OpenMed/multicare-articles huggingface dataset:
De novo mutation in a male patient with Fabry disease: a case report
Authors: Francesco Iemolo, Federica Pizzo, Giuseppe Albeggiani, Carmela Zizzo, Paolo Colomba, Simone Scalia, Caterina Bartolotta, Giovanni Duro
Journal: BMC Res Notes (2014)
MeSH terms: Amino Acid Substitution, Fabry Disease / genetics, Germ-Line Mutation, Mutation, Missense, Point Mutation, alpha-Galactosidase / genetics, Case Reports, Adult, Amino Acid Sequence, Child, Conserved Sequence, Enzyme Replacement Therapy, Fabry Disease / complications, Fabry Disease / diagnosis, Fabry Disease / drug therapy, Female, Humans, Kidney Failure, Chronic / etiology, Male, Pedigree, Protein Folding, Sequence Alignment, Sequence Homology, Amino Acid, Stroke / etiology, Symptom Assessment, Thrombophilia / genetics, alpha-Galactosidase / chemistry, alpha-Galactosidase

Background:
Fabry disease is an X-linked inherited metabolic condition where the deficit of the α-galactosidase A enzyme, encoded by the GLA gene, leads to glycosphingolipid storage, mainly globotriaosylceramide. To date, more than 600 mutations have been identified in human GLA gene that are responsible for FD, including missense and nonsense mutations, small and large deletions. Such mutations are usually inherited, and cases of de novo onset occur rarely.
Case presentation:
In this article we report an interesting case of a 44-year-old male patient suffering from a severe form of Fabry disease, with negative family history. The patient showed signs such as cornea verticillata, angiokeratomas, cardiac and neurological manifestations, an end-stage renal disease and he had low α-galactosidase A activity. We detected, in this subject, the mutation c.493 G > C in the third exon of the GLA gene which causes the amino acid substitution D165H in the protein. This mutation affects the amino acid - belonging to the group of buried residues - involved, probably, in the preservation of the protein folding. Moreover, studies of multiple sequence alignment indicate that this amino acid is highly conserved, thus strengthening the hypothesis that it is a key amino acid to the enzyme functionality.The study of the relatives of the patient showed that, surprisingly, none of the members of his family of origin had this genetic alteration, suggesting a de novo mutation. Only his 11-year-old daughter - showing acroparaesthesias and heat intolerance with reduced enzymatic activity - had the same mutation.
Conclusions:
We suggest that a non-inherited mutation of the α-galactosidase A gene is responsible for Fabry disease in the patient who had reduced enzyme activity and classical clinical manifestations of the disease. In a family, it is rare to find only one Fabry disease affected subject with a de novo mutation. These findings emphasize the importance of early diagnosis, genetic counselling, studying the genealogical tree of the patients and starting enzyme replacement therapy to prevent irreversible vital organ damage that occurs during the course of the disease.
An unusual case of urinary tract infection in a pregnant woman with Photobacterium damsela
Authors: Jesus R Alvarez, Sangeeta Lamba, Keisha Y Dyer, Joseph J Apuzzio
Journal: Infect Dis Obstet Gynecol (2006)
MeSH terms: Gram-Negative Bacterial Infections / microbiology, Photobacterium / classification, Photobacterium / isolation & purification, Pregnancy Complications, Infectious / microbiology, Urinary Tract Infections / microbiology, Case Reports, Adult, Anti-Bacterial Agents / therapeutic use, Cefazolin / therapeutic use, Female, Gentamicins / therapeutic use, Gram-Negative Bacterial Infections / drug therapy, Humans, Pregnancy, Pregnancy Complications, Infectious / drug therapy, Trimethoprim, Sulfamethoxazole Drug Combination / therapeutic use, Urinary Tract Infections / drug therapy, Anti-Bacterial Agents, Gentamicins, Trimethoprim, Sulfamethoxazole Drug Combination, Cefazolin

We describe a case of a urinary tract infection with an unusual pathogen, Photobacterium damsela, in a pregnant female. This pathogen has been described as having a virulent life threatening nature, so a detailed history and prompt treatment is needed.
Case Report: Unusual Clinical Presentation of a Rare Cardiac Inflammatory Myofibroblastic Tumor in Children: The Differential Diagnosis With Pediatric Emergencies
Authors: Clio Bilotta, Giulio Perrone, Emiliano Maresi, Giovanni De Lisi, Pietro Di Pasquale, Ettore Piro, Antonina Argo, Stefania Zerbo
Journal: Front Pediatr (2021)
Keywords: children, heart, immunohistochemical investigations, inflammatory myofibroblastic tumor, rare tumor
MeSH terms: Case Reports

