OpenMed/multicare-articles huggingface dataset:
Anesthetic management of a child with congenital insensitivity to pain with anhidrosis: A case report
Authors: Ying Zhang, Zhiyu Geng
Journal: Front Surg (2022)
Keywords: anesthesia, autonomic neuropathy type vi, congenital insensitivity to pain with anhidrosis, laryngeal mask airway, pediatrics
MeSH terms: Case Reports

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare, autosomal recessive disease classified as hereditary sensory and autonomic neuropathy type VI. Patients with CIPA are characterized by insensitivity to pain, episodes of unexplained fever, anhidrosis, self-mutilating behavior, intellectual disability, and autonomic nervous system abnormalities. The clinical features may intrinsically pose anesthetic challenges. We present a case of a patient with CIPA who underwent tumor biopsy under general anesthesia using a Supreme laryngeal mask airway without any complications. The anesthetic management of this condition is discussed.
A Case of Previously Undiagnosed Systemic Lupus Erythematosus and Mycobacterium tuberculosis Infection Presenting as Diffuse Alveolar Hemorrhage
Authors: Henna Iqbal, Benny Screws, Muhammad S Khan
Journal: Case Rep Rheumatol (2023)
MeSH terms: Case Reports

Diffuse alveolar hemorrhage (DAH) is described as the collection of blood in alveolar spaces caused by damaged pulmonary vasculature. It often presents as a life-threatening medical emergency that requires urgent medical intervention along with timely diagnosis and management of the underlying cause. We hereby report a 19-year-old female who presented with clinical and radiological characteristics consistent with DAH. Laboratory workup studies revealed a diagnosis of systemic lupus erythematosus (SLE) as well as Mycobacterium tuberculosis (MTB) infection. This report describes an extremely unusual case of undiagnosed SLE and coexistent tuberculosis presenting as DAH. This leads to an interesting possibility of risks in patients with immune-mediated vasculitis towards developing severe pulmonary disease in the setting of pulmonary mycobacterial infection.
The Use of CT-Guided Marking for the Laparoscopic Resection of a Solitary Retroperitoneal Metastasis of Colon Cancer
Authors: Hideto Ueki, Takuya Fujimoto, Masato Okuno, Yuji Kusuda, Isao Taguchi, Yasushi Itou, Sawami Kiyonaka, Gaku Kawabata
Journal: J Endourol Case Rep (2018)
Keywords: ct-guided marking, laparoscopic resection of tumor, small tumor, solitary metastasis to the retroperitoneum

Background: CT-guided marking technique is rarely used in abdominal or urologic surgery. We developed and performed a marking technique for a small tumor, undetectable by ultrasound, using CT guidance before laparoscopic resection of the tumor. Case Presentation: A 73-year-old woman with a history of breast cancer underwent right colectomy with D3 lymph node dissection for ascending colon cancer. Five years after the operation, a solitary tumor was found in the right pararenal region of the retroperitoneal space on enhanced abdominal CT. The tumor was 20 mm in diameter and undetectable by ultrasound, so we performed a marking technique using CT guidance before the operation. Placing the patient in a prone position on the CT table, a 22-gauge needle was inserted into the Gerota's fascia percutaneously and a mixed fluid containing India ink and Iopamidol was injected para to the tumor by the radiologist. During the surgery, the marker was clearly identified and the cutting line was determined to ensure a sufficient surgical margin. The tumor was laparoscopically resected as planned. The histopathologic diagnosis was adenocarcinoma, compatible with metastasis of colon cancer. The postoperative course was uneventful and the patient remained free of disease at 10 months after surgery. Conclusion: When resecting small tumors or tumors with an irregular margin, a marking technique is conducted before the surgery. But, preoperative CT-guided marking has not been applied generally for resection of intraabdominal lesion yet. CT-guided marking can be effective when performing minimally invasive and curable surgery on small tumors. This is the first report of an effective CT-guided marking before retroperitoneal laparoscopic tumorectomy. We believe that this technique provides an important therapeutic option for small tumors that may be undetectable by ultrasound.
A Case of Superficial Femoral Arteriovenous Fistula and Severe Venous Stasis Ulceration, Managed with an Iliac Extender Prosthesis
Authors: Nicole Ilonzo, Selena Goss, Chun Yang, Michael Dudkiewicz
Journal: Case Rep Vasc Med (2017)
MeSH terms: Case Reports

