OpenMed/multicare-articles huggingface dataset:
Neuropsychological Features of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series
Authors: Elise Riquin, Magalie Barth, Thomas Le Nerzé, Natwin Pasquini, Clement Prouteau, Estelle Colin, Patrizia Amati Bonneau, Vincent Procaccio, Patrick Van Bogaert, Philippe Duverger, Dominique Bonneau, Arnaud Roy
Journal: Front Psychiatry (2022)
Keywords: adolescent, child, executive function, intelligence, mitochondrial disorders, neuropsychological profile

Background:
Mitochondrial disorders (MD) are metabolic diseases related to genetic mutations in mitochondrial DNA and nuclear DNA that cause dysfunction of the mitochondrial respiratory chain. Cognitive impairment and psychiatric symptoms are frequently associated with MD in the adult population. The aim of this study is to describe the neuropsychological profile in children and adolescents with MD.
Methods:
We prospectively recruited a sample of 12 children and adolescents between February 2019 and February 2020 in the Reference Center for Mitochondrial Disorders of Angers (France). Participants and their parents completed an anamnestic form describing socio-demographic data and completed the WISC-V (Wechsler Intelligence Scale for Children, 5th edition) and the Parent and Teacher forms of the BRIEF (Behavior Rating Inventory of Executive Function).
Results:
In our sample, the mean IQ (Intellectual Quotient) score was 87.3 ± 25.3. The score ranged from 52 to 120. Concerning executive functions, a significant global clinical complaint was found for parents (six times more than normal) and to a lesser extent, for teachers (among 3 to 4 times more). Levels of intelligence and executive functioning were globally linked in our cohort but dissociation remains a possibility.
Conclusion:
The results of this study show that MD can be associated to neuropsychological disorders in children and adolescents, especially regarding the intelligence quotient and the executive function. Our study also highlights the need for regular neuropsychological assessments in individuals with MD and developing brains, such as children and adolescents.
Multiple Salivary Cortisol Measurements Are a Useful Tool to Optimize Metyrapone Treatment in Patients with Cushing's Syndromes Treatment: Case Presentations
Authors: Kenichi Yoshida, Hidenori Fukuoka, Yukiko Odake, Shinsuke Nakajima, Mariko Tachibana, Jun Ito, Yusei Hosokawa, Tomoko Yamada, Hiroshi Miura, Natsu Suematsu, Ryusaku Matsumoto, Hironori Bando, Kentaro Suda, Hitoshi Nishizawa, Genzo Iguchi, Wataru Ogawa, Yutaka Takahashi
Journal: Front Endocrinol (Lausanne) (2018)
Keywords: cushing’s syndrome, diurnal rhythm, metyrapone, monitoring marker, salivary cortisol

Measuring salivary cortisol is both convenient and non-invasive for patients; however, its usefulness as a marker for monitoring medical therapy has not yet been established. The aim of this study was to assess the utility of multiple salivary cortisol measurements in patients with Cushing's syndrome (CS) during medical therapy. Six patients with CS (three with cortisol-secreting adrenocortical adenoma and three with ACTH-secreting pituitary adenoma) were recruited. Samples for morning serum cortisol, urinary free cortisol (UFC), and multiple salivary cortisol levels were collected before and during metyrapone treatment. The area under the curve (AUC) and mean value (MV) of daily salivary cortisol levels were calculated. In five out of six patients, UFC were normalized; however, multiple salivary cortisol measurements revealed an impaired diurnal cortisol rhythm in these patients. To verify the usefulness of multiple salivary cortisol measurements, we performed a prospective case study of a patient in whom the excess secretion of cortisol was not controlled (UFC 211 μg/day) with 2,250 mg/day in four divided doses of metyrapone. Multiple measurements of salivary cortisol revealed that cortisol levels elevated before the next administration. Accordingly, we shortened the interval by increasing the number of administration from four to five times per day, with a slight increment of daily dose of 2,500 mg. These optimizations resulted in a drastic improvement of diurnal pattern as well as UFC level (101 μg/day). Changes in both the MV and AUC of salivary cortisol levels were more correlated with those in UFC levels (Correlation coefficient 0.75, p = 0.007, and 0.70, p = 0.017) than those in the morning serum cortisol levels (0.42, p = 0.200), indicating that multiple salivary cortisol measurements reflect more precisely the excess secretion of cortisol. Our preliminary data suggest that multiple salivary cortisol measurements can be a useful tool to visualize the diurnal cortisol rhythm and to determine the dose and timing of metyrapone during the treatment in patients with CS.
Fibrillary Glomerulopathy with a High Level of Myeloperoxidase-ANCA: A Case Report
Authors: Tomohiko Asakawa, Mea Asou, Shigeo Hara, Takashi Ehara, Makoto Araki
Journal: Case Rep Nephrol (2020)
MeSH terms: Case Reports

