OpenMed/multicare-articles huggingface dataset:
Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome
Authors: Alejandra Aird, Macarena Lagos, Alexander Vargas-Hernández, Jennifer E Posey, Zeynep Coban-Akdemir, Shalini Jhangiani, Emily M Mace, Anaid Reyes, Alejandra King, Felipe Cavagnaro, Lisa R Forbes, Ivan K Chinn, James R Lupski, Jordan S Orange, Maria Cecilia Poli
Journal: Front Pediatr (2019)
Keywords: nf-κb2, nk cell deficiency, common variable immunodeficiency (cvid), nephrotic syndrome, pituitary deficiency, primary immunodeficiency, systemic cytomegalovirus
MeSH terms: Case Reports

Nuclear factor kappa-B subunit 2 (NF-κB2/p100/p52), encoded by NFKB2 (MIM: 164012) belongs to the NF-κB family of transcription factors that play a critical role in inflammation, immunity, cell proliferation, differentiation and survival. Heterozygous C-terminal mutations in NFKB2 have been associated with early-onset common variable immunodeficiency (CVID), central adrenal insufficiency and ectodermal dysplasia. Only two previously reported cases have documented decreased natural killer (NK) cell cytotoxicity, and little is known about the role of NF-κB2 in NK cell maturation and function. Here we report a 13-year-old female that presented at 6 years of age with a history of early onset recurrent sinopulmonary infections, progressive hair loss, and hypogamaglobulinemia consistent with a clinical diagnosis of CVID. At 9 years of age she had cytomegalovirus (CMV) pneumonia that responded to ganciclovir treatment. Functional NK cell testing demonstrated decreased NK cell cytotoxicity despite normal NK cell numbers, consistent with a greater susceptibility to systemic CMV infection. Research exome sequencing (ES) was performed and revealed a novel de novo heterozygous nonsense mutation in NFKB2 (c.2611C>T, p.Gln871*) that was not carried by either of her parents. The variant was Sanger sequenced and confirmed to be de novo in the patient. At age 12, she presented with a reactivation of the systemic CMV infection that was associated with severe and progressive nephrotic syndrome with histologic evidence of pedicellar effacement and negative immunofluorescence. To our knowledge, this is the third NF-κB2 deficient patient in which an abnormal NK cell function has been observed, suggesting a role for non-canonical NF-κB2 signaling in NK cell cytotoxicity. NK cell function should be assessed in patients with mutations in the non-canonical NF-κB pathway to explore the risk for systemic viral infections that may lead to severe complications and impact patient survival. Similarly NF-κB2 should be considered in patients with combined immunodeficiency who have aberrant NK cell function. Further studies are needed to characterize the role of NF-κB2 in NK cell cytotoxic function.
Complete Heart Block: A Rare Complication of Takotsubo Syndrome
Authors: N F N Sakul, Srijan Shrestha, Nikhita Balabbigari, Sapan Talati
Journal: Case Rep Cardiol (2019)
MeSH terms: Case Reports

Takotsubo syndrome was believed to be a rare acute cardiac event until recently with takotsubo cardiomyopathy being its most commonly recognized and often the diagnostic feature. Its diagnosis is becoming increasingly common with varied clinical manifestations most of whom have favorable clinical outcomes, yet it can be associated with life-threatening complications. We report a case of takotsubo syndrome leading to complete heart block which is a unique complication of an otherwise self-resolving disease.
Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia
Authors: Jakob Höppner, Sabrina Lais, Claudia Roll, Andreas Wegener-Panzer, Dagmar Wieczorek, Wolfgang Högler, Corinna Grasemann
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: fhh, calcium sensing receptor (casr), familial hypocalciuric hypercalcemia, management, neonatal hyperparathyroidism, pregnancy
MeSH terms: Heat-Shock Proteins / genetics, Hypercalcemia / congenital, Hyperparathyroidism, Primary / pathology, Infant, Newborn, Diseases / pathology, Mutation, Paternal Inheritance, Scavenger Receptors, Class A / genetics, Case Reports, Calcium / metabolism, Humans, Hypercalcemia / complications, Hyperparathyroidism, Primary / etiology, Hyperparathyroidism, Primary / metabolism, Infant, Newborn, Infant, Newborn, Diseases / etiology, Infant, Newborn, Diseases / metabolism, Male, Prognosis, Heat-Shock Proteins, SCARA3 protein, human, Scavenger Receptors, Class A, Calcium, Hyperparathyroidism, Neonatal Severe Primary, Hypocalciuric hypercalcemia, familial, type 1

