OpenMed/multicare-articles huggingface dataset:
Oral melanoacanthoma: a case report and review of the literature
Authors: Vidya Lakshminarayanan, Kannan Ranganathan
Journal: J Med Case Rep (2009)

Introduction:
Oral melanoacanthoma is a rare, benign pigmented lesion characterized clinically by the sudden appearance and rapid growth of a macular brown-black lesion and histologically by acanthosis of the superficial epithelium and proliferation of dendritic melanocytes.
Case presentation:
We present a case report of oral melanoacanthoma in a 24-year-old Asian Indian man. He presented with an intra-oral brown macular lesion on the left buccal mucosa with a duration of one and a half months. Microscopic examination revealed acanthosis of stratified squamous surface epithelium and dendritic melanocytes diffusely distributed in the epithelium; the Masson-Fontana silver impregnation technique was used to demonstrate the dendritic melanocytes. Based on the history, clinical features and histological presentation, the lesion was diagnosed as melanoacanthoma.
Conclusion:
This is the first reported instance of oral melanoacanthoma in the Indian sub-continent. This report details the course of the lesion from diagnosis to its resolution. Melanoacanthoma must be differentiated from other intra-oral pigmented lesions and biopsy may be required to rule out melanoma.
Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods
Authors: Adrian M Shields, Alistair T Pagnamenta, Andrew J Pollard, OxClinWGS, Jenny C Taylor, Holger Allroggen, Smita Y Patel, Samantha J L Knight, Niko Popitsch, Carme Camps, Melissa M Pentony, Erika M Kvikstad, Lukas Lange, Mona Hashim, Steve Harris, Mark Tilley, Dimitris Vavoulis, Pamela Kaisaki, Vassilis Ragoussis, Matteo Feral, Anna H Schuh, Helene Dreau, Kate E Ridout, Pauline Robbe, Pavlos Antoniou, Outi Salminen, Maite Cabes, Laura Lopez, Angela Hamblin, John Taylor, Conrad Smith
Journal: Front Immunol (2019)
Keywords: complement deficiency, complement factor i, genomic medicine, neuroinflammation, pneumococcal infection, primary immunodeficiency
MeSH terms: Complement C3 / deficiency, Hereditary Complement Deficiency Diseases / diagnosis, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Adult, Child, Preschool, Complement C3 / genetics, Female, Genomics / methods, Hereditary Complement Deficiency Diseases / genetics, Humans, Primary Immunodeficiency Diseases / diagnosis, Primary Immunodeficiency Diseases / genetics, Complement C3, Complement Factor I Deficiency

Deficiency of complement factor I is a rare immunodeficiency that typically presents with increased susceptibility to encapsulated bacterial infections. However, non-infectious presentations including rheumatological, dermatological and neurological disease are increasingly recognized and require a high-index of suspicion to reach a timely diagnosis. Herein, we present two contrasting cases of complement factor I deficiency: one presenting in childhood with invasive pneumococcal disease, diagnosed using conventional immunoassays and genetics and the second presenting in adolescence with recurrent sterile neuroinflammation, diagnosed via a genomic approach. Our report and review of the literature highlight the wide spectrum of clinical presentations associated with CFI deficiency and the power of genomic medicine to inform rare disease diagnoses.
Nonobstetrical Acute Abdomen during Pregnancy as a Consequence of Colorectal Carcinoma Perforation: Case Report and Review of the Literature
Authors: Žana Žegarac, Željko Duić, Sandra Stasenko
Journal: Case Rep Gastrointest Med (2019)
MeSH terms: Case Reports

Colorectal carcinoma is a rare but potentially fatal disease complicating pregnancy. It occurs most frequently in patients aged 50, although some studies report increasing incidence in women under the age of 40. Diagnosis of colorectal cancer during pregnancy is usually made at an advanced stage due to unspecific symptoms. We will present a case of an acute abdomen during pregnancy due to colorectal carcinoma perforation in a 33-year-old patient in her 26th week of gestation. Because of her abdominal condition, left hemicolectomy with colostomy was performed. Two hours after surgery, the patient gave birth to a male child weighing 910 g with an Apgar score of 2/6. The pathohistological finding indicated adenocarcinoma of the colon in Dukes stage B.
Case Report: Intracranial Hypertension Secondary to Guillain-Barre Syndrome
Authors: Christina Doxaki, Eleftheria Papadopoulou, Iliana Maniadaki, Nikolaos G Tsakalis, Konstantinos Palikaras, Pelagia Vorgia
Journal: Front Pediatr (2021)
Keywords: guillain–barre syndrome, headache, hydrocephalus, intracranial hypertension, papilledema
MeSH terms: Case Reports

