OpenMed/multicare-articles huggingface dataset:
Pseudohypoaldosteronism type 1: clinical features and management in infancy
Authors: N Amin, N S Alvi, J H Barth, H P Field, E Finlay, K Tyerman, S Frazer, G Savill, N P Wright, T Makaya, T Mushtaq
Journal: Endocrinol Diabetes Metab Case Rep (2013)

Type 1 pseudohypoaldosteronism (PHA) is a rare heterogeneous group of disorders characterised by resistance to aldosterone action. There is resultant salt wasting in the neonatal period, with hyperkalaemia and metabolic acidosis. Only after results confirm isolated resistance to aldosterone can the diagnosis of type 1 PHA be confidently made. Type 1 PHA can be further classified into i) renal type 1 (autosomal dominant (AD)) and ii) multiple target organ defect/systemic type 1 (autosomal recessive (AR)). The aim of this case series was to characterise the mode of presentation, management and short-term clinical outcomes of patients with PHA type 1. Case notes of newly diagnosed infants presenting with PHA type 1 were reviewed over a 5-year time period. Seven patients were diagnosed with PHA type 1. Initial presentation ranged from 4 to 28 days of age. Six had weight loss as a presenting feature. All subjects had hyperkalaemia, hyponatraemia, with elevated renin and aldosterone levels. Five patients have renal PHA type 1 and two patients have systemic PHA type, of whom one has had genetic testing to confirm the AR gene mutation on the SCNN1A gene. Renal PHA type 1 responds well to salt supplementation, whereas management of patients with systemic PHA type 1 proves more difficult as they are likely to get frequent episodes of electrolyte imbalance requiring urgent correction.
Learning points:
Patients with type 1 PHA are likely to present in the neonatal period with hyponatraemia, hyperkalaemia and metabolic acidosis and can be diagnosed by the significantly elevated plasma renin activity and aldosterone levels.The differential diagnosis of type 1 PHA includes adrenal disorders such as adrenal hypoplasia and congenital adrenal hyperplasia; thus, adrenal function including cortisol levels, 17-hydroxyprogesterone and a urinary steroid profile are required. Secondary (transient) causes of PHA may be due to urinary tract infections or renal anomalies; thus, urine culture and renal ultrasound scan are required respectively.A differentiation between renal and systemic PHA type 1 may be made based on sodium requirements, ease of management of electrolyte imbalance, sweat test results and genetic testing.Management of renal PHA type 1 is with sodium supplementation, and requirements often decrease with age.Systemic PHA type 1 requires aggressive and intensive fluid and electrolyte management. Securing an enteral feeding route and i.v. access are essential to facilitate ongoing therapy.In this area of the UK, the incidence of AD PHA and AR PHA was calculated to be 1:66 000 and 1:166 000 respectively.
Rhodotorula mucilaginosa Fungemia, a Rare Opportunistic Infection without Central Venous Catheter Implantation, Successfully Treated by Liposomal Amphotericin B
Authors: Ryuichi Hirano, Tatsuro Mitsuhashi, Katsuyoshi Osanai
Journal: Case Rep Infect Dis (2022)
MeSH terms: Case Reports

Background:
Fungemia due to Rhodotorula mucilaginosa is rare and highly resistance to antifungal therapy. Since most cases of R. mucilaginosa fungemia are attributed to medical devices, limited information is currently available on infection without central venous catheter (CVC) implantation. We herein report a case of R. mucilaginosa fungemia without implantation of CVC, successfully treated by liposomal amphotericin B (L-AMB). Case Presentation. An 81-year-old man with a history of chronic obstructive lung disease and rheumatoid arthritis was admitted with dyspnea and fever. The present case had no previous history of CVC implantation. Candidemia was suspected based on yeast and salmon-pink colonies in blood cultures, and thus, micafungin (MCFG) was administered. The isolated yeast was identified as R. mucilaginosa, which exhibited resistance to MCFG. Therefore, antifungal therapy was changed to L-AMB. The sterile blood culture and defervescence were observed from the initiation of L-AMB.
Conclusion:
Although the obvious entry point was unclear, long-term immunosuppressive therapy for RA may have damaged the gastrointestinal tract, which leading to the bacterial translocation of R. mucilaginosa. An early class switch to L-AMB was effective. Physicians need to consider the administration of L-AMB in cases suspected of R. mucilaginosa fungemia following the detection of salmon-pink colonies in blood cultures.
Fitz-hugh-curtis syndrome in a male patient: a case report and literature review
Authors: Shireesh Saurabh, Eric Unger, Constantinos Pavlides
Journal: Case Rep Surg (2012)
MeSH terms: Case Reports, Retracted Publication