Familial hypocalciuric hypercalcemia (FHH, [OMIM #145980]) is recognized as a benign endocrine condition affecting PTH and calcium levels due to heterozygous inactivating mutations in the calcium sensing receptor (CaSR). The condition is often un- or misdiagnosed but may have a prevalence as high as 74 in 100.000. Here, the neonatal courses of two brothers with paternally inherited FHH (CaSR c.554G>A; p.(Arg185Gln)) are described. The older brother was born preterm at 25 weeks gestation with hypercalcemia and hyperparathyroidism. The younger brother, born full-term, had severe hyperparathyroidism, muscular hypotonia, thrombocytopenia, failure to thrive and multiple metaphyseal fractures. Treatment with cinacalcet was initiated, which resulted in subsequent reduction of PTH levels and prompt clinical improvement. While it is known that homozygous mutations in CaSR may lead to life-threatening forms of neonatal severe hyperparathyroidism (NSHPT), few reports have described a severe clinical course in neonates with FHH due to heterozygous mutations. However, based on the pathophysiological framework, in de novo or paternally transmitted FHH the differing calcium needs of mother and fetus can be expected to induce fetal hyperparathyroidism and may result in severe perinatal complications as described in this report. In summary, FHH is a mostly benign condition, but transient neonatal hyperparathyroidism may occur in affected neonates if the mutation is paternally inherited. If severe, the condition can be treated successfully with cinacalcet. Patients with FHH should be informed about the risk of neonatal disease manifestation in order to monitor pregnancies and neonates.
Multimodal imaging of combined hamartoma of the retina and retinal pigment epithelium associated with an acquired vitelliform lesion
Authors: Bora Chae, Elona Dhrami-Gavazi, Kunal K Dansingani, K Bailey Freund, Winston Lee, Lawrence A Yannuzzi
Journal: Int J Retina Vitreous (2015)
Keywords: combined hamartoma, optical coherence tomography angiogram, vitelliform lesion, vitreo-macular traction
MeSH terms: Case Reports

Background:
We present a case of a combined hamartoma of the retina and retinal pigment epithelium associated with a subfoveal acquired vitelliform lesion induced by vitreomacular traction. The purpose of this report is to present a unifying hypothesis of these concurrent findings, as aided by multimodal imaging.
Case presentation:
A 25-year-old white man presented with a 6-month history of a visual disturbance in his left eye. At presentation, ophthalmic assessment showed a combined hamartoma adjacent to his optic nerve that had caused marked corrugation within the inner retinal surface. An acquired vitelliform lesion was present in the macula with an associated epiretinal membrane as demonstrated on spectral-domain optical coherence tomography. Optical coherence tomography angiography corroborated the clinical diagnosis of combined hamartoma.
Conclusions:
We are not aware of previous cases of a combined hamartoma associated with an acquired vitelliform lesion. As previously proposed in acquired vitelliform lesions related to epiretinal membrane and vitreoretinal traction, we believe that macular tractional forces might interfere with retinal pigment epithelium phagocytosis of shed outer segments, leading to the occurrence of this acquired vitelliform lesion.
Vaginal Urinary Calculi Formation Secondary to Vaginal Mesh Exposure with Urinary Incontinence
Authors: Kara M Griffiths, Geoffrey D Towers, Jerome L Yaklic
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

Background:
Vaginal stones may form in the setting of mesh exposure with urinary incontinence. This report serves to help understand the presentation, evaluation, and management of vaginal urinary stones.
Case:
A 68-year-old female presented with a vaginal calculus. She had a history of anterior and posterior polypropylene mesh placement for prolapse 7 years earlier and urinary incontinence. The stone was identified on a portion of exposed mesh and removed in office. Pathology confirmed urinary etiology. The exposed mesh resolved with topical estrogen. Cystourethroscopy excluded urinary fistula and bladder mesh erosion.
Conclusions:
When identified, a vaginal calculus should be removed and evaluated for composition. Cystourethroscopy should be performed to assess potential urinary tract fistulas and mesh erosion. Additional imaging should be considered.
Incidentalomas Among Healthy Nephrology Fellow Volunteers at POCUS Workshops: A Case Series
Authors: Ira Blau, Behdad Besharatian, Nathaniel Reisinger
Journal: POCUS J (2022)
Keywords: incidentaloma, junctional parenchymal defect, pocus, pelvic kidney, simple renal cyst, volunteer
MeSH terms: Case Reports