An elderly woman was admitted with the chief complaint of gross hematuria. Laboratory values indicated a high myeloperoxidase-ANCA level. In renal histological examination, 40% of the glomeruli showed crescent formation, but immunofluorescence staining showed positivity for IgG, C3, and C1q. Furthermore, the deposition of fibrils in the glomerulus was noted on electron microscopy, and immunohistochemical staining showed strong positivity for DNA-J heat shock protein family member B9 (DNAJB9). Crescent formation is a common feature of fibrillary glomerulonephritis (FGN). Thus, in ANCA-positive crescentic glomerulonephritis, immunohistochemical assessments for immunoglobulins and DNAJB9, as well as electron microscopy, are important to correctly diagnose FGN.
From Spot Sign to Bleeding on the Spot: Classic and Original Signs of Expanding Primary Spontaneous Intracerebral Hematoma
Authors: Ali Kanj, Abir Ayoub, Malak Aljoubaie, Ahmad Kanj, Assaad Mohanna, Feras Chehade, Georges Rouhana
Journal: Case Rep Radiol (2021)
MeSH terms: Case Reports

Expansion of a primary spontaneous intracranial hemorrhage (PSICH) has become lately of increasing interest, especially after the emergence of its early predictors. However, these signs lacked sensitivity and specificity. The flood phenomenon, defined as a drastic increase in the size of a PSICH during the same magnetic resonance study, was first described in this paper based on the data of a university medical center in Lebanon. Moreover, further review of this data resulted in 205 studies with presumed diagnosis of primary spontaneous intracranial hemorrhage within the last 10 years, of which 29 exams showed typical predictors of hematoma expansion on computed tomography. The intended benefit of this observation is to draw the radiologists' attention towards minimal variations in the volume of the hematoma between the two extreme sequences of the same MRI study, in order to detect inconspicuous flood phenomena-a direct sign of hematoma expansion.
A Rare Cause of Thrombotic Thrombocytopenia Purpura- (TTP-) Like Syndrome, Vitamin B12 Deficiency: Interpretation of Significant Pathological Findings
Authors: Morgan Bailey, Travis Maestas, Robert Betancourt, Dalia Mikhael, Hani M Babiker
Journal: Case Rep Hematol (2019)
MeSH terms: Case Reports

Thrombotic thrombocytopenia purpura (TTP) is a hematological emergency that requires rapid assessment followed by prompt initiation of therapy due to high mortality associated with delayed treatment. TTP has many causes including heritable syndromes, ADAMTS13 deficiency, and drugs-related etiologies. Profound vitamin B12 deficiency can, in rare cases, mimic TTP in presentation, and since plasmapheresis can be of limited benefit, prompt diagnosis is necessary for accurate treatment with B12. Therefore, careful analysis of all clinical signs, symptoms, and labs must be assessed. We report a patient who presented with a diagnosis of TTP, and repeat assessment confirmed a diagnosis of sever vitamin B12 (B12) deficiency with pancytopenia who was appropriately treated with B12.
Atypical microbial infections of digestive tract may contribute to diarrhea in mucopolysaccharidosis patients: a MPS I case study
Authors: Grzegorz Wegrzyn, Julianna Kurlenda, Anna Liberek, Anna Tylki-Szymanska, Barbara Czartoryska, Ewa Piotrowska, Joanna Jakóbkiewicz-Banecka, Alicja Wegrzyn
Journal: BMC Pediatr (2005)
MeSH terms: Adenoviridae Infections / complications, Bacterial Infections / complications, Diarrhea / microbiology, Mucopolysaccharidosis I / complications, Case Reports, Research Support, Non-U.S. Gov't, Anti-Bacterial Agents / therapeutic use, Bacterial Infections / diagnosis, Child, Preschool, Diarrhea / drug therapy, Escherichia coli / isolation & purification, Female, Humans, Pseudomonas aeruginosa / isolation & purification, Anti-Bacterial Agents