Introduction: There are still no guidelines about pediatric cardiac cancers. The purpose of this work is to provide new scientific data facilitating the differential diagnosis of a rare cardiac tumor with an unusual presentation, such as the cardiac inflammatory myofibroblastic tumor (IMT). Case Presentation: A 3-year-old male child presented with several symptoms including unconsciousness, vomiting, and drowsiness. A clinical and neurological examination revealed a unilateral (right) motor delay and positive unilateral Babinski sign. Electrocardiogram (ECG) was normal. Diagnostic Assessment: The total body computed tomography (CT) scans showed hypodensity in the left temporal-parietal lobe, a large hypodense area in the right frontal lobe, and a second area in the left frontal lobe were found with head CT. A magnetic resonance (MR) also noted cerebral areas of hypointensity. The echocardiographic images revealed an ovoid mass, adherent to the anterolateral papillary muscle. The histological exams, performed with hematoxylin-eosin, Masson's trichrome, Alcian blue PAS, Weigert and Van-Gieson stain, allowed observing the microscopic structure of the neoplastic mass. The immunohistochemical analysis was performed through subsequent antibodies: anti-vimentin, anti-actina, anti-ALK, anti-CD8, anti-CD3, anti-CD20, anti-kappa and lambda chains, and anti CD68 antibodies. The healthcare professionals diagnosed a cardiac IMT with brain embolism. Differential Diagnosis: The ventricular localization, observed through radiological exams, required a differential diagnosis with fibroma and rhabdomyoma, the presence of brain embolism with sarcoma, and its morphology with fibroma. Neurological symptoms might be attributed to encephalitis, primitive cerebral cancer, such as astrocytoma or neuroblastoma, cerebral metastases due to any malignancy, or embolic stroke. Conclusion: New studies are encouraged to better define IMT behavior and draw up guidelines confirming the crucial role of multidisciplinary approach and treatment protocol selected on the basis of the characteristics of the tumors, in the case of this rare type of cancer.
Two Cases of Perihepatitis With the Liver Capsule Irritation Sign: A New Physical Examination Technique
Authors: Mihiro Kaga, Shota Ito, Takeshi Ueda
Journal: Cureus (2023)
Keywords: fitz-hugh-curtis syndrome, perihepatitis, right upper quadrant abdominal pain, the liver capsule irritation sign, the peritoneal irritation sign, ultrasound (u/s)
MeSH terms: Case Reports

Perihepatitis, including Fitz-Hugh-Curtis syndrome, is an uncommon, chronic manifestation of pelvic inflammatory disease usually affecting premenopausal women. It causes right upper quadrant pain due to inflammation of the liver capsule and adhesion of the peritoneum. Since delayed diagnosis of Fitz-Hugh-Curtis syndrome can lead to infertility and other complications, physical examination findings need to be investigated to predict perihepatitis in the early stages of the disease. Here, we hypothesized that perihepatitis is characterized by increased tenderness and spontaneous pain in the right upper abdomen when the patient is placed in the left lateral recumbent position (we termed this indication the "liver capsule irritation sign"). We examined the patients physically for the presence of this liver capsule irritation sign for an early diagnosis of perihepatitis. We report the first two cases of perihepatitis due to Fitz-Hugh-Curtis syndrome in which the liver capsule irritation sign observed during the physical examination was used for diagnosis. The liver capsule irritation sign is caused by two mechanisms: first, the liver falls gravitationally into the left lateral recumbent position, which makes the liver easier to palpate; and second, the peritoneum is stretched and thus stimulated. The second mechanism is that the transverse colon running around the right upper abdomen slumps gravitationally when the patient is in the left lateral recumbent position, allowing for direct palpation of the liver. The liver capsule irritation sign can be a useful physical finding, suggestive of perihepatitis due to Fitz-Hugh-Curtis syndrome. It may also be suitable in cases of perihepatitis caused by factors other than Fitz-Hugh-Curtis syndrome.
A Case of Gastric Glomus Tumor Misdiagnosed as Carcinoid Tumor
Authors: Kosisochukwu J Ezeh, William Boateng, Bidhan Paudel, Obiora Ezeudemba, Youssef Botros
Journal: Cureus (2023)
Keywords: carcinoid tumour, gastric glomus tumors, gastrointestinal stromal tumor (gist), mesenchymal stromal cells, synaptophysin
MeSH terms: Case Reports