A radiographic incidental finding (sometimes called an incidentaloma) is defined as a structure that is unintentionally found during an exam for an unrelated indication. The increased use of routine abdominal imaging is associated with a rising incidence in incidentalomas of the kidney 1. In one meta-analysis, 75% of renal incidentalomas were benign 2. However, the overall prevalence of incidental carcinomas is low at 0.2% 3. With the growing uptake of POCUS, healthy volunteers for clinical demonstrations may find themselves with new findings despite a lack of symptoms 4. Having an incidentaloma discovered during the course of a nephrology POCUS workshop is a unique experience. Herein we report our experiences of having incidentalomas discovered during the course of POCUS demonstrations.
Hydroperitoneum: A Rare Complication Performing Endoscopic Combined Intrarenal Surgery
Authors: Alfonso Benincasa, Federico Nicolosi, Mario Falsaperla, Alberto Saita
Journal: J Endourol Case Rep (2016)
MeSH terms: Case Reports

Background:
Recently endoscopic combined intrarenal surgery (ECIRS) has been introduced as an innovative approach for the treatment of complex single, multiple, and staghorn urolithiasis, which reveals to be a viable alternative to standard percutaneous nephrolithotomy. Although considered to be a versatile, safe, and efficient endoscopic procedure, it is not free from complications. We would like to report two rare cases of hydroperitoneum that occurred during ECIRS and their management.
Case presentation:
Two female patients, respectively, of 75 and 41 years of age, underwent ECIRS procedure for the treatment of complex staghorn kidney urolithiasis, previously evaluated by noncontrast computed tomography (CT) scan. A combined retrograde-percutaneous access to the intrarenal collecting system, under fluoroscopic and ultrasound guidance with the additional assistance of Endovision technique, was performed. At the end of the procedures, both patients revealed a taut and globous abdomen, and a perioperative CT and ultrasonography revealed the presence of intraperitoneal liquid. Both patients were effectively treated with immediate positioning of abdominal drain with rapid improvement of the clinical presentation.
Conclusion:
To our knowledge these are the first two cases of hydroperitoneum occurring during ECIRS and reported in the literature. An early detection of the complication and its prompt treatment revealed to be crucial to effectively prevent morbidity.
Moving forward in treatment of posttraumatic stress disorder: innovations to exposure-based therapy
Authors: Mirjam J Nijdam, Eric Vermetten
Journal: Eur J Psychotraumatol (2018)
Keywords: posttraumatic stress disorder, exercise therapy, psychotherapy, therapy process research, treatment outcome, treatment resistance, virtual reality treatment, • the treatment of ptsd can be greatly enhanced by empowering the patient to engage in a multi-modal virtual reality• the patient is walking (instead of sitting) while being exposed to self-chosen pictures of traumatic hot spots• this novel approach to treatment of ptsd builds on a cognitive-motor interaction in a virtual interactive environment• multimodular motion-assisted memory desensitization and reprocessing (3mdr) is based on the theory of memory reconsolidation and the embodiment of cognition• the patient steps into the past by using forward motion as an essential ingredient to augment the impact of exposure to traumatic events• innovations with personalized vr and motion need to be further investigated and implemented in current therapy settings• these approaches contribute to enhancement of personal efficacy and self-reflectiveness generated by a sense of presence and emotional engagement
MeSH terms: Case Reports