Most femoral artery arteriovenous fistulas occur as a result of percutaneous interventions. However, arteriovenous fistulas can occur in the setting of trauma, with resultant consequences such as heart failure, steal syndrome, or venous insufficiency. Indications for endovascular repair in this setting are limited to patients who are at too high risk for anesthesia, have a hostile groin, or would not survive significant bleeding. We report the case of a traumatic femoral arteriovenous fistula, causing severe venous insufficiency and arteriomegaly, in a 58-year-old male, with history of traumatic gunshot wound complicated by popliteal DVT. Surgical options for arteriovenous fistula include open and endovascular repair but this patient's fistula was more suitable for endovascular repair for reasons that will be discussed.
Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay
Authors: H Fryssira, E Tsoutsou, S Psoni, S Amenta, T Liehr, E Anastasakis, Ch Skentou, A Ntouflia, I Papoulidis, E Manolakos, N Chaliasos
Journal: Mol Cytogenet (2016)
Keywords: array-cgh, foxg1 syndrome, nova1, postnatal microcephaly, rett syndrome, seizures
MeSH terms: Case Reports

Background:
FOXG1 gene mutations have been associated with the congenital variant of Rett syndrome (RTT) since the initial description of two patients in 2008. The on-going accumulation of clinical data suggests that the FOXG1-variant of RTT forms a distinguishable phenotype, consisting mainly of postnatal microcephaly, seizures, hypotonia, developmental delay and corpus callosum agenesis.
Case presentation:
We report a 6-month-old female infant, born at 38 weeks of gestation after in vitro fertilization, who presented with feeding difficulties, irritability and developmental delay from the first months of life. Microcephaly with bitemporal narrowing, dyspraxia, poor eye contact and strabismus were also noted. At 10 months, the proband exhibited focal seizures and required valproic acid treatment. Array-Comparative Genomic Hybridization revealed a 4.09 Mb deletion in 14q12 region, encompassing the FOXG1 and NOVA1 genes. The proband presented similar feature with patients with 14q12 deletions except for dysgenesis of corpus callosum. Disruption of the NOVA1 gene which promotes the motor neurons apoptosis has not yet been linked to any human phenotypes and it is uncertain if it affects our patient's phenotype.
Conclusions:
Since our patient is the first reported case with deletion of both genes (FOXG1-NOVA1), thorough clinical follow up would further delineate the Congenital Rett-Variant phenotypes.
An ectopic adreocortical adenoma of the renal sinus: a case report and literature review
Authors: Jiexiu Zhang, Bianjiang Liu, Ninghong Song, Qiang Lv, Zenjun Wang, Ming Gu
Journal: BMC Urol (2016)
MeSH terms: Adrenal Cortex, Adrenocortical Adenoma / complications, Choristoma / complications, Kidney Neoplasms / complications, Case Reports, Research Support, Non-U.S. Gov't, Review, Adrenocortical Adenoma / diagnosis, Adrenocortical Adenoma / surgery, Adult, Angiography, Choristoma / diagnosis, Choristoma / surgery, Female, Humans, Kidney Diseases / complications, Kidney Diseases / diagnosis, Kidney Diseases / surgery, Kidney Neoplasms / diagnosis, Kidney Neoplasms / surgery, Tomography, X-Ray Computed

Background:
Ectopic adrenal tumors are very rare, especially in the renal sinus in adults. An unusual case of ectopic adrenal cortical adenoma in the right renal sinus is reported here.
Case presentation:
This patient was a 37-year-old woman. She was admitted to our hospital for hypertension and bilateral limb weakness. Computed tomography (CT) revealed a mass in right renal sinus. It was initially considered a tumor of the renal pelvis. Further computed tomographic angiography (CTA) showed the mass to be located outside the renal pelvis. After adequate preoperative preparation (blood pressure control and serum potassium supplement), the patient underwent laparoscopic resection of retroperitoneal tumor. During the procedure, a soft tissue tumor 3.4*3.0 cm(2) in size with a golden color was found in the right renal sinus. The final immunohistochemistry examination showed an ectopic adreocortical adenoma.
Conclusion:
Ectopic adrenal tumors are rare in the renal sinus and difficult to diagnose and treat. Large and functional tumors should be treated with complete resection. The procedure is sometimes difficult for tumors located deep in the renal sinus. The decision to perform an open or minimally invasive surgery should be made according to the surgeon's experience.
Juxta cortical tibia metastatic deposition in gastric cancer: a case report
Authors: Majid Sajjadi Saravi, M Hossein Karimi Nasab, Masoud Shayeste Azar, Ghasem Janbabai, Mehrdad Taghipour, S Omid Emadian Saravi, Fariborz Eshghi
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