Fitz-Hugh-Curtis syndrome is a condition characterized by inflammation of the liver capsule with concomitant pelvic inflammation without involvement of liver parenchyma. It is classically seen in young women who present with sharp, pleuritic right upper quadrant pain, usually but not always accompanied by symptoms of pelvic inflammatory disease (PID), and is frequently confused with biliary tract disease. Rarely the syndrome has been reported in males, and hematogenous and lymphatic spread to liver is thought to be the underlying mechanism. Serological tests and computed tomography (CT) scan may aid in diagnosis of Fitz-Hugh-Curtis syndrome. Definitive diagnosis is made by laparoscopy, which provides both diagnostic and therapeutic benefits. We report a case of Fitz-Hugh-Curtis syndrome in a young male patient, which was diagnosed and treated by laparoscopy. We also include a review of the literature.
Functional Validation of an Alpha-Actinin-4 Mutation as a Potential Cause of an Aggressive Presentation of Adolescent Focal Segmental Glomerulosclerosis: Implications for Genetic Testing
Authors: Di Feng, Julia M Steinke, Ramaswamy Krishnan, Gabriel Birrane, Martin R Pollak
Journal: PLoS One (2016)
MeSH terms: Actinin / genetics, Glomerulosclerosis, Focal Segmental / genetics, Case Reports, Adolescent, Female, Fluorescent Antibody Technique, Genetic Testing, Glomerulosclerosis, Focal Segmental / diagnosis, Humans, Mutation / genetics, ACTN4 protein, human, Actinin

Genetic testing in the clinic and research lab is becoming more routinely used to identify rare genetic variants. However, attributing these rare variants as the cause of disease in an individual patient remains challenging. Here, we report a patient who presented with nephrotic syndrome and focal segmental glomerulosclerosis (FSGS) with collapsing features at age 14. Despite treatment, her kidney disease progressed to end-stage within a year of diagnosis. Through genetic testing, an Y265H variant with unknown clinical significance in alpha-actinin-4 gene (ACTN4) was identified. This variant has not been seen previously in FSGS patients nor is it present in genetic databases. Her clinical presentation is different from previous descriptions of ACTN4 mediated FSGS, which is characterized by sub-nephrotic proteinuria and slow progression to end stage kidney disease. We performed in vitro and cellular assays to characterize this novel ACTN4 variant before attributing causation. We found that ACTN4 with either Y265H or K255E (a known disease-causing mutation) increased the actin bundling activity of ACTN4 in vitro, was associated with the formation of intracellular aggregates, and increased podocyte contractile force. Despite the absence of a familial pattern of inheritance, these similar biological changes caused by the Y265H and K255E amino acid substitutions suggest that this new variant is potentially the cause of FSGS in this patient. Our studies highlight that functional validation in complement with genetic testing may be required to confirm the etiology of rare disease, especially in the setting of unusual clinical presentations.
Isolated bilateral hypoglossal nerve paralysis following an atlanto-occipital dislocation: A case report
Authors: Tomoo Mano, Saori Tatsumi, Shigekazu Fujimura, Naoki Hotta, Akira Kido
Journal: Front Neurol (2022)
Keywords: acute epidural hematoma, bilateral hypoglossal paralysis, dysarthria, dysphagia, vertical atlantoaxial dislocation
MeSH terms: Case Reports

