Systematic Review of the Clinical Characteristics and Management of Isaac Syndrome.

OBJECTIVES: Isaac syndrome (IS) is a condition characterized by peripheral nerve hyperexcitability caused by voltage-gated potassium channel (VGKC)-complex antibodies. Muscle twitching, stiffness, hypertrophy, and dysautonomic characteristics, such as hyperhidrosis, are common manifestations. The syndrome can be autoimmune or paraneoplastic, with thymoma being a common cause of paraneoplastic IS. Furthermore, this condition could be handed down from one generation to another. However, there is limited information regarding outcomes, relapses, associated syndromes, associated malignancies (other than thymoma), and treatment options. Despite its rarity, there remains a need for effective management strategies for patients with IS. To address this gap, we conducted a systematic review to summarize the most common and effective treatments of IS in immunomodulatory agents and symptomatic medications, as well as to describe outcomes, relapses, and associated malignancies. Altogether, this review serves to guide clinical practice recommendations for IS and highlight areas for further research. METHODS: We used the Preferred Reporting Items for Systematic Reviews and Meta-Analyses protocol to conduct a systematic review of cases reposted through the PubMed and Google Scholar databases. The terms "Isaac Syndrome" and "Acquired Neuromyotonia" were used. The Joanna Briggs Institute's critical appraisal tool was used to evaluate the quality of the included studies. RESULTS: We identified 61 case reports and 4 case series, comprising a total of 70 patients with IS (mean age at onset: 42.5 ± 18 years, and 69% were males). Fourteen cases reported relapses. Thymoma was the most common malignancy associated with IS, followed by lymphoma. Among various serum antibodies, voltage-gated potassium channel-complex antibodies were the most reported antibodies elevated in IS (reported in 38 patients and elevated in 21 patients [55.2%]), followed by acetylcholine ganglionic receptor antibodies, which were reported in 30% of patients (n = 21) and were elevated in 5 cases. The most common electromyography findings were myokymic discharges (n = 22), followed by fasciculations (n = 21) and neuromyotonia (n = 19). For treatment, combining anticonvulsants such as carbamazepine with immunotherapy therapy showed the best results in controlling the symptoms. Among immunotherapy therapies, the combination of plasma exchange plus intravenous high-dose steroids achieved the best results in the acute treatment of IS ([n = 6], with improvement noted in 83.3% [n = 5] of cases). Among the symptomatic treatments with anticonvulsants, carbamazepine was the most efficacious anticonvulsant in treatment of IS, with an average effective dosing of 480 mg/day (carbamazepine was used in 32.3% of acute treatment strategies [n = 23], with improvement noted in 73.9% [n = 17] of cases). CONCLUSIONS: IS a rare neuromuscular syndrome that tends to affect middle-aged men. These patients should be screened for thymoma and other malignancies such as lymphomas. The management of IS symptoms can be challenging, but based on our review, the combination of multiple immunosuppressives such as IV steroids and plasmapheresis with anticonvulsants such as carbamazepine seems to achieve the best results.

Clinical and Radiological Features of Menetrier's Disease: A Case Report and Review of the Literature.

We present a case report describing the diagnosis and management of a patient who presents with a rare diagnosis of Menetrier's disease. This condition poses a diagnostic challenge to clinicians due to its nonspecific clinical presentation and is oftentimes misdiagnosed for more common gastric disorders. Menetrier's disease is characterized by gastric mucosal hypertrophy and subsequent protein loss, resulting in gastric symptoms and widespread edema. While the etiology remains unclear, notable associations have been observed with Helicobacter pylori (H. pylori) infection and overexpression of transforming growth factor-alpha (TGF-a). The management often involves supportive measures with medical and surgical interventions for refractory cases and when necessary. This report includes a comprehensive review of the literature on the clinical presentation, diagnostic approach, and management of this rare disease. By documenting such cases in the medical literature, we aim to enhance the clinician's ability to recognize and manage this disorder, thereby preventing the development of more severe manifestations such as gastric carcinoma.

Glioblastoma in pregnant patient with pathologic and exogenous sex hormone exposure and family history of high-grade glioma: A case report and review of the literature.

Background: Glioblastoma (GBM) incidence is higher in males, suggesting sex hormones may influence GBM tumorigenesis. Patients with GBM and altered sex hormone states could offer insight into a relationship between the two. Most GBMs arise sporadically and heritable genetic influence on GBM development is poorly understood, but reports describing familial GBM suggest genetic predispositions exist. However, no existing reports examine GBM development in context of both supraphysiologic sex hormone states and familial predisposition for GBM. We present a case of isocitrate dehydrogenase (IDH)-wild type GBM in a young pregnant female with polycystic ovary syndrome (PCOS), history of in vitro fertilization (IVF), and significant family history of GBM and further discuss how unique sex hormone states and genetics may affect GBM development or progression. Case Description: A 35-year-old pregnant female with PCOS and recent history of IVF treatment and frozen embryo transfer presented with seizure and headache. Imaging revealed a right frontal brain mass. Molecular and histopathological analysis of the resected tumor supported a diagnosis of IDH-wild type GBM. The patient's family medical history was significant for GBM. Current literature indicates testosterone promotes GBM cell proliferation, while estrogen and progesterone effects vary with receptor subtype and hormone concentration, respectively. Conclusion: Sex hormones and genetics likely exert influence on GBM development and progression that may compound with concurrence. Here, we describe a unique case of GBM in a young pregnant patient with a family history of glioma and atypical sex hormone exposure due to endocrine disorder and pregnancy assisted by exogenous IVF hormone administration.

Radiological Diagnosis and Surgical Treatment of Gallstone Ileus.

We report on the diagnosis and treatment of a patient who presented with a small bowel obstruction due to gallstone ileus. This condition is an infrequent complication of cholelithiasis that presents with non-specific and intermittent findings, including bloating, early satiety, constipation, nausea, and vomiting. Contrast-enhanced CT features the classic imaging finding, called Rigler's triad, which includes small bowel distension, gas in the gallbladder, and an ectopic gallstone. Laparoscopic enterolithotomy is employed to prevent further erosion through the gallbladder wall and into the adjacent gastrointestinal structures. The early diagnosis and treatment of gallstone ileus results in decreased morbidity and mortality.

Heterometallic Actinide-Containing Photoresponsive Metal-Organic Frameworks: Dynamic and Static Tuning of Electronic Properties.

Acquiring fundamental knowledge of properties of actinide-based materials is a necessary step to create new possibilities for addressing the current challenges in the nuclear energy and nuclear waste sectors. In this report, we established a photophysics-electronics correlation for actinide-containing metal-organic frameworks (An-MOFs) as a function of excitation wavelength, for the first time. A stepwise approach for dynamically modulating electronic properties was applied for the first time towards actinide-based heterometallic MOFs through integration of photochromic linkers. Optical cycling, modeling of density of states near the Fermi edge, conductivity measurements, and photoisomerization kinetics were employed to shed light on the process of tailoring optoelectronic properties of An-MOFs. Furthermore, the first photochromic MOF-based field-effect transistor, in which the field-effect response could be changed through light exposure, was constructed. As a demonstration, the change in current upon light exposure was sufficient to operate a two-LED fail-safe indicator circuit.