Glomus tumor is a rare mesenchymal tumor commonly located in the periphery of glomus bodies, such as the subungual regions (e.g., fingernails and toenails). Other locations include the forearm, wrist, or trunk. Even rare is when these tumors are found in the submucosa. In the stomach, it is commonly found at the gastric antrum. Gastric glomus tumors (GGTs) are often found incidentally after a presumption of other gastric tumors is diagnosed, such as gastrointestinal stromal tumors (GISTs) or carcinoid tumors. The variable clinical presentation of GGT and the fact that histology is the only way to confirm the diagnosis is what makes GGT such an elusive tumor. Our case is a patient that presented with weight loss and reflux. Esophagogastroduodenoscopy (EGD) and colonoscopy were done, and the diagnosis of carcinoid tumor was presumed. Preliminary pathology was suggestive of a diagnosis of carcinoid tumor. The patient eventually had a subtotal gastrectomy, and a biopsy with immunohistochemical staining of the specimen was received, finally confirming the diagnosis of a GGT.
Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism
Authors: Juliana Dourado Grzesiuk, Ciro Silveira Pereira, Carlos Henrique Paiva Grangeiro, Clarissa Gondim Picanço-Albuquerque, Flávia Gaona Oliveira-Gennaro, Filipe Brum Machado, Enrique Medina-Acosta, Ester Silveira Ramos, Maisa Yoshimoto, Lucia Martelli
Journal: Mol Cytogenet (2016)
Keywords: infertility, x inactivation, x, autosome translocation, array-cgh, recurrent mosaicism
MeSH terms: Case Reports

Background:
Individuals with apparently balanced translocations, often, show no clinical findings. However, in meiosis, translocations tend to cause errors on chromosome disjunction and the ones involving sex chromosomes have particular implications for the phenotype. Male carriers of balanced X-autosome translocations are almost invariably infertile due to interruption of the spermatogenesis, but the mechanism is not fully understood.
Case presentation:
In this case report, we performed a combination of classical cytogenetics (G-banding), molecular cytogenetics (fluorescence in situ hybridization and X-chromosome inactivation study), and cytogenomics (microarray-based comparative genomic hybridization) techniques for characterization of an inherited (X;22) translocation in a family originally referred for infertility investigation. Both proband and his sister are infertile and present the maternally inherited translocation. Interestingly, the maternal grandmother was mosaic for X chromosome monosomy suggesting that the t(X;22) in the proband's mother arose by errors at oogenesis. The presence of the same mosaicism of the X chromosome in the proband's aunt is consistent with this consideration. Array- CGH analysis showed no constitutional pathogenic gains or losses in the translocation carriers. The X-chromosome inactivation studies revealed that the translocated X;22 was active in 99.3% of cells in the mother and in 88% of cells in the daughter. We suggest that incomplete skewing of X inactivation (>97 %) of the daughter could justify the infertility. This study is the first description of recurrent mosaicism of the X chromosome associated with a familial X-autosome translocation.
Conclusions:
The phenotype of infertility was probably caused by disruption of spermatogenesis due to gametogenesis specific errors resulted from meiotic pairing and segregation anomalies on the translocated chromosomes.
How Speakers Orient to the Notable Absence of Talk: A Conversation Analytic Perspective on Silence in Psychodynamic Therapy
Authors: A S L Knol, Tom Koole, Mattias Desmet, Stijn Vanheule, Mike Huiskes
Journal: Front Psychol (2020)
Keywords: conversation analysis, psychodynamic therapy, psychotherapy process research, silence, single case study

Silence has gained a prominent role in the field of psychotherapy because of its potential to facilitate a plethora of therapeutically beneficial processes within patients' inner dynamics. This study examined the phenomenon from a conversation analytical perspective in order to investigate how silence emerges as an interactional accomplishment and how it attains interactional meaning by the speakers' adjacent turns. We restricted our attention to one particular sequential context in which a patient's turn comes to a point of possible completion and receives a continuer by the therapist upon which a substantial silence follows. The data collection consisted of 74 instances of such post-continuer silences. The analysis revealed that silence (1) can retroactively become part of a topic closure sequence, (2) can become shaped as an intra-topic silence, and (3) can be explicitly characterized as an activity in itself that is relevant for the therapy in process. Only in this last case, the absence of talk is actually treated as disruptive to the ongoing talk. Although silence is often seen as a therapeutic instrument that can be implemented intentionally and purposefully, our analysis demonstrated how it is co-constructed by speakers and indexically obtains meaning by adjacent turns of talk. In the ensuing turns, silence indeed shows to facilitate access to the patient's subjective experience at unconscious levels.
Pneumorrachis and pneumocephalus associated with neck injury after stabbing
Authors: Mehmet Huseyın Akgul
Journal: Int J Surg Case Rep (2020)
Keywords: neck injury, pneumorrrachis, pnumocephalus, stabbing
MeSH terms: Case Reports

