Familial hypokalemic periodic paralysis: a case induced by concurrent hyperthyroidism.

BACKGROUND: Familial hypokalemic periodic paralysis (HypoPP) is an uncommon genetic disorder characterized by recurrent episodes of muscle weakness and hypokalemia, typically starting in early adulthood. The existence of hyperthyroidism in the presence of HypoPP is more strongly associated with a diagnosis of thyrotoxic periodic paralysis (TPP), with most cases occurring in Asian males with pathogenic KCNJ2 or KCNJ18 variants and without a family history of the condition. This case is novel due to the combination of familial HypoPP and hyperthyroidism induced by Graves' disease, a rare occurrence especially in non-Asian populations. CASE PRESENTATION: A 40-year-old African American man presented with profound muscle weakness after consuming a high-salt meal. He had a significant family history of hyperthyroidism and hypokalemia. On examination, he showed profound weakness in all extremities. Laboratory tests confirmed hypokalemia and hyperthyroidism, and genetic testing identified a pathogenic variant in the CACNA1S gene (c.1583 G > A, p. R528H), with normal SCN4A, KCNJ2 and KCNJ18 sequencing. He was diagnosed with familial HypoPP and hyperthyroidism due to Graves' disease. He was started on PO methimazole 10 mg three times a day and PO acetazolamide 250 mg twice a day. He was advised to follow a low carbohydrate and low salt diet. CONCLUSIONS: This case highlights the importance of considering a genetic basis for HypoPP in patients with a family history of the condition, even when hyperthyroidism is present. The combination of familial HypoPP and Graves' disease is rare and emphasizes the need for careful genetic and clinical evaluation in similar cases. Management should focus on correcting hypokalemia, treating hyperthyroidism, and lifestyle modifications to prevent recurrence.

Advances in early detection of non-small cell lung cancer: A comprehensive review.

BACKGROUND: Lung cancer has the highest mortality rate among malignancies globally. In addition, due to the growing number of smokers there is considerable concern over its growth. Early detection is an essential step towards reducing complications in this regard and helps to ensure the most effective treatment, reduce health care costs, and increase survival rates. AIMS: To define the most efficient and cost-effective method of early detection in clinical practice. MATERIALS AND METHODS: We collected the Information used to write this review by searching papers through PUBMED that were published from 2021 to 2024, mainly systematic reviews, meta-analyses and clinical-trials. We also included other older but notable papers that we found essential and valuable for understanding. RESULTS: EB-OCT has a varied sensitivity and specificity-an average of 94.3% and 89.9 for each. On the other hand, detecting biomarkers via liquid biopsy carries an average sensitivity of 91.4% for RNA molecules detection, and 97% for combined methylated DNA panels. Moreover, CTCs detection did not prove to have a significant role as a screening method due to the rarity of CTCs in the bloodstream thus the need for more blood samples and for enrichment techniques. DISCUSSION: Although low-dose CT scan (LDCT) is the current golden standard screening procedure, it is accompanied by a highly false positive rate. In comparison to other radiological screening methods, Endobronchial optical coherence tomography (EB-OCT) has shown a noticeable advantage with a significant degree of accuracy in distinguishing between subtypes of non-small cell lung cancer. Moreover, numerous biomarkers, including RNA molecules, circulating tumor cells, CTCs, and methylated DNA, have been studied in the literature. Many of these biomarkers have a specific high sensitivity and specificity, making them potential candidates for future early detection approaches. CONCLUSION: LDCT is still the golden standard and the only recommended screening procedure for its high sensitivity and specificity and proven cost-effectiveness. Nevertheless, the notable false positive results acquired during the LDCT examination caused a presumed concern, which drives researchers to investigate better screening procedures and approaches, particularly with the rise of the AI era or by combining two methods in a well-studied screening program like LDCT and liquid biopsy. we suggest conducting more clinical studies on larger populations with a clear demographical target and adopting approaches for combining one of these new methods with LDCT to decrease false-positive cases in early detection.

Primary renal mucormycosis in a type 2 diabetic patient: A case report from Syria.