We report a 41 years old man with rapidly growing and tender lump on the anteromedial surface of tibia. The patient had the history of gastrectomy and gastrojejunostomy due to gastric carcinoma. On admission, the Simple X-ray of lower extremity disclosed a slight thinning of the anterior cortex of tibia without cortical destruction. The whole-body bone scan with (99m)TC MDP revealed activity of lesion in all 3 phases. The histopathological evaluation showed an infiltration of bone with tumor cells. Review No the literature revealed in previous cases of skeletal metastasis from gastric cancer in the tibia like this.
Combined Lag Screw and Cerclage Wire Fixation for Calcaneal Tuberosity Avulsion Fractures
Authors: Vincenzo Giordano, Alexandre Leme Godoy-Santos, Felipe Serrão de Souza, Hilton Augusto Koch, Cesar de Cesar Netto, Stefan Rammelt
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Avulsion fractures of the calcaneal tuberosity represent a rare injury pattern that is caused by a powerful tension force from the Achilles tendon and is usually seen following minor trauma, especially in elderly patients. The objective of this study is to describe a surgical technique using cerclage wiring through cannulated screws in the treatment of extra- and intra-articular avulsion fractures of the calcaneal tuberosity and to present our results in a small patient's cohort. Through a 5.0 cm longitudinal skin incision over the posterolateral aspect of the calcaneus, after adequate debridement of the fracture fragments and while keeping the ankle in plantarflexion, the calcaneal tuberosity is anatomically reduced with the help of a periarticular reduction clamp and an accessory plantar longitudinal approach. Provisionally fixation is performed with K-wires. Definitive fixation is achieved with two parallel partially threaded 7.0 cannulated screws, which are positioned from the superior and posterior aspect of the tuberosity to the inferior and anterior aspect of the plantar surface of the calcaneus, and 1.5 mm cerclage wires that are pulled epiperiosteally to the plantar aspect of the calcaneus to avoid damage to local soft tissues. Alternatively, for smaller fracture fragments, two 3.5 mm partially threaded cannulated screws and 1.25 mm cerclage wires can be used. We also report the results of the procedure in a small cohort of four patients. All fractures healed in an anatomic position. There was no failure of fixation, loss of reduction, or need for secondary surgery, including hardware removal. At final follow-up, all patients had regained full plantar flexion range of motion and strength, with no gait or weight-bearing restrictions. In conclusion, the combination of cerclage wire and large diameter cannulated screws represents a promising option in the treatment of avulsion fractures of the calcaneal tuberosity, demonstrating good functional and radiographic results in our cohort of patients.
Development and Characterization of a Nanobody against Human T-Cell Immunoglobulin and Mucin-3
Authors: Mingyuan Xia, Xiangnan Hu, Qiuxiang Zhao, Yi Ru, He Wang, Fang Zheng
Journal: Comput Math Methods Med (2022)
MeSH terms: Single-Domain Antibodies, Case Reports, Enzyme-Linked Immunosorbent Assay, Female, Hepatitis A Virus Cellular Receptor 2, Humans, Mucin-3, T-Lymphocytes, Hepatitis A Virus Cellular Receptor 2, Mucin-3, Single-Domain Antibodies

Monoclonal antibodies and antibody-derived biologics are essential tools for cancer research and therapy. The development of monoclonal antibody treatments for successful tumor-targeted therapies took several decades. A nanobody constructed by molecular engineering of heavy-chain-only antibody, which is unique in camel or alpaca, is a burgeoning tools of diagnostic and therapeutic in clinic. In this study, we immunized a 4-year-old female alpaca with TIM-3 antigen. Then, a VHH phage was synthesized from the transcriptome of its B cells by nested PCR as an intermediate library; the library selection for Tim-3 antigen is carried out in three rounds of translation. The most reactive colonies were selected by periplasmic extract monoclonal ELISA. The nanobody was immobilized by metal affinity chromatography (IMAC) purification with the use of a Ni-NTA column, SDS-PAGE, and Western blotting. Finally, the affinity of TIM3-specific nanobody was determined by ELISA. As results, specific 15 kD bands representing nanomaterials were observed on the gel and confirmed by Western blotting. The nanobody showed obvious specific immune response to Tim-3 and had high binding affinity. We have successfully prepared a functional anti-human Tim-3 nanobody with high affinity in vitro.
Case report: Challenges and implications of conduction system pacing in pediatrics: Case series
Authors: Ruy Gonzalo Ploneda Valencia, Moisés Levinstein Jacinto, Carmen A Sánchez Contreras, Gustavo Ruiz González, Diego Neach de la Vega, Manlio F Márquez Murillo, Santiago Nava
Journal: Front Pediatr (2023)
Keywords: his bundle pacing, children, congenital heart block, left bundle branch pacing, pacemaker, physiological stimulation
MeSH terms: Case Reports