The field of treatment of posttraumatic stress disorder (PTSD) has been a pacesetter for the changing face of psychotherapy, as is illustrated in the introduction of Virtual Reality Exposure Therapy. This paper outlines a novel approach that builds on a cognitive-motor interaction in a virtual interactive environment. It is based on the theory of memory reconsolidation and the embodiment of cognition. The framework we envision allows the patient to 'step into the past' by using forward motion as an essential ingredient to augment the impact of exposure to traumatic events. The behavioural response of approaching that is the exact opposite from the avoidance usually applied by patients and the enhancement of divergent thinking are the most prominent hypothesized mechanisms of action. This can contribute to strengthening of personal efficacy and self-reflection that is generated by high emotional engagement, as well as a sense of accomplishment and enhanced recovery as illustrated by a clinical case example. We argue that innovations with personalized virtual reality and motion need to be further investigated and implemented in current therapy settings.
Two-year disease remission of an unresectable basaloid thymic carcinoma with second line chemotherapy drugs: report of a case
Authors: Agustín Buero, Silvia Quadrelli, Leonardo German Pankl, Felix Vigovich
Journal: Pan Afr Med J (2019)
Keywords: mediastinal tumor, basaloid carcinoma, thymus
MeSH terms: Chemoradiotherapy / methods, Thymoma / diagnosis, Thymus Neoplasms / diagnosis, Case Reports, Female, Humans, Middle Aged, Remission Induction, Thymoma / therapy, Thymus Neoplasms / therapy, Treatment Outcome

Thymic carcinomas are extremely infrequent neoplasms (15% of all thymic epithelial tumors). Basaloid carcinoma is a peculiar tumor that represents no more than 2% of those infrequent thymic carcinomas. Surgical excision is the recommended treatment. As it's extremely rare, there is no evidence of the impact of different modalities of treatment. There are no reported cases that did not include surgery as part of their management. We herein present a case of an unresectable thymic basaloid carcinoma treated only with concurrent chemotherapy and radiotherapy that obtained a complete remission and free of disease after 2 years.
Micro-CT Imaging of Pediatric Thyroglossal Duct Cysts: A Prospective Case Series
Authors: Claire Frauenfelder, Susan C Shelmerdine, Ian C Simcock, Andrew Hall, John Ciaran Hutchinson, Michael T Ashworth, Owen J Arthurs, Colin R Butler
Journal: Front Pediatr (2021)
Keywords: diagnosis, head and neck, pathology, radiology/imaging, thyroglossal duct cyst

Objectives: To determine the feasibility of micro-CT as a high-resolution 3D imaging tool for thyroglossal duct cysts and to evaluate its role augmenting traditional histopathological examination of resected specimens. Methods: A single centre, prospective case series of consecutive children undergoing excision of a thyroglossal duct cyst was performed at a quaternary paediatric referral hospital in the United Kingdom. Consecutive children listed for excision of a thyroglossal duct cyst whose parents agreed to participate were included and there were no exclusion criteria. Results: Surgically excised thyroglossal duct cyst or remnant specimens from five patients (two males, three females) were examined using micro-CT alongside traditional histopathological examination. In all cases, micro-CT imaging was able to demonstrate 3D imaging datasets of the specimens successfully and direct radio-pathological comparisons were made (Figures 1-5, Supplementary Video 1). Conclusions: The study has shown the feasibility and utility of post-operative micro-CT imaging of thyroglossal duct cysts specimens as a visual aid to traditional histopathological examination. It better informs the pathological specimen sectioning using multi-planar reconstruction and volume rendering tools without tissue destruction. In the complex, often arborised relationship between a thyroglossal duct cyst and the hyoid, micro-CT provides valuable image plane orientation and indicates proximity of the duct to the surgical margins. This is the first case series to explore the use of micro-CT imaging for pediatric thyroglossal duct specimens and it informs future work investigating the generalizability of micro-CT imaging methods for other lesions, particularly those from the head and neck region where precisely defining margins of excision may be challenging.
A rare cause of precocious puberty: hepatoblastoma
Authors: Erdal Eren, Metin Demirkaya, Esra D Papatya Çakır, Betül Sevinir, Halil Sağlam, Ömer Tarım
Journal: J Clin Res Pediatr Endocrinol (2009)
Keywords: hepatoblastoma, puberty
MeSH terms: Hepatoblastoma / complications, Liver Neoplasms / complications, Puberty, Precocious / etiology, Case Reports, Child, Preschool, Humans, Male