Mucormycosis is an opportunistic fungal infection that primarily affects immunocompromised individuals and rarely presents as renal mucormycosis (RM). Diagnosis can be challenging for many physicians. We report a rare case of primary, unilateral RM which triggered diabetic ketoacidosis in a type 2 diabetic patient. The case was later complicated by a bronchopleural fistula and a meropenem-resistant Klebsiella infection. The patient was ultimately treated with surgical intervention, liposomal amphotericin B, and polymyxine E. Early diagnosis and timely treatment of this life-threatening disease and its complications are significant in reducing mortality.

Solitary atrial Rhabdomyoma in an infant with tuberous sclerosis: a case report and review of the literature.

BACKGROUND: Despite its rare incidence of 1/40,000, fetal cardiac rhabdomyoma (CR) represents the prevailing type of benign cardiac fetal tumors, which commonly affects the ventricles. Fetal CRs rarely occur in the right atrium. Thus, the presentation of atrial fibrillation and premature atrial contractions (PAC) due to a solitary cardiac rhabdomyoma is an extremely rare scenario. Our literature review found that only 2% (1 out of 61) of rhabdomyoma cases were found in the right atrium. The majority of fetal cardiac rhabdomyomas are associated with tuberous sclerosis complex (TSC). CASE PRESENTATION: A 7-day-old male neonate presented with arrhythmias and an atrial mass for further evaluation. Echocardiography revealed a hyperechoic, round, uniform right atrial mass (25 mm). An abdominal and testicular ultrasound showed multiple thin-walled cortical cysts in both kidneys and a scrotal hydrocele, respectively. His laboratory workup was insignificant except for hypomagnesemia. Electrocardiography revealed junctional rhythm and PACs with wave distortions. A brain magnetic resonance imaging scan revealed multiple subependymal lesions on the frontal and occipital horns of the lateral ventricles. These findings (Fig. 1), along with a family history of TSC, confirmed the diagnosis of TSC with associated CR. The patient was treated symptomatically with an anti-convulsant and monitored with regular follow-ups. Surgical resection was not required. CONCLUSION: Despite CR's predominance in the ventricles, a diagnosis of rhabdomyoma should be kept in mind in the presence of a solitary atrial mass and PACs. Physicians should evaluate systemic findings related to TSC and provide appropriate follow-up and family screening. Surgical resection is not always required, and symptom management can be achieved through medical treatment alone.

Novel immunotherapeutic options for BCG-unresponsive high-risk non-muscle-invasive bladder cancer.

BACKGROUND: High-risk non-muscle-invasive bladder cancer (HR-NMIBC) presents a challenge to many physicians due to its ability to resist Bacillus Calmette-Guérin (BCG) intravesical therapy and the substantial rate of progression into muscle-invasive bladder cancer (MIBC). Patients who are BCG-unresponsive have worse prognosis and thus require further management including radical cystectomy (RC), which significantly impacts quality of life. Moreover, the ongoing worldwide shortage of BCG warrants the need for policies that prioritize drug use and utilize alternative treatment strategies. Hence, there is a significant unmet need for bladder preserving therapy in this subset of patients. METHODS: To address this issue, we searched the relevant literature in PUBMED for articles published from 2019 through May of 2023 using appropriate keywords. All clinical trials of patients with HR-NMIBC treated with immune-related agents were retrieved from clinicaltrials.gov. FINDINGS AND FUTURE PERSPECTIVES: Exploratory treatments for BCG-Unresponsive HR-NMIBC included immune checkpoint inhibitors (ICI), oncolytic viral therapy, cytokine agonists, and other immunomodulators targeting TLR, EpCaM, FGFR, MetAP2, and IDO1. Some combination therapies have been found to work synergistically and are preferred therapeutically over monotherapy. Three drugs-pembrolizumab, valrubicin, and most recently, nadofaragene firadenovec-vncg-have been FDA approved for the treatment of BCG-unresponsive NMIBC in patients who are ineligible for or decline RC. However, all explored treatment options tend to postpone RC rather than provide long-term disease control. Additional combination strategies need to be studied to enhance the effects of immunotherapy. Despite the challenges faced in finding effective therapies, many potential treatments are currently under investigation. Addressing the landscape of biomarkers, mechanisms of progression, BCG resistance, and trial design challenges in HR-NMIBC is essential for the discovery of new targets and the development of effective treatments.

Rare giant renal artery aneurysm in neurofibromatosis type 1 patient: a case report.