Cardiac electrical stimulation in children usually is needed in the setting of complete congenital atrioventricular block, atrioventricular block after heart surgery, and bradycardia associated with some specific channelopathies. In cases of atrioventricular block, the high percentage of ventricular stimulation raises concern on the deleterious effects of chronic stimulation of the right ventricle. In recent years, physiologic stimulation has developed as a valid approach for adult patients and a great interest has risen in offering conduction system pacing also to the pediatric population. We present three pediatric cases of stimulation of the conduction system (His bundle or left bundle branch), in order to show the intrinsic particularities and challenges implied in these new techniques.
Disseminated mucormycosis presenting as a renal mass in an human immunodeficiency virus-infected patient: A case report
Authors: Moshawa C Khaba, Lesedi M Nevondo, Sydney M Moroatshehla, Ndivhuho A Makhado
Journal: S Afr J Infect Dis (2021)
Keywords: aids, disseminated, human immunodeficiency virus, mucormycosis, renal mass
MeSH terms: Case Reports

Mucormycosis, an opportunistic fungal infection, is on the increase. Individuals at risk are those with diabetes mellitus, haematological malignancy, etc. Infections are uncommon in human immunodeficiency virus (HIV). Clinical presentations include rhinocerebral, pulmonary or disseminated forms. Risk factors should alert clinicians to a high index of suspicion. Prompt diagnosis, facilitated by radiological imaging and tissue sampling, with appropriate medical and surgical intervention can potentially improve patient outcomes. Here we describe a rare case of renal mass in a patient living with HIV presenting to casualty department with abdominal pain and fever. Radiological imaging showed a renal mass whilst histopathological findings were suggestive of mucormycosis. Management included antifungal therapy and subsequent nephrectomy. The patient improved significantly and was discharged home.
Subacute Urinary Retention due to a Subpubic Cartilaginous Cyst Treated with Surgical Resection and Internal Fixation: A Case Report and Review of the Literature
Authors: Yu Taniguchi, Hiroshi Kamada, Hisashi Sugaya, Tomofumi Nishino, Hajime Mishima, Naoyuki Ochiai, Masashi Yamazaki
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

A subpubic cartilaginous cyst is a rare mass lesion derived from the pubic symphysis, which can cause acute or subacute urinary retention. We report a case of a subpubic cartilaginous cyst in a 62-year-old woman that caused lower abdominal pain and subacute urinary retention, requiring surgical resection. On physical examination, a hard, flexible, nontender mass, 4 cm in diameter, was palpable along the lower border of the pubic bone, extending to the perineum. Magnetic resonance imaging revealed a clearly distinct (3.8 cm × 3.8 cm × 7.2 cm) mass on the midpelvic side of the pelvis, centered on the pubic joint. We proceeded with en bloc resection of the mass, including a resection margin of 1 cm on either side. The bony defect was fixed with a locking plate. On pathological assessment, the mass was diagnosed as a subpubic cartilaginous cyst arising from the cartilage of the pubic symphysis. No tumor recurrence was identified over a 4-year follow-up. Based on our experience, we propose that en bloc resection of the mass, including a wider resection centered on the pubic symphysis, with internal fixation, is a possible treatment for a subpubic cartilaginous cystic mass lesion.
Hypokalemic Periodic Paralysis as the First Manifestation of Thyrotropin-Secreting Pituitary Adenoma
Authors: Chatchon Kaewkrasaesin, Patinut Buranasupkajorn, Paisith Piriyawat, Sarat Sunthornyothin, Thiti Snabboon
Journal: Case Rep Endocrinol (2019)
MeSH terms: Case Reports

