OpenMed/multicare-articles huggingface dataset:
Genetic identification of endoscopic biopsies after unnecessary gastrectomy: Case report and medico-legal evaluation
Authors: Matteo Sanavio, Eugenia Carnevali, Simona Severini, Federica Tommolini, Luciana Caenazzo, Pamela Tozzo
Journal: Int J Surg Case Rep (2019)
Keywords: case report, colorectal cancer, forensic genetics, gastrectomy, medical liability

Introduction:
Forensic genetic laboratories analyse samples included in paraffin to verify the genetic correspondence of histological samples, from living subjects or cadavers, in cases where there is a suspicion of contamination of samples with tissues of other patients.
Presentation of the case:
A case of a man subjected to a gastrectomy as a result of a histological diagnosis of gastric adenocarcinoma after endoscopic biopsies is reported. The microscopic analysis on the gastric tissue after the gastrectomy excluded the presence of cancer. Having suspected a diagnostic error, a microscopic revision of the biopsies was performed and confirmed the presence of cancer cells but led to a hypothesis that there had been contamination with foreign intestinal tissue. The genetic analysis performed on various pieces of tissue, despite the reduced amount of biological material, succeeded in identifying the presence of two incomplete genetic profiles, one of which belonged to a subject of the opposite sex.
Discussion:
The case raised many questions about the process of setting up histological specimens. Even though it is impossible to identify the healthcare professionals responsible for contamination, the organizational error during the management of biopsies has significantly affected the clinical case of the patient, who underwent a gastrectomy for cancer that was not present.
Conclusion:
This case is not simply an example of diagnostic error and related unnecessary surgery, but it has raised some doubts about patient management and it has led us to some medical-legal cause for reflection in the field of professional liability.
A multistep approach to manage Fournier's gangrene in a patient with unknown type II diabetes: surgery, hyperbaric oxygen, and vacuum-assisted closure therapy: a case report
Authors: Antonio Luigi Pastore, Giovanni Palleschi, Andrea Ripoli, Luigi Silvestri, Antonino Leto, Domenico Autieri, Cristina Maggioni, Davide Moschese, Vincenzo Petrozza, Antonio Carbone
Journal: J Med Case Rep (2013)

Introduction:
Fournier's gangrene is an infectious necrotizing fasciitis of the perineum and genital regions and has a high mortality rate. It is a synergistic infection caused by a mixture of aerobic and anaerobic organisms and predisposing factors, including diabetes mellitus, alcoholism, malnutrition, and low socioeconomic status. We report a case of Fournier's gangrene in a patient with unknown type II diabetes submitted to 24-hour catheterization 15 days before gangrene onset.
Case presentation:
The patient, a 60-year-old Caucasian man, presented with a swollen, edematous, emphysematous scrotum with a crepitant skin and a small circle of necrosis. A lack of resistance along the dartos fascia of the scrotum and Scarpa's lower abdominal wall fascia combined with the presence of gas and pus during the first surgical debridement also supported the diagnosis of Fournier's gangrene. On the basis of the microbiological culture, the patient was given multiple antibiotic therapy, combined hypoglycemic treatment, hyperbaric oxygen therapy, and several surgical debridements. After five days the infection was not completely controlled and a vacuum-assisted closure device therapy was started.
Conclusions:
This report describes the successful multistep approach of an immediate surgical debridement combined with hyperbaric oxygen and negative pressure wound therapy. The vacuum-assisted closure is a well-known method used to treat complex wounds. In this case study, vacuum-assisted closure treatment was effective and the patient did not require reconstructive surgery. Our report shows that bladder catheterization, a minimally invasive maneuver, may also cause severe infective consequences in high-risk patients, such as patients with diabetes.
Self-controllable prodromal symptoms of syncope attributed to carotid sinus syndrome during the end stage of cancer: a case report
Authors: Hideaki Hasuo, Kenji Kanbara, Hiroko Sakuma, Rie Matsumori, Mikihiko Fukunaga
Journal: Biopsychosoc Med (2016)
Keywords: carotid sinus syndrome, coping, end stage of cancer, prodromal symptoms of syncope, self-control
MeSH terms: Case Reports