Hepatoblastoma, an embryonal tumor, is one of the most common primary liver tumors in childhood. It secretes human chorionic gonadotropin (hCG), which can cause precocious puberty (PP). Herein, we present a case with PP who had enlarged penile size noticed during a diagnosis of hepatoblastoma. Laboratory examination revealed increased testosterone, alpha-fetoprotein (AFP), and hCG levels. Serum follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels were within prepubertal ranges. The diagnosis of hepatoblastoma was made by liver biopsy. Chemotherapy was administered, and the patient was referred to surgery. Ten months later, testis volumes were below 4 ml bilaterally, and penile length was 5.5 cm. Serum testosterone, AFP, and hCG levels decreased. Resection of the tumor and chemotherapy are essential for the treatment of hepatoblastoma and they can eliminate the symptoms of PP.
A rare case of radius hemimelia: a case report
Authors: Tejal Kishor Babar, Om Chandrakant Wadhokar, Mitushi Kishorrao Deshmukh
Journal: Pan Afr Med J (2022)
Keywords: hypoplastic radius, case report, hemimelia, osteotomy, physical therapy
MeSH terms: Ectromelia / diagnosis, Ectromelia / therapy, Upper Extremity Deformities, Congenital, Case Reports, Adolescent, Female, Humans, Quality of Life, Radius / surgery, Ulna / abnormalities, Ulna / surgery

Radial dysplasia congenital defect resulting in shortening of the forearm due to congenital shortening of the radius. Isidore Geoffroy Saint-Hilaire coined the term "hemimelia" around 1836-1837. Affected individuals may also have reduced limb functions abnormalities of the soft tissues, vasculature of the forearm. The management consist of splinting, stretching, and centralization. Physical therapy management plays a vital role in regaining hand function and improving quality of life. In severe cases, surgical correction such as osteotomy. Radial hemimelia is a rare disorder with 1/5000-30,000 live birth. A 16-year-old girl was admitted to Acharya Vinoba Bhave Rural Hospital (AVBRH) with complaints of weakness of the right upper limb along with a tingling sensation from the past 1 year. She was operated on with ulnar osteotomy and physical therapy management was initiated which consists of regaining mobility and strength and making the patient functionally independent. We concluded that a well structure physical therapy protocol along with medical therapy post-surgery improved the overall status of the patient.
Nutcracker Cuboid Fracture: A Case Report and Review
Authors: Alan Lucerna, James Espinosa, Nicholas Butler, Ashley Wenke, Nicole Caltabiano
Journal: Case Rep Emerg Med (2018)
MeSH terms: Case Reports

Here we report the case of a 20-year-old female restrained driver who presented to the emergency department (ED) after a motor vehicle accident. She sustained an isolated fracture of her left cuboid, consistent with a nutcracker cuboid fracture. A cuboid fracture is considered rare. It is even more uncommon for a cuboid fracture to occur in isolation, without other associated injuries to the foot. We discuss the mechanism, relevant anatomy, diagnosis, and principles of treatment of the nutcracker cuboid fracture.
Case Report: High-Definition 4K-3D Exoscope for Removal of an Orbital Cavernous Hemangioma Using a Transpalpebral Approach
Authors: Stefano Peron, Stefano Paulli, Roberto Stefini
Journal: Front Surg (2021)
Keywords: 4k-3d exoscope, navigation, orbital cavernous venous malformation, transpalpebral approach, ultrasound
MeSH terms: Case Reports

Background: Cavernous hemangioma, also known as cavernous vascular malformation (CVM), is the most common primary lesion of the orbit in adults. The management of these lesions is challenging and is strongly dependent on their location, as well as the patient's symptoms and expectations. The trans-palpebral approach is currently used in surgery for orbital tumors, anterior skull base tumors, and even more, orbital reconstruction, because of its well-demonstrated esthetic advantages. Similarly, the use of magnification can be provided by surgical loupes, microscope, or more recently, endoscope, which is well-documented for its advantages in terms of minimal invasiveness and safety. In the last years, the use of exoscopes in microsurgery has been proposed due to their greater and sharper intraoperative magnification, but never for the removal of orbital tumors. Clinical Presentation: We describe a case of a 38-year-old woman with a right orbital intraconic CVM removed using an inferior transpalpebral approach performed under 4K-3-dimensional (4K-3D) exoscopic vision. Navigation and ultrasound were also used, with the former allowing better identification of the lesion within the orbit and the second overcoming the limitations of navigation, in terms of the retraction on the ocular globe before or just after periorbital incision. Conclusion: The use of a 4K-3D exoscope allowed us to perform the surgery safely, thanks to the high magnification and definition of anatomical details, with the surgeon operating in an upright, comfortable position. The CVM was completely removed with excellent results from both functional and esthetic points of view.