Background:
Mucopolysaccharidoses are heritable, metabolic diseases caused by deficiency in an activity of one of specific lysosomal enzymes involved in degradation of mucoplysaccharides (glycosaminoglycans). Among many medical problems of patients with mucopolysaccharidoses, there are frequent episodes of diarrhea of unknown etiology.
Case presentation:
A girl, diagnosed enzymatically for mucopolysaccharidosis type I (deficiency of alpha-L-iduronidase) at the age of 3 years and 9 months, was investigated until the age of 5 years and 4 months. Frequent loose stools and episodes of diarrhea, often accompanied by vomiting, were encountered. Detailed microbiological analyses were performed and atypical microbial infections (most often enetropathogenic Escherichia coli, but also other species, like Pseudomonas aeruginosa or Staphylococcus aureus, as well as adenoviruses) of the digestive tract were found in most severe diarrhea episodes. Often, isolations of pathogenic bacterial strains from stools of the investigated patient suffering from diarrhea were not obvious during the first screening, and only detailed microbiological studies, including re-isolation of colonies, gave the results of isolation of particular pathogenic strains (especially in the case of enetropathogenic E. coli).
Conclusion:
We conclude that atypical microbial infections of digestive tract may contribute significantly to diarrhea in mucopolysaccaridosis patients. Since isolated strains were not typical and their isolation was often possible only after detailed investigation (not during a standard screening), such atypical microbial infections of digestive tract of mucopolysaccharidosis patients could be usually overlooked to date. Importantly, these atypical infections could be effectively treated with antimicrobial agents.
Real-time Point-of-care Ultrasound for the Diagnosis and Treatment of Testicular Torsion
Authors: Rahul V Nene, Rachna Subramony, Michael Macias, Colleen Campbell, Amir Aminlari
Journal: POCUS J (2021)
Keywords: acute scrotal pain, emergency medicine, point-of-care ultrasound, testicular torsion
MeSH terms: Case Reports

Background: Testicular torsion is a surgical emergency that needs prompt diagnosis and treatment. Point-of-Care ultrasound (POCUS) can not only establish the diagnosis but also guide the Emergency Physician in evaluating the response to manual detorsion. Case Report: We describe the case of a 13-year-old male who presented with acute scrotal pain. We demonstrate how bedside ultrasound was used to make the diagnosis of testicular torsion, guide the technique for manual detorsion, and confirm adequate return of blood flow. Our case illustrates the ease with which POCUS can be used in real time to diagnose and treat organ-threatening pathology, but more importantly, it shows how real-time POCUS was used to detorse a testicle that was refractory to the standard detorsion technique. Conclusion: The acute scrotum is a time-sensitive presentation and if testicular torsion is present, the diagnosis should be made as soon as possible. Many Emergency Departments do not have 24-hour coverage of ultrasound technicians, which would delay the diagnosis and treatment. Moreover, when manual detorsion is attempted, it often does not work because the testicle may need more than the standard 180 degree medial to lateral rotation. POCUS provides real-time analysis of return of blood flow and can thus guide further rotation, or opposite direction rotation, as needed.
Metastatic prostate cancer mimicking a rectal cancer: a case report
Authors: Alfredo V Chua Jr, Alvin Christopher S Chu, Ashraf A Tawasil, Michael D San Juan
Journal: Ecancermedicalscience (2021)
Keywords: case report, prostatic neoplasms, rectal neoplasms
MeSH terms: Case Reports

The most common presenting symptoms of prostate cancer, a common cancer in males worldwide, are lower urinary tract symptoms. In rare cases, however, urinary symptoms may not be apparent, and patients can present with gastrointestinal symptoms instead. Even rarer is the involvement of non-regional lymph nodes such as the cervical nodes. Here, we report a case of a 50-year-old male who initially presented with constipation and an enlarging left lateral neck mass. Further work-up revealed metastatic prostatic adenocarcinoma and the patient dramatically responded to chemotherapy, androgen deprivation therapy and bone support therapy. This case highlights the importance of considering a prostate malignancy in a male patient presenting with gastrointestinal symptoms and a neck mass even in the absence of lower urinary tract symptoms. Serum prostate specific antigen, pathologic findings and immunohistochemistry staining are important to guide the clinician in making the correct diagnosis and treatment.
Perineal and pelvic aggressive angiomyxoma: spontaneous regression after hormonal replacement therapy withdrawal assessed by 3T magnetic resonance
Authors: R Argiró, B Sacconi, A Iannarelli, P Collini, M Bezzi
Journal: BJR Case Rep (2015)
MeSH terms: Case Reports