Background:
Carotid sinus syndrome (CSS) can cause prodromal symptoms of syncope such as dizziness and nausea. Patients with end-stage cancer lose self-efficacy associated with reduced activities of daily life (ADL). Herein, we report a case of end-stage cancer in which self-efficacy was enhanced as the patient gained self-control of prodromal symptoms of syncope.
Case presentation:
A 70-year-old patient with end-stage esophageal cancer and enlarged supraclavicular lymph nodes developed CSS. The CSS was a mixed type with both bradycardia and decreased blood pressure, accompanied by prodromal symptoms prior to syncope episodes. The patient incidentally discovered that he could decrease the duration of symptoms by contracting the muscles in his hands and legs. By applying this coping method at the onset of prodromal symptoms, he was also able to reduce the severity and duration of symptoms, which resulted in enhanced self-efficacy. As a result, the frequency of prodromal symptoms also decreased even though ADL improved.
Conclusion:
This patient was diagnosed with vasoinhibitory-predominant mixed-type CSS. The coping method the patient developed seemed to avoid the onset of abrupt blood pressure decrease via peripheral vascular constriction action. Achievement of adequate coping such as self-control of prodromal symptoms enabled our patient to improve his self-efficacy even at the end stages of cancer. This case of enhanced self-efficacy could possibly illustrate a placebo effect for prevention of recurrence.
A case of severe flail chest with several dislocated sterno-chondral fractures
Authors: Ali Imad El-Akkawi, Frank Vincenzo de Paoli, Gratien Andersen, Anette Højsgaard, Thomas Decker Christensen
Journal: Int J Surg Case Rep (2019)
Keywords: cartilage reconstruction, case report, chest stabilization, flail chest, plate fixation, trauma

Introduction:
Flail chest is diagnosed clinically by the presence of paradox movement of a segment of the thoracic wall during spontaneous breathing. Radiographic finding confirming a clinical flail chest are fractures of three or more consecutive ribs or costal cartilages in two or more places. Surgical stabilization is associated with a reduced length of hospital stay, time with mechanical ventilation and risk of respiratory complications.
Presentation of case:
A trauma patient had a Computed Tomography (CT) scan showing multiple costa fractures, sternal fracture, manubrium fracture, sternal displacement and dehiscence of the sternal-costal attachment. The severity of the trauma was visualized after performing a cartilage reconstruction of the trauma CT scan. The patient underwent surgery, using fixation plates to stabilize the thoracic cage, and was then weaned quickly from mechanical ventilation.
Discussion:
This case indicates, that if a patient has a severe flail chest recognized clinically, but not radiologically, a reconstruction of cartilage can reveal the true severity of the trauma. Indeed, the patient in this case experienced a positive outcome from surgery. However, such a procedure demands correct timing and experience in surgical stabilization of the thoracic wall. Furthermore, the injury required accurate planning with the involved personal before surgery.
Conclusion:
Surgical stabilization of advanced flail chest with concomitant sternal fracture, seems to be a safe procedure, that might reduce the need of mechanical ventilation and the length of stay at the Intensive Care Unit (ICU). Furthermore, cartilage reconstruction of the trauma CT scan can potentially identify a severe flail chest, that might be missed on regular 3D bone reconstruction.
Cholestasis and seizure due to lead toxicity: a case report
Authors: Ali Mokhtarifar, Hooman Mozaffari, Reza Afshari, Ladan Goshayeshi, Kambiz Akavan Rezayat, Kamran Ghaffarzadegan, Mohammadreza Sheikhian, Farnood Rajabzadeh
Journal: Hepat Mon (2013)
Keywords: cholestasis, lead, opium
MeSH terms: Case Reports