Guillain-Barre Syndrome (GBS), a common cause of acute flaccid paralysis, is characterized by a rapidly progressive, usually symmetric weakness of the extremities. Headache and intracranial hypertension (ICHT) are very rare complications of GBS. Herein we report our current case of an obese girl with typical signs of GBS associated with autonomic dysfunction, cranial nerve deficits and increased intracranial pressure (ICP). We also perform a systematic study presenting and discussing previous case reports of GBS associated with ICHT, papilledema or hydrocephalus, highlighting the differences of the current case compared to previous studies. Although intracranial hypertension is a rare complication of pediatric GBS, clinicians should promptly detect it. Obesity may be a predisposing factor, given the strong association between idiopathic intracranial hypertension (IIH) and weight gain. Neurological evaluation, fundus examination and low threshold for intracranial imaging should be an integral part of medical practice in case of obesity, headache or visual changes in GBS patients.
Case Report: Safety and Efficacy of Denosumab in Four Children With Noonan Syndrome With Multiple Giant Cell Lesions of the Jaw
Authors: Kristen Ferriero, Biraj Shah, Yun Yan, Surya Khatri, John Caccamese, Joseph A Napoli, Michael B Bober, Janet L Crane
Journal: Front Pediatr (2020)
Keywords: noonan syndrome, child, denosumab, jaw, multiple giant cell lesions
MeSH terms: Case Reports

Noonan syndrome is a genetic disorder caused by mutations in the RAS/MAPK pathway. Multiple giant cell lesions are a rare sequelae of disruptions in this pathway, termed Noonan-like multiple giant cell lesions (NL/MGCLs). Medical management of these tumors rather than surgical intervention is preferential as the lesions are benign but locally destructive and recurring. This case series describes four male pediatric patients with Noonan syndrome and multiple giant cell lesions of the jaw treated with denosumab, a monoclonal antibody to receptor activator of nuclear factor kappa B ligand (RANKL), which has been approved for the treatment of malignant giant cell tumors in adults but not evaluated for safety or efficacy in children. All four pediatric patients responded clinically and radiographically to the treatment. Adverse events occurred in a predictable pattern and included hypocalcemia and joint pain during the initiation of treatment and symptomatic hypercalcemia after the cessation of treatment. Growth was not significantly impaired in these skeletally immature patients. This case series demonstrates how a weight-adjusted denosumab dose can effectively treat NL/MGCLs and provides laboratory data for consideration of the timing of monitoring for known side effects.
Successful rehabilitation of partial edentulous maxilla and mandible with new type of implants: molecular precision implants
Authors: Matteo Danza, Dorina Lauritano, Francesco Carinci
Journal: Case Rep Med (2014)

The extraction of teeth results in rapid bone resorption both vertically and horizontally in the first month. The loss of alveolar ridge reduces the chance of implant rehabilitation. Atraumatic extraction, implant placement in extraction socket, and an immediate prosthesis have been proposed as alternative therapies to maintain the volume and contours tissue and reduce time and cost of treatment. The immediate load of implants is a universally practiced procedure; nevertheless a successful procedure requires expertise in both the clinical and the reconstructive stages using a solid implant system. Excellent primary stability and high bone-implant contact are only minimal requirements for any type of implant procedure. In this paper we present a case report using a new type of implants. The new type of implants, due to its sophisticated control system of production, provides to the implantologist a safe and reliable implant, with a macromorphology designed to ensure a close contact with the surrounding bone.
Metastatic Cutaneous Melanoma of the Gallbladder
Authors: Dhruvan Patel, Shazia Sohrawardy, Yub Raj Sedhai, Soney Basnyat, Anisha Daxini, Aparna Basu, Vivek R Mehta, Aasim Mohammed, Steven Lichtenstein
Journal: Case Rep Gastrointest Med (2017)
MeSH terms: Case Reports