The present report highlights a case of successful treatment of an 11-year-old male patient who presented with an atlanto-occipital dislocation and multiple fractures of the forearm, pelvis, and lower leg because of a fall. The patient experienced dysarthria and paralysis of the tongue, which became completely immobile and could not be moved from side to side, impeding speech. The patient also experienced dysphagia due to the inability to propel food toward the pharynx and chewing attempts resulted in scattering of food residue throughout the oral cavity. The lack of tongue mobility led to saliva accumulation, forcing the patient to swallow frequently, which was possible as larynx movement was unaffected. The other cranial and motor sensory nerves appeared normal. Our diagnostic examinations confirmed the presence of isolated bilateral paralysis of the hypoglossal nerve secondary to traction at the base of the skull. The patient was still unable to protrude his tongue and tongue gradually atrophied two weeks after admission. Electromyography revealed denervation of the tongue and minimal active contraction of the single motor units. Immobilization therapy and rehabilitation therapy were initiated to improve tongue movement, but this was unsuccessful and one month after the accident, the patient's tongue was still atrophied. The patient was placed on a soft food diet and experienced no difficulty in swallowing either saliva or food three months after admission. Tongue mobility was deemed normal. Electromyography six months after the initial episode revealed normal motor unit potentials during contractions. We postulate that compression and stretching of the bilateral hypoglossal nerves against the greater horn of the hyoid bone was a probable cause of the hypoglossal palsy. The use of immobilization and rehabilitation therapy likely supported the recovery of functionality and resulted in a good prognosis.
Advanced Thyroid Follicular Carcinoma in a Pregnant Woman
Authors: Victor Rocha Pinheiro, Bruno Minoru Miamoto, Júlia Thalita Queiróz Rocha, Carlos Segundo Paiva Soares, José Vicente Tagliarini, Roberto Antônio de Araujo Costa, Glaucia Maria F da Silva Mazeto, Mariangela Esther Alencar Marques, Cristiano Claudino Oliveira
Journal: Case Rep Pathol (2019)
MeSH terms: Case Reports

The diagnostic and therapeutic approach for pregnant women with thyroid nodules can present a challenge, especially concerning surgical procedures. In the context of malignant diagnosis, by fine needle aspiration (FNA), during pregnancy, the uncertainty lies in performing surgery. This article reports the case of a 41-year-old pregnant woman in her first gestation, who sought medical care complaining of right shoulder pain. Imaging workup depicted the destruction of the humeral head and involvement of the surrounding soft tissue. She was 20 weeks pregnant. The histological report favored the diagnosis of malignancy and the thyroid as the primary site. At 30 weeks of gestation, the patient underwent a cesarean section, a total thyroidectomy, and total resection of the metastasis. The child was born healthy, but one year after the diagnosis, the patient died. Bone and soft tissue metastasis of thyroid neoplasms are not very common and indicate poor prognosis.
Retinal detachment following focal laser to ruptured retinal artery macro aneurysm
Authors: Oli Avadhesh, Balakrishnan Divya
Journal: Rom J Ophthalmol (2021)
Keywords: focal laser, retinal arterial macroaneurysm, retinal detachment
MeSH terms: Bevacizumab / administration & dosage, Laser Coagulation / adverse effects, Postoperative Complications, Retinal Arterial Macroaneurysm / complications, Retinal Artery / diagnostic imaging, Retinal Detachment / etiology, Visual Acuity, Case Reports, Angiogenesis Inhibitors / administration & dosage, Female, Fluorescein Angiography / methods, Fundus Oculi, Humans, Intravitreal Injections, Middle Aged, Receptors, Vascular Endothelial Growth Factor / antagonists & inhibitors, Retinal Arterial Macroaneurysm / diagnosis, Retinal Arterial Macroaneurysm / surgery, Retinal Detachment / diagnosis, Retinal Detachment / drug therapy, Angiogenesis Inhibitors, Bevacizumab, Receptors, Vascular Endothelial Growth Factor

A 53-year-old lady presented with inferior retinal detachment (RD) following focal laser for retinal artery macroaneurysm (RAM). She underwent focal laser with intravitreal gas injection elsewhere; however, no retinal break was localized on the examination. The patient was taken up for vitreoretinal surgery. Intraoperatively, it was noted that the retinal detachment was not extending to the retinal periphery and primary retinal break was not localized even during the scleral depression. Under high magnification, using a macular lens, a slit-like retinal break was noted at the area of previous focal laser. Focal laser for RAM probably caused this retinal break leading to RD. The clinician needs to be aware that during focal laser of ruptured RAM, haemorrhage may preclude the view of retinal structures leading to inadvertent use of excessive laser energy. Retinal breaks may form at the site of laser due to coagulative necrosis. During surgical management of RD in such cases, the area of focal laser should be thoroughly examined under high magnification to avoid missed breaks.
Transorbital Craniocerebral Penetration by a Sharp Object with an Intact Globe
Authors: Abdullelah A Alamri, Ahmed R Algethami, Faisal Alghamdi
Journal: Case Rep Emerg Med (2018)
MeSH terms: Case Reports

