annually it is estimated that there are 200 000 cases of cryptococcal meningitis, with the most recent estimate of 3400 cases per year in the United States alone. However, despite the low incidence, 1-year mortality is estimated at 20% to 30% even with long-term consolidation antifungal therapy. A 37-year-old man presented to the emergency department with headaches, dysarthria, hallucinations, and acute worsening of altered mental status, and he was found to have increased intracranial pressure, cerebrospinal fluid leukocytosis, and few encapsulated yeasts consistent with Cryptococcus neoformans meningitis in addition to radiologic evidence consistent with a cryptococcoma of the lungs. This report highlights the occurrence of Cryptococcus neoformans meningitis in a presumed immunocompetent host. The clinician should be aware of sources of minor immunosuppression, as they may contribute to development of Cryptococcus neoformans meningitis. Mortality in this condition remains high due to subacute presentations and delayed diagnosis in non-immunocompromised patients.
Giant lipoma: an unusual cause of carpal tunnel syndrome
Authors: Divesh Jalan, Bhavuk Garg, Kanniraj Marimuthu, Prakash Kotwal
Journal: Pan Afr Med J (2011)
Keywords: lipoma, carpal tunnel syndrome, median nerve, nerve compression
MeSH terms: Carpal Tunnel Syndrome / etiology, Decompression, Surgical, Lipoma / complications, Soft Tissue Neoplasms / complications, Wrist / pathology, Case Reports, Carpal Tunnel Syndrome / surgery, Humans, Lipoma / pathology, Lipoma / surgery, Magnetic Resonance Imaging, Male, Median Nerve / pathology, Median Nerve / physiopathology, Middle Aged, Soft Tissue Neoplasms / pathology, Soft Tissue Neoplasms / surgery, Wrist / surgery

Carpal tunnel syndrome, in its idiopathic form, is an extremely common entrapment neuropathy in the clinical practice however secondary compressive causes are rare. Among secondary causes, tumors are even rarer. Although lipomas are the most common soft tissue tumor in the body, <5% of the benign tumors of the hand are lipomas. A 48-year old manual laborer man presented to us with a two-year history of numbness, tingling and burning pain in the palmar surface of the left hand and fingers along with a progressively increasing swelling in the hand and wrist. His medical history was unremarkable and no trauma episode was reported. According to the clinical examination and the result of median nerve conduction study (NCS) the diagnosis of carpal tunnel syndrome was established. Operative release of the transverse carpal ligament was subsequently performed along with excision of the lipoma using extensile open approach. Intraoperatively, median nerve and its digital branches were found to be stretched over the giant lipoma causing substantial compression to median nerve. Histopathological findings of the resected mass were consistent with lipoma. After two years the patient was pain-free without any sign of tumor recurrence. Lipomas are infrequently seen in hand and wrist, however giant lipoma as a cause of secondary carpal tunnel syndrome is even more rare, which makes this case interesting.
Acute thromboembolism in a solitary kidney: revascularization by means of isolated transcatheter thrombus aspiration
Authors: Nelson Neto, Joaquin Gil Romero, Juan Manuel Sanchis, Jorge Guijarro, Julio Palmero da Cruz
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Acute renal infarction occurs usually secondary to thromboembolism rather than in situ thrombosis, with atrial fibrillation being the main predisposing factor. Its non-specific presentation, being similar to renal colic and pyelonephritis, often leads to diagnostic and treatment delays. Prompt diagnosis and treatment are crucial for the outcome, as the precise therapeutic window remains unclear. Renal Doppler ultrasound is the optimal initial diagnostic study, which, if inconclusive, should be followed by contrast-enhanced CT. Despite the lack of specific guidelines, treatment is mainly based on anticoagulation and percutaneous endovascular revascularization therapy; the latter includes pharmacomechanical thrombectomy; intra-arterial thrombolysis alone or in combination with thrombus aspiration; and angioplasty, with or without stenting. We present a case of renal thromboembolism diagnosed early during the postoperative period in a patient with a single functioning kidney. Renal arterial flow restoration was achieved by means of transcatheter thrombus aspiration. This is the first report showing the effectiveness of this procedure alone as an alternative to those used so far.
Frontal sinus infection leading to sino-orbital aspergillosis: a case report
Authors: Camille Yvon, Didar Abdulla, Sarah Watson, Izhar Bagwan, Christopher Mclean
Journal: Pan Afr Med J (2021)
Keywords: aspergilloma, case report, frontal sinus, fungal disease, voriconazole
MeSH terms: Aspergillosis / diagnosis, Aspergillosis / drug therapy, Diabetes Mellitus, Type 2 / drug therapy, Frontal Sinus / diagnostic imaging, Frontal Sinusitis, Orbital Diseases / diagnosis, Orbital Diseases / etiology, Case Reports, Aged, 80 and over, Antifungal Agents / therapeutic use, Humans, Antifungal Agents

Sino-orbital aspergillosis is an uncommon but aggressive infection. It rarely originates from the frontal sinus due to the complex anatomy of the frontal recess and anteromedial position of its ostium. An 87-year-old man of Nigerian heritage with a history of multiple myeloma, chronic kidney disease and type 2 diabetes, presented to the eye clinic with a right tense swollen eyelid and proptosis. Computed tomography (CT) and magnetic resonance imaging (MRI) scan revealed a right superomedial mass communicating with the frontal sinus and biopsy confirmed an orbital aspergilloma. The patient was successfully treated with debulking surgery and anti-fungal treatment despite developing side effects to the drugs. To improve prognosis, ophthalmologists should be aware of this distinct entity and use a multi-disciplinary approach.
Parallel Multi-Gene Panel Testing for Diagnosis of Idiopathic Hypogonadotropic Hypogonadism/Kallmann Syndrome
Authors: Manickavasagam Senthilraja, Aaron Chapla, Felix K Jebasingh, Dukhabhandhu Naik, Thomas V Paul, Nihal Thomas
Journal: Case Rep Genet (2019)
MeSH terms: Case Reports

Kallmann syndrome (KS)/Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by hypogonadotropic hypogonadism and anosmia or hyposmia due to the abnormal migration of olfactory and gonadotropin releasing hormone producing neurons. Multiple genes have been implicated in KS/IHH. Sequential testing of these genes utilising Sanger sequencing is time consuming and not cost effective. The introduction of parallel multigene panel sequencing of small gene panels for the identification of causative gene variants has been shown to be a robust tool in the clinical setting. Utilizing multiplex PCR for the four gene KS/IHH panel followed by NGS, we describe herewith two cases of hypogonadotropic hypogonadism with a Prokineticin receptor 2 (PROKR2) gene and KAL1 gene mutation. The subject with a PROKR2 mutation had a normal perception of smell and normal olfactory bulbs on imaging. The subject with a KAL1 gene mutation had anosmia and a hypoplastic olfactory bulb.