Metastatic melanoma is an aggressive disease that can spread to many organs of the body. In rare cases, it can spread to the gallbladder causing secondary lesions, yet presenting with little to no symptoms. Therefore, most cases of metastatic melanoma lesions to the gallbladder go undiagnosed. Here, we present the case of a 41-year-old male with a four-month history of melanoma of the face, with a postresection status, who presented with right upper quadrant abdominal pain. Doppler ultrasound and computed tomography confirmed the presence of a mass on the gallbladder. Laparoscopic excision along with liver wedge resection was performed. Pathology staining revealed the presence of a malignant metastatic melanoma lesion of the gallbladder.
Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspring
Authors: Valeria Capra, Samantha Mascelli, Maria Luisa Garrè, Paolo Nozza, Carlotta Vaccari, Lara Bricco, Frédérique Sloan-Béna, Stefania Gimelli, Cristina Cuoco, Giorgio Gimelli, Elisa Tassano
Journal: PLoS One (2013)
MeSH terms: Chromosomes, Human, Pair 15 / genetics, Gene Duplication / genetics, Genetic Predisposition to Disease, Parents, Case Reports, Research Support, Non-U.S. Gov't, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 22 / genetics, Comparative Genomic Hybridization, Family, Female, Humans, In Situ Hybridization, Fluorescence, Infant, Newborn, Inheritance Patterns / genetics, Male, Pedigree, Pregnancy, Chromosome 22, microdeletion 22 q11

Microarray-based comparative genomic hybridization (array-CGH) led to the discovery of genetic abnormalities among patients with complex phenotype and normal karyotype. Also several apparently normal individuals have been found to be carriers of cryptic imbalances, hence the importance to perform parental investigations after the identification of a deletion/duplication in a proband. Here, we report the molecular cytogenetic characterization of two individuals in which the microdeletions/duplications present in their parents could have predisposed and facilitated the formation of de novo pathogenic different copy number variations (CNVs). In family 1, a 4-year-old girl had a de novo pathogenic 10.5 Mb duplication at 15q21.2q22.2, while her mother showed a 2.262 Mb deletion at 15q13.2q13.3; in family 2, a 9-year-old boy had a de novo 1.417 Mb deletion at 22q11.21 and a second paternal deletion of 247 Kb at 22q11.23 on the same chromosome 22. Chromosome 22 at band q11.2 and chromosome 15 at band q11q13 are considered unstable regions. We could hypothesize that 15q13.2q13.3 and 22q11.21 deletions in the two respective parents might have increased the risk of rearrangements in their children. This study highlights the difficulty to make genetic counseling and predict the phenotypic consequences in these situations.
Atypical Mycobacterial Infection Arising Amid Corticosteroid Therapy for Livedoid Vasculopathy
Authors: John R Edminister, Nicole Dominiak, Lorie D Gottwald
Journal: Case Rep Dermatol Med (2019)
MeSH terms: Case Reports

Patients who suffer from rare skin diseases may try numerous therapies with many potential side effects before achieving remission. Livedoid vasculopathy (LV) is one such rare disease that lacks a definitive treatment as evidenced by randomized controlled trials. Although corticosteroids help reduce the pain flares associated with LV, they come at the risk of immunosuppression. We present a case of disseminated cutaneous infection of M. chelonae/abscessus arising in a diabetic patient on long-term corticosteroid therapy. This patient required an intensive antibiotic regimen and potentially lifelong antibiotic suppression pending improvement of her disseminated cutaneous infection. We report this case to increase awareness of the diagnostic consideration of atypical, rapidly growing mycobacterial (RGM) infection when encountering patients with a diffuse onset of ulcerative skin nodules amid a background of diabetes and long-term corticosteroid use.
Acute Gastric Volvulus on Hiatal Hernia
Authors: Abdessamad El Kaoukabi, Mohamed Menfaa, Samir Hasbi, Fouad Sakit, Abdelkrim Choho
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

The gastric volvulus is defined as an abnormal rotation of all or part of the stomach around one of its axes, creating the conditions of an upper abdominal obstruction with gastric dilation and risk of strangulation. It is a rare entity that requires a surgical treatment, and its diagnosis is often delayed due to frequently aspecific symptoms. We will describe the observation of a 62 year old patient who presented to the emergency department for acute epigastric pain with dyspnea. The thoracoabdominal CT has demonstrated a stasis stomach on pyloric obstacle evoking a gastric torsion. An upper gastrointestinal endoscopy (EGD) and an upper gastrointestinal contrast made it possible to diagnose an acute gastric volvulus on hiatal hernia. A midline laparotomy was performed with detorsion of the stomach and repair of the hiatal hernia. The patient recovered gradually and was discharged on the sixth postoperative day. Three months after the operation, the patient remained asymptomatic.
Pathophysiology and symptoms of renal colic in children - a case report
Authors: Magda Rakowska, Katarzyna Królikowska, Katarzyna Jobs, Małgorzata Placzyńska, Bolesław Kalicki
Journal: Dev Period Med (2018)
Keywords: children, pain, pathophysiology, renal colic, treatment, urolithiasis
MeSH terms: Renal Colic / physiopathology, Review, Child, Preschool, Humans, Male, Prognosis, Renal Colic / diagnostic imaging, Renal Colic / therapy