Background:
Trauma-related pneumocephalus and subcutaneous emphysema are relatively common, but pneumocephalus and pneumorrachis that occur without surgery are very rare. We present a case of pneumorrachis and pnemocephalus developing in the literature for the first time after stabbing from the anterior cervical region and providing improvement with conservative treatment.
Case presentation:
A 42-year-old male patient was brought to the emergency department after stabbed in the neck. Anteromedial injury of the sternocloid muscle was followed by two lacerations with active bleeding from the same site. The patient was unconscious (Glasgow coma score 8(E2, M4, V2). The patient was intubated. Bleeding foci and lacerations were repaired in the emergency. Cranial, cervical, thoracic and lumbar non-contrast computed tomography scans were performed. Moderate pneumocephalus was seen in the subarachnoid space in the anterior of the bilateral frontal lobe and in the suprasellar cistern region. Pneumorrachis was seen in C2-C7 levels of cervical spinal canal. The patient was pentotalized. 100% oxygen treatment for 6 h was given from the ventilator in intensive unit. After 72 h, cranial, cervical, thoracic and lumbar CT were performed. Pneumorrachis and pneumocephalus were fully recovered.
Conclusion:
Pneumorrachis is usually asymptomatic and is self-limiting. It is a radiological diagnosis and is not a clinical diagnosis. CT scan is considered the preferred diagnostic method for reliable and rapid detection of pneumorrachis. In case of coexistence, The physician should be alert to diagnose and treat the underlying cause for related injuries.In such cases, successful results can be obtained with hyper-oxy therapy (100% oxygen inhalation) and antibiotic prophylaxis without the need for surgical treatment.
Case report: A balance of survival and quality of life in long-term survival case of lung adenocarcinoma with synchronous bone metastasis
Authors: Yao Xu, Haixiao Wu, Cong Wang, Yulin Ma, Chao Zhang
Journal: Front Oncol (2022)
Keywords: bone metastasis, case report, lung adenocarcinoma, quality of life, survival outcome
MeSH terms: Case Reports

Bone metastasis is one of the comorbidities of advanced lung cancer, eventually leading to an impaired quality of life. We present a case of a lung adenocarcinoma patient with synchronous bone metastasis. The patient possessed a superior survival time of more than five years under multidisciplinary treatment. Considering the balance of life expectancy and limb function, the metastatic site on the right humerus was successively surgically managed. Based on the present case, we emphasized the importance of treatment choice between anti-tumor and bone management in the long-term survival of cancer patients with synchronous bone metastasis.
Extensor Tendons Rupture after Volar Plating of Distal Radius Fracture Related to a Dorsal Radial Metaphyseal Bone Spur
Authors: M O Abrego, F L De Cicco, J G Boretto, G L Gallucci, P De Carli
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Extensor tendon ruptures due to volar plating in distal radius fractures have mostly been described in relation with technique failures such as screw prominence and drill penetration. We report the case of a 71-year-old female with a C2 distal radius fracture with severe dorsal metaphyseal comminution. The patient underwent surgical treatment with reduction of the large fragments and fixation with a volar locking plate; the small dorsal metaphyseal nonarticular fragments were not reduced. Six months later, the patient developed extensor digitorum communis (EDC) rupture and extensor indicis proprius (EIP) laceration in coincidence with the dorsal comminution turned into a bony spur. The possible association between the extensor tendon injury and the dorsal residual metaphyseal bony spur in the distal radius fractures is unusual but should be taken into account in fracture patterns presenting dorsal comminution.
When tissue is not the only issue: Poorly differentiated lung squamous-cell carcinoma with adrenal, costochondral, and cardiac metastases - case report
Authors: Megan Clark, Andres G Griborio-Guzman, Nishigandha P Burute, Sonja Lubbers, Margaret L Anthes, Masoud Sadreddini, Olexiy I Aseyev
Journal: Front Oncol (2023)
Keywords: cardiac imaging techniques, cardiac tumors, computed tomography (ct) scan, echocardiography, non-small cell lung cancer (nsclc), squamous cell carcinoma (scc), ultrasound-guided biopsy, undifferentiated pleomorphic sarcoma (ups)
MeSH terms: Case Reports