Introduction:
Lead poisoning is a major public health risk which may involve major organs. Recently, there have been reports of opioid adulteration with lead in Iran. The following case report is the first of its kind in that intrahepatic cholestasis due to lead toxicity has been described.
Case presentation:
A 65-year-old man presented to the emergency department with abdominal pain, abnormal liver function tests (cholestatic pattern), and normocytic anemia. He had been an opium user for 20 years. Clinical and preclinical findings including the bluish discoloration of periodontal tissues, or Burton's sign, and generalized ileus on abdominal x-ray led us to the possibility of lead poisoning. Lead levels were higher than normal (150 μg/dL). Magnetic resonance cholangiopancreatography (MRCP) and abdominal ultrasound were performed to rule out extra hepatic causes of cholestasis. To evaluate the possibility of lead-induced hepatotoxicity, a liver biopsy was performed. Histological features of lead-induced hepatotoxity have rarely been described in humans. In this patient, focal canalicular cholestasis and mild portal inflammation were confirmed. Thus, treatment with ethylenediaminetetraacetic acid (EDTA) and British anti-lewisite (BAL) were initiated and continued for five days. The patient's liver function tests returned to their normal values, clinical findings including nausea, vomiting, and abdominal pain subsided, and the patient was discharged from the hospital in good condition.
Conclusions:
Lead toxicity should always be taken into account in cases of intrahepatic cholestasis with an unknown etiology, especially in a setting where opium abuse is common.
From Eye Drops to ICU, a Case Report of Three Side Effects of Ophthalmic Timolol Maleate in the Same Patient
Authors: Muhammad Asim Rana, Ahmed Fouad Mady, Basheer Abdel Rehman, Abdulrahman Alharthy, Basim Huwait, Asim Riaz, Waleed Tharwat Aletreby
Journal: Case Rep Crit Care (2015)

Timolol Maleate (also called Timolol) is a nonselective beta-adrenergic blocker and a class II antiarrhythmic drug, which is used to treat intraocular hypertension. It has been reported to cause systemic side effects especially in elderly patients with other comorbidities. These side effects are due to systemic absorption of the drug and it is known that Timolol is measurable in the serum following ophthalmic use. Chances of life threatening side effects increase if these are coprescribed with other cardiodepressant drugs like calcium channel or systemic beta blockers. We report a case where an elderly patient was admitted with three side effects of Timolol and his condition required ICU admission with mechanical ventilation and temporary transvenous pacing. The case emphasizes the need of raising awareness among physicians of such medications about the potential side effects and drug interactions. A close liaison among patient's physicians is suggested.
Arrested Puberty in an Adolescent Male with Anorexia Nervosa Successfully Resumed with Multidisciplinary Care
Authors: Diana Simão Raimundo, Carolina Figueiredo, Ana Raposo, Bernardo Dias Pereira
Journal: Case Rep Pediatr (2021)
MeSH terms: Case Reports

The normal development of puberty depends on the specific pulsatility of gonadorelin, which is finely regulated by genetic and environmental factors. In the published literature, eating disorders figure as a cause of pubertal delay/arrest in females but are rarely considered in males with disordered puberty. A 16.7-year-old male was referred to the Department of Pediatrics with arrested puberty due to severe malnutrition in the context of food restriction. Past medical history was relevant for asthma. Generalized cachexia, facial lanugo hair, cutaneous xerosis, and Russell's sign were noted; he had a height of 155.5 cm (-2.5 SD; target height: 168 cm, -1.1 SD) and a BMI of 12.4 kg/m2 (-6.8 SD); left and right testicular volumes were 8 mL and 10 mL, respectively. He had a twin brother who had normal auxological/pubertal development (height: 167 cm, -1.05 SD; testicular volumes: 20 mL). Anorexia nervosa was diagnosed, and he was enrolled in a personalized treatment and surveillance program. "Nonthyroid illness" resembling secondary hypothyroidism was noted, as was low bone mineral density. Clinical and biochemical follow-up showed significant improvements in BMI (16.2 kg/m2, -2.55 SD), completion of puberty (testicular volumes: 25 mL), and reversion of main neuroendocrine abnormalities. Herein, we present an adolescent male with arrested puberty in the context of anorexia nervosa. The recognition of this rare condition in males allows a personalized approach to disordered puberty, with resumption of normal function of the hypothalamic-pituitary-gonadal axis and achievement of pubertal milestones.
Neurofeedback as neuroempowerment technique for affective regulation and interoceptive awareness in adolescence: preliminary considerations applied to a psychogenic pseudosyncope case
Authors: Michela Balconi, Laura Angioletti, Davide Crivelli
Journal: Front Rehabil Sci (2023)
Keywords: adolescence, affective regulation, biofeedback, neurocognitive enhancement, neurofeedback, neurorehabilitation, pseudosyncope