Traumatic eye injuries are common in children and are mostly superficial. Vigilance must always be practiced when examining these children to avoid missing any hidden serious injuries that may result in devastating complications. We describe the acute and definitive management of a child treated 17 h after transorbital craniocerebral penetration by a sharp object. Despite the rarity of these types of injury, a good outcome can be achieved if they are promptly recognized and managed.
Xanthogranulomatous Cholecystitis Mimicking Carcinoma Gallbladder
Authors: Elisha Poddar, Prakash Mainali, Suraj Shrestha, Pratima Gautam, Anuradha Twayana, Niharika Pathak, Ashish Tiwari, Abhishek Bhattarai, Laligen Awale, Prasan Singh Kansakar
Journal: Case Reports Hepatol (2023)
MeSH terms: Case Reports

Xanthogranulomatous cholecystitis (XGC) is a rare benign chronic inflammatory disease of the gallbladder that often presents as cholecystitis and can mimic gallbladder carcinoma. Distinguishing XGC from gallbladder cancer preoperatively is challenging. We present a case of a 62-year-old male who presented with features of carcinoma gallbladder in the CECT abdomen and MRCP. Intraoperatively, there was a mass in the gallbladder and extension into the adjacent structures with involvement of the hepatic artery, 1st part of the duodenum, portal vein, and hepatic flexure of the colon, and thus a palliative cholecystectomy was done. The histopathological report came out as XCG. The case aims to outline the clinical presentation of XGC and differentiate it from carcinoma gallbladder.
A comparison between the therapeutic effects of Conbercept combined with panretinal photocoagulation and panretinal photocoagulation monotherapy for high-risk proliferative diabetic retinopathy
Authors: Yaoyao Sun, Huijun Qi
Journal: Front Endocrinol (Lausanne) (2023)
Keywords: conbercept, anti-vegf (vascular endothelial growth factor), high-risk pdr, neovascularization, panretinal photocoagulation
MeSH terms: Diabetes Mellitus / drug therapy, Diabetic Retinopathy / drug therapy, Diabetic Retinopathy / surgery, Angiogenesis Inhibitors / therapeutic use, Humans, Laser Coagulation, Neovascularization, Pathologic / drug therapy, Retrospective Studies, KH902 fusion protein, Angiogenesis Inhibitors

Objective:
To compare the therapeutic effects of the administration of intravitreal Conbercept (IVC) plus panretinal photocoagulation (PRP) to that of PRP monotherapy in patients with high-risk proliferative diabetic retinopathy (PDR).
Methods:
In this retrospective consecutive case series, we analyzed the data on high-risk PDR patients followed up for 12 months. Patients were divided into two groups: the IVC+PRP group and the PRP monotherapy group. Patients in the IVC+PRP group were initially administered 3 IVC injections and PRP, while patients in the PRP monotherapy group received PRP only. Depending on the grouping criteria, patients in both groups were administered either IVC+PRP or PRP only if the neovascularization (NV) did not regress. From the initiation to month 12 of treatment, we recorded and compared the data on the NV regression rate, improvement in best-corrected visual acuity (BCVA), laser spots, changes in central macular thickness (CMT), complications, and the need for vitrectomy for all patients.
Results:
In this study, 79 eyes of 58 patients in the IVC+PRP group and 86 eyes of 60 patients in the PRP monotherapy group were included. During the follow-up of 12 months, the number of eyes with complete regression, partial regression, and no regression or increase in NV were 56 (70.88%), 23 (29.12%), and 0 (0%) in the IVC+PRP group and 13 (15.12%), 50 (58.14%), and 23 (26.74%) in the PRP group (p < 0.001). The BCVA was significantly higher and CMT was lower in the patients of the IVC+PRP group than in the PRP monotherapy group at 3, 6, and 12 months of follow-up (p < 0.05). The mean number of laser spots was lower in the patients of the IVC+PRP group than in the PRP group (1,453 ± 87 spots vs. 2,267 ± 94 spots, p < 0.05). A significantly lower percentage of patients in the IVC+PRP group underwent vitrectomy than that in the PRP group (7 (8.86%) vs. 27 (31.40%), p < 0.001).
Conclusion:
High-risk PDR patients treated with IVC + PRP showed a higher rate of NV regression, more effective improvement in the BCVA, and lower vitrectomy rate compared to those who were administered PRP monotherapy.
The Wide and Unpredictable Scope of Synthetic Cannabinoids Toxicity
Authors: Jose Orsini, Christa Blaak, Eric Tam, Salil Rajayer, Joaquin Morante, Angela Yeh, Ashvin Butala
Journal: Case Rep Crit Care (2015)