Nonmelanoma skin cancer is the most common cancer in the world, and lung cancer is the leading cause of death from cancer. Histologically, squamous cell carcinoma (SCC) is the second most prevalent type of both skin and lung cancers. We report the case of a 38-year-old female with metastatic, poorly differentiated lung SCC detected on chest X-ray after she presented to the hospital with cough and dyspnea. She had had a 7.5 cm moderately differentiated well-circumscribed posterior scalp SCC completely excised eight years earlier. CT scan showed a large right lung mass, nodular filling defect in the left atrium (LA), and metastases to the adrenal glands and the first rib. Her pulmonary tumor extends to the LA via the right superior pulmonary vein, which is rarely reported in the literature. Ultrasound-guided biopsy of the rib mass showed poorly differentiated SCC. The patient received urgent radiotherapy, given superior vena cava and mainstem bronchus compression. Head CT showed no brain metastasis. A biopsy of the left adrenal initially reported an undifferentiated pleomorphic sarcoma; however, a second pathologist reported it as a poorly differentiated carcinoma of lung origin. At least three pathologists verified the specimen, and it had a PD-L1 test with a 1-49% score. An initial echocardiogram confirmed the LA mass. The patient received a Paclitaxel-Carboplatin-Pembrolizumab regimen as the first-line treatment for metastatic SCC. A repeat echocardiogram after cycle 1 showed a decrease in the size of the tumor in the LA. Almost five months after her initial visit, this young woman's symptoms and performance status have improved post-palliative radiotherapy and chemo-immunotherapy. Follow-up CT showed smaller lung, nodal, adrenal, and costochondral masses, and evidence of necrosis. This case is clinically relevant because it represents a common problem presenting uncommonly. Moreover, it highlights that ultrasound-guided interventions and medical imaging are essential in directing metastatic cancer diagnosis, treatment, and follow-up, especially when pathology cannot confirm but only presume a specific diagnosis.
An asymptomatic case of peritoneal encapsulation: case report and review of the literature
Authors: Omer S Al-Taan, Martyn D Evans, Javid A Shami
Journal: Cases J (2010)

Peritoneal encapsulation is a rare congenital anomaly characterised by a thin membrane of peritoneum encasing the small bowel to form an accessory peritoneal sac. We present a case of peritoneal encapsulation diagnosed incidentally in an 82 year old man undergoing laparotomy for colonic cancer. The sac was easily excised and surgery was otherwise uneventful. A discussion of the case and a review of the literature are presented.
Intestinal obstruction caused by a laxative drug (Psyllium): A case report and review of the literature
Authors: Ashraf F Hefny, Adel Z Ayad, Nikolay Matev, Masoud O Bashir
Journal: Int J Surg Case Rep (2018)
Keywords: case report, constipation, gastrointestinal tract, laxatives, psyllium

Introduction:
Psyllium in granular dosage form is used as an over - the counter safe laxative drug. It has a considerable hygroscopic propriety which allows it to retain water and expands rapidly to become many times of its original size.
Presentation of the case:
21-year-old man presented to the Emergency Department complaining of lower abdominal pain and constipation for five days. He was discharged home on Psyllium for treatment of the constipation. Two days later, he returned to the Emergency Department complaining of increased abdominal distension without passing any stools. The patient was diagnosed to have an incomplete intestinal obstruction resulting from ingesting Psyllium husks without adequate amount of fluids. The patient was treated conservatively.
Discussion:
Psyllium has a reputation of being safe and effective medication for patients suffering from chronic constipation, especially in elderly. The patient who ingested Psyllium husks as a herbal medication did not receive adequate amount of fluids. Consequently, he developed intestinal obstruction. Similar cases have been reported in the English literature including cases of esophageal obstruction in elderly patients and following gastric banding operations. Furthermore, Psyllium administration with oral contrast in computed tomography enterography may precipitate bowel obstruction in the presence of organic obstruction or post-operative ileus.
Conclusion:
Psyllium can worsen the constipation if not taken appropriately. It is important to instruct patients who are receiving psyllium ingredients to drink a good amount of fluids to avoid the development of bowel obstruction especially in long-term use of such laxatives.