Revisions of classical models of acute stress response spectrum and defence cascade process might represent a valuable background for the interpretation of the link between affective reactions, traumatic experiences, and Psychogenic pseudosyncope (PPS) events in childhood and across the lifespan. Indeed, associations between subjective emotional life, early exposure to distressing and/or traumatic events, and PPS have fuelled a debate on potential causes of occurrence and recurrence of such a peculiar clinical manifestation. At the same time, such background suggests that empowering stress management and affective regulation skills could be the target for neurorehabilitation interventions aiming at reducing the severity of symptomatology and/or improving awareness and management of pseudosyncopal spells. Specifically, neuro/biofeedback-based empowerment of self-regulation skills, associated to an increased interoceptive increased awareness, could be a promising complement to classical psychological therapies. Starting from the presentation of a paediatric PPS clinical case, the present work discusses the relevance of assessing affective appraisal and autonomic reactivity in individuals suffering from PPS episodes and introduces a novel potential neuroempowerment protocol aimed at improving self-regulation and stress management skills in adolescence based on a combined neurofeedback and embodied-awareness intervention. By capitalizing available evidence of the effects of neuromodulation and embodied practices on self-awareness/regulation across the life-span, the proposed protocol is based on neurofeedback-supported affective management training, as well as both contemplative and informal awareness exercises devised to be appealing and challenging even for younger patients.
Clinical, Biochemical, Molecular, and Outcome Features of Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency in 10 Chinese Patients
Authors: Shengnan Wu, Linghua Shen, Qiong Chen, Chunxiu Gong, Yanling Yang, Haiyan Wei, Bingyan Cao, Yongxing Chen
Journal: Front Genet (2022)
Keywords: 3-hydroxy-3-methylglutaryl-coa synthase deficiency, hmgcs2 gene, hmgcs2d, hypoglycemia, ketogenesis

Background: Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMGCS2D) is a rare autosomal recessive metabolic disorder caused by mutations of the HMGCS2 gene. To date, no more than 60 patients have been reported throughout the world. Purpose: To analyze the clinical, biochemical, molecular, and outcome features of HMGCS2D in a case series of 10 new Chinese patients. Methods: This retrospective study includes 10 Chinese patients diagnosed with HMGCS2D. We collected and analyzed clinical data for all patients. We also reviewed clinical data for 39 cases that had been reported previously. Results: All of our patients had experienced their first metabolic crisis before 12 months old. The most common clinical manifestations were anorexia, dyspnea, and disturbance of consciousness (10/10), followed by vomiting (8/10), fever (7/10), cough (4/10), diarrhea, and seizures (3/10). Each patient (10/10) had a different degree of hepatomegaly and increased aminotransferase, severe metabolic acidosis, and hypofibrinogenemia. 9 patients presented with severe hypoglycemia and weak positives on qualitative tests of urinary ketone body. Patient 3 was the only one without hypoglycemia. Five patients had hypocalcemia, five patients had hyperammonemia, four patients had hyperuricemia, and three had hypertriglyceridemia. During the metabolic acidosis episode, we observed high dicarboxylic acid values in urine, and the elevated ratio of blood acetylcarnitine to free carnitine may have been an additional biochemical signature. However, all returned to normal during the interictal interval. Molecular analysis identified 15 variants in the HMGCS2 gene, of which 10 were novel (c.220G>A/p.E74K, c.407A>G/p.D136G, c.422T>A/p.V141D, c.719A>C/p.D240A, c.821G>A/p.R274H, c.39dupA/p.L14Tfs*59, c.1394delA/p.N465Tfs*10, c.788delT/p.L263Cfs*36, c.717T>G/p.Y239*, and c.1017-2A>G). Combining these with previous cases, the known mutation c.1201G>T/p.E401* has been found in 6/40 (15.0%) of mutated alleles in 21 Chinese patients from 20 families, while none have been found in other populations. We found that patients with biallelic truncation mutation appeared to show a more severe clinical condition through a literature review. Conclusion: This study analyzed the phenotypic and genetic features of HMGCS2D in a Chinese case series. We also expanded the HMGCS2 mutational spectrum with 10 novel variants. The c.1201G>T/p.E401* mutation was the most frequent, representing 15.0% of the mutated alleles in reported unrelated Chinese patients, and thus, it may be a hot spot mutation.
Intravitreal bevacizumab role in the treatment of macular edema secondary to retinal vasoproliferative tumor in a patient with neurofibromatosis type 1
Authors: Ramin Nourinia, Tahmineh Motevasseli, Zahra Tofighi
Journal: GMS Ophthalmol Cases (2016)
Keywords: intravitreal bevacizumab, macular edema, neurofibromatosis, vasoproliferative mass
MeSH terms: Case Reports