Drug use and abuse continue to be a large public health concern worldwide. Over the past decade, novel or atypical drugs have emerged and become increasingly popular. In the recent past, compounds similar to tetrahydrocannabinoid (THC), the active ingredient of marijuana, have been synthetically produced and offered commercially as legal substances. Since the initial communications of their abuse in 2008, few case reports have been published illustrating the misuse of these substances with signs and symptoms of intoxication. Even though synthetic cannabinoids have been restricted, they are still readily available across USA and their use has been dramatically increasing, with a concomitant increment in reports to poison control centers and emergency department (ED) visits. We describe a case of acute hypoxemic/hypercapnic respiratory failure as a consequence of acute congestive heart failure (CHF) developed from myocardial stunning resulting from a non-ST-segment elevation myocardial infarction (MI) following the consumption of synthetic cannabinoids.
Atraumatic Deltoid Rupture with a Chronic Massive Rotator Cuff Tear: A Case Report and Surgical Technique
Authors: Matthew G Alben, Neil Gambhir, Michael A Boin, Mandeep S Virk, Young W Kwon
Journal: Case Rep Orthop (2022)
MeSH terms: Case Reports

Case:
We report a rare case of a spontaneous, atraumatic rupture of the anterior and middle heads of the deltoid with an underlying massive rotator cuff tear. Unique clinical findings included a palpable mass of torn deltoid distally with a proximal tissue defect. Magnetic resonance imaging of the deltoid demonstrated complete tear of the anterior head; involvement of the middle head was found intraoperatively. Given the acute nature of injury and potential impact on the feasibility of future reverse shoulder arthroplasty, surgical repair of the torn deltoid was discussed with the patient and performed via superior approach.
Conclusion:
Direct surgical repair is a viable treatment option if diagnosed early.
Case report: Aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newborn
Authors: Faisal Rashed AlMatrafi, Ahmad Ayed Al-Shammari, Raed Mohamed Al Nefily, Rawan Abdulrahman AlAnazi, Abdulrahman Hamed Abdulwahab, Ahmed Sabry Ammar
Journal: Front Pediatr (2023)
Keywords: aplasia cutis congenita (acc), bone defect, exposed sagittal sinus, patau syndrome, trisomy 13 syndrome
MeSH terms: Case Reports

Aplasia cutis congenita (ACC) is a heterogeneous disorder with a rarely reported incidence of 0.5-1 in 10,000 births. ACC can be associated with physical defects or syndromes that may help in the diagnosis, prognosis, and further evaluation of the patient. Trisomy 13 is one of the most common fetal life-limiting diagnoses associated with ACC of membranous-type scalp. The patient was born at 35 weeks of gestation via a cesarean section due to fetal distress. Upon admission to our hospital, her pertinent physical examination revealed a newborn girl with dysmorphic facial features, including widely separated eyes, downward slanting of the palpebral fissure, microphthalmia, retrognathia, and low-set ears. She had an area of loss of scalp skin and skull bone with seen brain tissue and an exposed sagittal sinus that was 6 by 5 cm in size. She had a clenched fist, overlapping fingers, and rocker bottom feet. Precordium auscultation revealed medium-pitched high-grade continuous murmur heard best at the pulmonary position with a harsh machinelike quality that often radiated to the left clavicle. Laboratory investigations include basic labs, and the TORCH screen was negative. On the 9th day of life, a chromosomal analysis showed a female karyotype with three copies of chromosome number 13 (trisomy 13) in all 20 metaphase cell counts. The patient was managed with a moist gauze dressing, topical antibiotic ointment, and povidone-iodine. However, a multidisciplinary team agreed on a do-not-resuscitate (DNR) order with no further surgical intervention as the survival rate of trisomy 13 is poor. In this article, we report a case of aplasia cutis congenita of the scalp with dura and bone defect and an exposed sagittal sinus in a newborn diagnosed with trisomy 13. It emphasizes the importance of ACC-associated syndrome, which has high mortality prior to surgical intervention.