Aggressive angiomyxoma (AA) is a rare mesenchymal tumour which mainly arises in the soft tissue of the pelvis and perineum in women of reproductive age. AA usually shows an aggressive behaviour, with a high rate of incomplete surgical excision and post-surgical recurrence. Most cases of AA exhibit oestrogen and/or progesterone receptors; in these cases, maintenance of a hypo-oestrogenic state can be helpful in the medical management of this tumour. We describe a case of spontaneous reduction in size of an AA during a 6-month period of hormonal replacement therapy withdrawal, assessed by MRI using a 3T magnet.
Perioperative Management of Patient with Esophageal Carcinoma and Crigler-Najjar Syndrome Type 2: A Case Report
Authors: Dehua Ma, Fang Chen, Xiaoyun Chen, Yu Chen
Journal: Front Surg (2022)
Keywords: crigler-najjar syndrome type 2, esophageal carcinoma, case report, esophageal squamous cell carcinoma, perioperative management, surgery
MeSH terms: Case Reports

Background:
Crigler-Najjar syndrome type 2 (CNS-II) is a rare genetic disease that is associated with a lack of uridine diphosphate-glucuronosyltransferase. Esophageal carcinoma is the sixth most common cause of cancer-related death worldwide, for which surgery is the most effective treatment. Reports on patients with both conditions requiring surgery are limited and The impact of hyperbilirubinemia caused by CNS-II on the perioperative period is unknown. Previous studies have found that patients with Crigler-Najjar syndrome have an increased risk of gallstones and related complications, which also poses corresponding challenges to the treatment. Herein, we present a patient with CNS-II who underwent successful thoracoscopic surgery for esophageal carcinoma.
Case summary:
A 65-year-old male presented to our hospital with a choking sensation after eating. A physical examination showed yellowing of the sclera and skin. The patient manifested persistent jaundice since birth and had visited many hospitals, but the cause remained undiagnosed. We performed genetic testing, which confirmed CNS-II. Gastroscopy indicated esophageal carcinoma. A multidisciplinary team discussion was carried out to determine the appropriate treatment and perioperative management for this patient. The results show that surgical resection was the most appropriate approach. Finally, the patient underwent thoracoscopic surgery for esophageal carcinoma without complications.
Conclusion:
Esophageal carcinoma in patients with Crigler-Najjar syndrome is a rare case, and perioperative management is key in the treatment process. It is necessary to pay close attention to the changes of the disease to prevent complications.
Urinary Obstruction of Transplanted Kidney Caused by Uterine Adenomyosis and 2-Year Posthysterectomy Psoas Abscess in Conjunction with Transplanted Kidney
Authors: Yuta Takezawa, Yoshifumi Kadono, Takahiro Nohara, Atsushi Mizokami
Journal: Case Rep Transplant (2016)
MeSH terms: Case Reports

Urinary obstruction of the transplanted kidney caused by uterine leiomyoma is an extremely rare condition. To the best of our knowledge, there are only two reports in English literature. Psoas abscess secondary to renal graft pyelonephritis is also uncommon. We present this unusual case and its treatment course. A 43-year-old female presented with renal dysfunction. She was started on peritoneal dialysis from the age of 26 years and received kidney transplantation from her mother (living donor) at the age of 27 years. Computed tomography (CT) revealed right hydronephrosis and a large uterine mass compressing the distal ureter of the transplanted kidney. After a simple total hysterectomy, her renal function improved. Two years following the hysterectomy, she experienced painful urination, fever, right abdominal pain, and right lower limb pain. CT and T2-weighed magnetic resonance imaging of her pelvis demonstrated right psoas abscess in conjunction with transplanted kidney. She was treated with broad-spectrum antibiotics alone, which resulted in a good response. Urinary obstruction of the transplanted kidney caused by uterine leiomyoma is an extremely rare condition. Psoas abscess secondary to transplanted kidney pyelonephritis is also rare. We should keep these rare diseases in mind when treating such cases.
Local recurrence of breast cancer 52 years after halsted mastectomy: is there a role for more aggressive ipsilateral surveillance?
Authors: Shailesh Agarwal, Edward W Nelson, Jayant P Agarwal
Journal: Case Rep Oncol Med (2011)
MeSH terms: Case Reports