Objective: To report a case of neurofibromatosis-1 (NF-1) with retinal vasoproliferative tumor (RVPT) and macular edema and exudation that was successfully treated with intravitreal bevacizumab (IVB). Method: A retrospective case report of patient with neurofibromatosis, retinal vasoproliferative tumor and macular edema who received three monthly intravitreal injections of bevacizumab. Optical coherence tomography (OCT) and fluorescein angiography (FAG) before and three months after treatment were done. Results: Macular edema and exudation of the right eye was effectively resolved with IVB injection and vascularity of RVPT significantly decreased after treatment with IVB. Conclusion: Macular edema and exudation secondary to RVPT in patients with NF-1 could be successfully treated with IVB.
Infective endocarditis caused by Cardiobacterium valvarum
Authors: Yohei Washio, Shun-Ichiro Sakamoto, Ryoichi Saito, Takahito Nei, Masayo Morishima, Akihiro Shinoyama, Ayaka Tashiro, Ryoji Sugimoto
Journal: Access Microbiol (2019)
Keywords: cardiobacterium valvarum, hacke group, genotyping, infectious ecdocarditis
MeSH terms: Case Reports

We report a case with infective endocarditis (IE) due to Cardiobacterium valvarum . The patient was a 57-year-old male, who was referred to our hospital based on suspected IE detected by transthoracic echocardiography at a neighbourhood clinic. Three sets of blood cultures obtained on admission yielded positive results, and revealed rather slender and linear Gram-negative bacilli with a rosette formation that dyed minimally, with a pale white appearance. Although no isolates were identified by conventional methods, C. valvarum was ultimately identified by 16 S ribosomal RNA genotyping. HACEK group strains are difficult to identify by conventional methods. Therefore, if Gram-negative bacilli are isolated from IE patients, 16 S ribosomal RNA genotyping will be necessary. Furthermore, IE due to C. valvarum is very rare. We thus discuss our case in comparison with previous reports.
Right axillary lymph node metastasis of carcinoma of the cecum with histologically proven cutaneous lymphatic invasion by carcinoma cells: a case report
Authors: Yutaka J Kawamura, Michitaka Kohno, Junji Shiga, Naoki Asakage, Minoru Hatano, Hirohisa Okame, Junichi Sasaki, Shoichi Tobari, Katsunori Nishida
Journal: Surg Case Rep (2015)
Keywords: axillary lymph node metastasis, colorectal carcinoma, lymphatic invasion

Axillary lymph node metastasis from colorectal carcinoma is extremely rare, and this scarcity hinders understanding of its pathogenesis and, thus, the application of appropriate management. Here, we present a case with axillary lymph node metastasis of cecal carcinoma associated with macroscopic invasion of the skin of the abdominal wall with histological evidence of such invasion, findings which support our hypothesis that the axillary lymph node metastasis developed via the lymph channels in the skin of the abdominal wall. A 76-year-old woman with cecal carcinoma (T4N1M0), complicated with an abdominal wall abscess, underwent right hemicolectomy with partial resection of the abdominal wall. Histology demonstrated multiple sites of lymphatic invasion in the skin. Two months later, an enlarged right axillary lymph node was noticed on CT, and an excisional biopsy was obtained, which later confirmed metastatic adenocarcinoma. This is the first case report of axillary lymph node metastasis of carcinoma of the cecum with histologically proven invasion via the lymphatic system in the skin. If axillary lymph node metastasis results from aberrant lymphatics due to invasion from an adjacent organ, and not the result of systemic malignant disease, it may be considered as a surgically curable pathology. Therefore, the authors advocate that patients with axillary lymph node metastasis should be evaluated with regard to the possibility of surgical curability.