Urolithiasis is a disease characterized by the presence of stones in the kidney or urinary tract. It is often detected accidentally during an ultrasound or an abdominal x-ray performed for other reasons. However, the first symptom of kidney stone disease can be severe pain called renal colic. Pain caused by a colic attack is characterized by sudden onset. In half of the cases it is associated with nausea or vomiting and can lead to hypotension and fainting. The exact location and radiation of the pain depends on the location of the stone in the urinary tract. The first most commonly performed study is abdominal ultrasound with estimation of the deposit size and evaluation of urinary tract obstruction. Alternative or complementary studies are: an abdominal x-ray where radiopaque deposits can be shown, or unenhanced helical computed tomography of the abdomen. The severity of pain depends on the individual pain threshold and on the change in hydrostatic pressure in the part of the urinary system above the obstruction. Prolonged deposition of the stone in one place causes the activation of autoregulatory mechanisms to lower the pressure of the upper urinary tract, which limits the pain. The basic treatment for renal colic is analgetic therapy. The most commonly used drugs are NSAIDs and opiates. Another important component of renal colic treatment are medications that facilitate urinary stone passage by reducing oedema or limiting urethral contractions, such as: calcium channel blockers, alpha blockers, phosphodiesterase inhibitors. Intensive hydration is not currently recommended. Patients who are unlikely to spontaneously excrete the stone are eligible for minimally invasive treatment. The risk of urolithiasis recurring is high, reaching up to 40% in 5 years and up to 50% in 10 years. However, it can be reduced by proper prevention. The paper describes the pathophysiology of pain in renal colic, the treatment methods, and the case of a boy with recurrent renal colic.
Autologous Minimally Invasive Cell-Based Therapy for Meniscal and Anterior Cruciate Ligament Regeneration
Authors: Pradeep V Mahajan, Swetha Subramanian, Siddhesh C Parab, Sanskruti Mahajan
Journal: Case Rep Orthop (2021)
MeSH terms: Case Reports

The meniscus is a fibrocartilaginous tissue that acts as a "shock absorber," along with performing functions such as stabilization and lubrication of the joint, proprioception, and load distribution. Sudden twisting movements during weight bearing or trauma can cause injury to the menisci, which leads to symptoms such as pain, swelling, and difficulty in performing movements, among others. Conventional pharmacological and surgical treatments are effective in treating the condition; however, do not result in regeneration of healthy tissues. In this report, we highlight the role of cell-based therapy in the management of medial and lateral meniscal and anterior cruciate ligament tears in a patient who was unwilling to undergo surgical treatment. We injected autologous mesenchymal stem cells obtained from the bone marrow and adipose tissue and platelet-rich plasma into the joint of the patient at the area of injury, as well as intravenously. The results of our study corroborate with those previously reported in the literature regarding the improvement in clinical parameters and regeneration of meniscal tissue and ligament. Thus, based on previous literature and improvements noticed in our patient, cell-based therapy can be considered a safe and effective therapeutic modality in the treatment of meniscal tears and cruciate ligament injury.
Brain Vital Signs Detect Cognitive Improvements During Combined Physical Therapy and Neuromodulation in Rehabilitation From Severe Traumatic Brain Injury: A Case Report
Authors: Shaun D Fickling, Trevor Greene, Debbie Greene, Zack Frehlick, Natasha Campbell, Tori Etheridge, Christopher J Smith, Fabio Bollinger, Yuri Danilov, Rowena Rizzotti, Ashley C Livingstone, Bimal Lakhani, Ryan C N D'Arcy
Journal: Front Hum Neurosci (2020)
Keywords: brain vital signs, case report, electroencephalography (eeg), neuroplasticity, post-traumatic stress disorder (ptsd), translingual neurostimulation (tlns), traumatic brain injury (tbi)