We present the longest reported case of breast cancer recurrence, 52 years after initial diagnosis, in a patient initially treated with Halsted mastectomy. Observation and palpation of the chest wall resulted in late presentation, and this patient went on to demonstrate metastatic disease. Current surveillance guidelines lack specific recommendations regarding monitoring of the ipsilateral chest wall. In addition, the growing utilization of breast reconstruction poses an additional challenge to surveillance strategies of the ipsilateral breast. However, the emergence of MRI may present a new opportunity to identify ipsilateral recurrence. The changing landscape of breast cancer therapy warrants guidance from groups of national import such as ASCO, in the surveillance of breast cancer patients.
Autoimmune progesterone dermatitis in a patient with endometriosis: case report and review of the literature
Authors: Alan P Baptist, James L Baldwin
Journal: Clin Mol Allergy (2004)

Autoimmune progesterone dermatitis (APD) is a condition in which the menstrual cycle is associated with a number of skin findings such as urticaria, eczema, angioedema, and others. In affected women, it occurs 3-10 days prior to the onset of menstrual flow, and resolves 2 days into menses. Women with irregular menses may not have this clear correlation, and therefore may be missed. We present a case of APD in a woman with irregular menses and urticaria/angioedema for over 20 years, who had not been diagnosed or correctly treated due to the variable timing of skin manifestations and menses. In addition, we review the medical literature in regards to clinical features, pathogenesis, diagnosis, and treatment options.
Resolution of Right Hemidiaphragm Paralysis following Cervical Foraminotomies
Authors: Neal Singleton, Matthew Bowman, David Bartle
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Introduction:
Hemidiaphragm paralysis secondary to phrenic nerve palsy is a well-recognised medical condition. There are few case reports in the literature documenting resolution of hemidiaphragm paralysis following cervical spine surgery. This case report documents our experience with one such case.
Case presentation:
A 64-year-old man was referred to the orthopaedic service with right hemidiaphragm paralysis. He had a previous history of asbestos exposure and polio and was initially seen and investigated by the respiratory physicians. He also reported intermittent neck pain and an MRI scan showed right-sided cervical foraminal stenosis. He underwent posterior right C3/4 and C4/5 foraminotomies, and by three months postoperatively, his hemidiaphragm paralysis had resolved and his shortness of breath had also improved.
Conclusion:
This report documents a unique case of resolution of hemidiaphragm paralysis following posterior unilateral cervical foraminotomies.
Partial disconnection procedure in a patient with bilateral lesions (case report)
Authors: Alexey Y Stepanenko, Natalia A Arkhipova, Igor N Pronin, Lyudmila V Shishkina, Anna V Lebedeva, Alla B Guekht
Journal: Epilepsy Behav Case Rep (2013)
Keywords: cortical dysplasia, epilepsy surgery, nodular heterotopias, partial disconnection procedure

Purpose:
The method of temporal lobectomy and parietooccipital disconnection has been applied in the treatment of patients with monolateral widespread cortical lesions and with hand motor function intact. There are no data regarding the use of this method in the treatment of patients with bilateral lesions.
Case report:
A case history of a 15-year-old female patient with medically refractory epilepsy is presented. Magnetic resonance imaging revealed bilateral periventricular nodular heterotopia associated with cortical dysplasia (CD) in the right temporo-parietal region. The left hemisphere had no signs of CD. Invasive monitoring revealed rhythmic theta-delta activity during the interictal period and fast activity during the ictal onset in the right temporal and parietal regions. The surgery procedure consisted of anterior temporal lobectomy, the removal of the right heterotopy nodus, the dissection of the posterior part of the corpus callosum, and the detachment of the temporo-parieto-occipital complex by dissection behind the sensorimotor cortex. Histological examination of the cortex revealed CD type I. The patient has been seizure-free for 4 years after surgery.
Conclusion:
Partial disconnection procedures may be effective in cases where total hemispherotomy is not indicated in patients with bilateral lesions and a well-lateralized epileptogenic zone localized in the temporo-parieto-occipital region.
Syphilis-Associated Proteinuria and Hepatitis in the Setting of Human Immunodeficiency Virus (HIV) Co-Infection
Authors: Hanish Jain, Garima Singh, Elizabeth Asiago-Reddy
Journal: Case Rep Infect Dis (2022)
MeSH terms: Case Reports

Syphilis has long been known as "the great imitator", mimicking a wide variety of diseases, and often its diagnosis is delayed or missed. It remains an important public health issue that continues to occur at high rates among patients with HIV. We report a case of a 52-year-old man who presented with a constellation of unusual symptoms highlighting that syphilis should be included in the differential diagnosis in patients with HIV presenting with abnormal liver enzymes, rash, proteinuria, conjunctivitis, and/or sexual risk factors.