Thyrotoxic periodic paralysis is an unusual neurological manifestation of thyrotoxicosis, and even rarer when it occurs in thyrotropin-secreting pituitary adenoma, only 6 cases having been previously reported. We describe a case of pituitary microadenoma with clinical syndromes of thyrotoxicosis complicated with hypokalemic periodic paralysis. Clinical manifestations and proposed management are discussed.
Surgical treatment for unexplained severe pain of the thyroid gland: report of three cases and concise review of the literature
Authors: Jan van Schaik, Olaf M Dekkers, Eleonora P M van der Kleij-Corssmit, Johannes A Romijn, Hans Morreau, Cornelis J H van de Velde
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Painful thyroid has a limited differential diagnosis. In rare cases, no clear cause can be found after careful clinical, biochemical, and radiological analysis. This may lead to extensive patient morbidity and frustration when symptomatic treatment proves insufficient. Hemithyroidectomy or total thyroidectomy may then be the last resort for doctor and patient. Three cases of unexplained painful thyroid which were successfully treated with hemi or total thyroidectomy are presented. In two cases extensive histological evaluation did not yield a satisfactory explanation for the extreme thyroid pain. In one case histological evaluation of the thyroid revealed Hashimoto's thyroiditis. Review of the literature does not mention surgical treatment for unexplained painful thyroid, and only 15 cases of surgical treatment for painful Hashimoto's thyroiditis are presented. Surgical therapy is a successful final option in the treatment of unexplained painful thyroid and painful Hashimoto's thyroiditis.
Case report: Anti septin-5-encephalitis as a treatable cause of cerebellar ataxia and psychiatric symptoms
Authors: Johannes Wischmann, Kathrin Borowski, Joachim Havla, Franziska S Thaler, Tobias Winkler, Tobias Jung, Andreas Straube, Ilias Masouris
Journal: Front Neurol (2023)
Keywords: autoimmune encephalitis, bortezomib, case report, cerebellar syndrome, septin-5
MeSH terms: Case Reports

Objectives:
Anti-septin-5 encephalitis is a rare disease with only few published cases, mainly based on retrospective CSF and serum analyses. Predominant symptoms are cerebellar ataxia and oculomotor abnormalities. Due to the rareness of the disease, treatment recommendations are scarce. Herein, we prospectively describe the clinical course of a female patient with anti-septin-5 encephalitis.
Methods:
We describe diagnostic workup, treatment and follow-up of a 54-year-old patient presenting with vertigo, unsteady gait, lack of drive and behavioral changes.
Results:
Clinical examination revealed severe cerebellar ataxia, saccadic smooth pursuit, upbeat-nystagmus, and dysarthria. Additionally, the patient presented with a depressive syndrome. MRI of the brain and spinal cord were normal. CSF analysis showed lymphocytic pleocytosis (11 cells/μl). Extensive antibody testing revealed anti septin-5 IgG in both CSF and serum without coexisting anti-neuronal antibodies. PET/CT detected no signs of malignancy. Corticosteroids, plasma exchange, and rituximab led to transient clinical improvement followed by relapse. Re-applied treatment with plasma exchange followed by bortezomib resulted in moderate but sustained clinical improvement.
Discussion:
Anti septin-5 encephalitis represents a rare but treatable and therefore relevant differential diagnosis in patients with cerebellar ataxia. Psychiatric symptoms can be observed in anti septin-5 encephalitis. Immunosuppressive treatment including bortezomib is moderately effective.
Resuscitating the Baby after Shoulder Dystocia
Authors: Savas Menticoglou, Carol Schneider
Journal: Case Rep Obstet Gynecol (2016)

Background. To propose hypovolemic shock as a possible explanation for the failure to resuscitate some babies after shoulder dystocia and to suggest a change in clinical practice. Case Presentation. Two cases are presented in which severe shoulder dystocia was resolved within five minutes. Both babies were born without a heartbeat. Despite standard resuscitation by expert neonatologists, no heartbeat was obtained until volume resuscitation was started, at 25 minutes in the first case and 11 minutes in the second. After volume resuscitation circulation was restored, there was profound brain damage and the babies died. Conclusion. Unsuspected hypovolemic shock may explain some cases of failed resuscitation after shoulder dystocia. This may require a change in clinical practice. Rather than immediately clamping the cord after the baby is delivered, it is proposed that (1) the obstetrician delay cord clamping to allow autotransfusion of the baby from the placenta and (2) the neonatal resuscitators give volume much sooner.
Statin-Induced Triad of Autoimmune Myocarditis, Myositis, and Transaminitis
Authors: Muhammad Ajmal, Amitoj Singh, Saad Kubba, Michelle Hershman, Tushar Acharya
Journal: Case Rep Cardiol (2021)
MeSH terms: Case Reports

Despite well-established cardiovascular benefits, statins have been associated with myopathic side effects ranging from myalgias to rhabdomyolysis and autoimmune necrotizing myositis. Statins have not been previously shown to cause myocarditis. Our case highlights this rare entity.