Using a longitudinal case study design, we have tracked the recovery of motor function following severe traumatic brain injury (TBI) through a multimodal neuroimaging approach. In 2006, Canadian Soldier Captain (retired) Trevor Greene (TG) was attacked with an axe to the head while on tour in Afghanistan. TG continues intensive daily rehabilitation, which recently included the integration of physical therapy (PT) with neuromodulation using translingual neurostimulation (TLNS) to facilitate neuroplasticity. Recent findings with PT + TLNS demonstrated that recovery of motor function occurred beyond conventional time limits, currently extending past 14-years post-injury. To investigate whether PT + TLNS similarly resulted in associated cognitive function improvements, we examined event-related potentials (ERPs) with the brain vital signs framework. In parallel with motor function improvements, brain vital signs detected significant increases in basic attention (as measured by P300 response amplitude) and cognitive processing (as measured by contextual N400 response amplitude). These objective cognitive improvements corresponded with TG's self-reported improvements, including a noteworthy and consistent reduction in ongoing symptoms of post-traumatic stress disorder (PTSD). The findings provide valuable insight into the potential importance of non-invasive neuromodulation in cognitive rehabilitation, in addition to initial indications for physical rehabilitation.
Case Report: Interventional therapy for coronary artery occlusion in a 6-year-old child with Kawasaki disease
Authors: Lu Zhao, Li-Ping Xie, Lan He, Xue-Cun Liang, Chen Chu, Fang Liu
Journal: Front Pediatr (2022)
Keywords: cto (chronic total occlusion), cto - percutaneous coronary intervention, children, cornary artery, kawasaki disease
MeSH terms: Case Reports

A 6-year-old girl was diagnosed with Kawasaki disease and bilateral giant coronary artery aneurysms at four months old and was subsequently referred to our hospital due to chest pain and T wave changes on electrocardiography. After admission, stress myocardial perfusion imaging showed reversible ischemia in multiple areas of the left ventricle. Coronary angiography revealed complete proximal segment occlusion of the left circumflex artery (LCX). The occluded LCX was recanalized by a Gaia 3rd micro-wire successfully passing through the occluded section to the distal end of the LCX, followed by sequential balloon dilation and drug-coated balloon angioplasty. Coronary angiography immediately after post-dilation and one-year follow-up angiography showed that the structure and blood flow of LCX was good. Although percutaneous coronary intervention (PCI) in pediatric patients with Kawasaki disease is limited in practice, PCI remains one of the treatment options for selected patients.
Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling
Authors: Agnese Feresin, Tamara Stampalija, Stefania Cappellani, Rossana Bussani, Flavio Faletra, Flora Murru, Sheila Ulivi, Sarah Suergiu, Pasquale Savarese, Antonio Pedicini, Margherita Policicchio, Raffaella Ruggiero, Barbara Bosio, Giovanni Savarese, Carmela Ardisia
Journal: Front Genet (2022)
Keywords: nipt, snp array, autopsy, false negative cffdna, feto-placental mosaicism, trisomy 21
MeSH terms: Case Reports

The sequencing of cell-free fetal DNA in the maternal plasma through non-invasive prenatal testing (NIPT) is an accurate genetic screening test to detect the most common fetal aneuploidies during pregnancy. The extensive use of NIPT, as a screening method, has highlighted the limits of the technique, including false positive and negative results. Feto-placental mosaicism is a challenging biological issue and is the most frequent cause of false positive and negative results in NIPT screening, and of discrepancy between NIPT and invasive test results. We are reporting on two cases of feto-placental mosaicism of trisomy 21, both with a low-risk NIPT result, identified by ultrasound signs and a subsequent amniocentesis consistent with a trisomy 21. In both cases, after the pregnancy termination, cytogenetic and/or cytogenomic analyses were performed on the placenta and fetal tissues, showing in the first case a mosaicism of trisomy 21 in both the placenta and the fetus, but a mosaicism in the placenta and a complete trisomy 21 in the fetus in the second case. These cases emphasize the need for accurate and complete pre-test NIPT counselling, as well as to identify situations at risk for a possible false negative NIPT result, which may underestimate a potential pathological condition, such as feto-placental mosaicism or fetal trisomy. Post-mortem molecular autopsy may discriminate between placental, fetal and feto-placental mosaicism, and between complete or mosaic fetal chromosomal anomalies. A multidisciplinary approach in counselling, as well as in the interpretation of biological events, is essential for the clarification of complex cases, such as feto-placental mosaicisms.