Introduction and importance: Neurofibromatosis type 1 (NF1) is a genetic disorder characterised by multiple neurofibromas, café-au-lait spots, and iris hamartomas. The variety of vasculopathies that can occur in NF1 make it difficult for clinicians to accurately follow-up patients. Most cases of vasculopathies are stenotic, and, in few cases, aneurysms may form. Case presentation: A 35-year-old male presented with extreme left flank pain for the past 2 days. His physical examination revealed whole-body several café-au-lait skin macules, a subcutaneous lesion, and a palpable abdominal mass in the left flank. His laboratory workup was within normal ranges. A multi-slice computed tomography and computed tomography angiogram with contrast outlined a giant left renal artery aneurysm (RAA). A kidney salvage surgery was planned. However, due to ectatic dilatation and large extension of the aneurysm, the affected renal artery branches and renal vein were found unfit for auto-transplantation during the surgical procedure and a total nephrectomy was necessary. Symptoms improved significantly postoperatively and no complications developed. Clinical discussion: RAA is an uncommon finding in NF1 patients. Diagnosis is often dependent on computed tomography angiogram. Management techniques are conservative, endovascular, or surgical. In few surgical cases, a total nephrectomy may be necessary if auto-transplantation is not feasible. Conclusion: Despite its rarity, the diagnosis of RAA should be considered in patients with NF1 presenting with flank pain. Moreover, early screening for renal vasculopathies can evade critical surgical outcomes including a total nephrectomy. Hence, the authors recommend a total vascular workup for these patients, consisting of doppler ultrasound and, if necessary, a multi-slice computed tomography with contrast.

Plasma cell leukemia in a 34-year-old male: rare scenario case report.

Introduction: Plasma cell leukaemia is an uncommon plasma cell dyscrasia with a very poor prognosis. It is more common among males and usually presents between 55 and 65 years of age. Case presentation: A 34-year-old male presented to Al-Assad hospital with unremitting back pain. He was given analgesics but his pain was unresponsive to treatment, and due to the COVID-19 pandemic, he refused a computed tomography scan in the hospital. Later that year, he presented again with weight loss, nausea, abdominal pain, melena, and ascites. He was pale with a moderately distended abdomen. Laboratory tests revealed anaemia, thrombocytopenia, hypercalcemia, increased total proteins, and elevated lactate dehydrogenase. Flow cytometry findings of the bone marrow aspirate showed the presence of 30% of plasma cells, positive for CD38, CD56, and kappa light chains. He was diagnosed with secondary plasma cell leukaemia and started on chemotherapy; however, he could not continue his treatment due to myeloid inhibition. He passed away 5 months later. Clinical discussion: Multiple myeloma was not suspected in the patient due to his young age. The diagnosis was delayed even further due to the COVID-19 pandemic. His multiple myeloma progressed into secondary plasma cell leukaemia and had uncommon features like small intestinal polyps. Even though there has been groundbreaking advancements in chemotherapy, plasma cell leukaemia still possesses a fatal prognosis. Conclusion: This report showcases a rare age presentation with unique manifestations of secondary plasma cell leukaemia. Multiple myeloma should be a differential diagnosis for cases with unexplained back pain despite an unclassical age.

Median arcuate ligament syndrome in an old male: a case report with 3-year follow-up.

Introduction and importance: Median arcuate ligament syndrome (MALS) or Dunbar syndrome is a rare compression syndrome that poses a challenge to many clinicians due to its ambiguous symptoms. It is predominantly common in females in their 30s to 50s. Case presentation: A 74-year-old male presented with generalized chronic postprandial abdominal pain, anorexia, and weight loss of 6 kg for the past 2 months. Physical examination, abdominal ultrasound, endoscopy, and colonoscopy were all unremarkable. His laboratory workup and tumor marker tests were within normal ranges. Finally, a multi-slice computed tomography (MSCT), an advanced computed tomography with multiple detectors resulting in faster and higher resolution imaging, outlined external compression on the celiac artery (CA) by the median arcuate ligament (MAL). The release of the CA from the MAL was done laparoscopically. Symptoms improved significantly postoperatively. During the follow-up period of 3 years, the patient did not regain his lost weight but had no other complaints. Clinical discussion: Due to its vague manifestations, MALS is diagnosed only after extensive evaluation and exclusion. This challenging diagnosis outlines the need for refined diagnostic guidelines. An MSCT plays a crucial role in confirming the diagnosis. Currently, more physicians prefer laparoscopic release of the MAL compared to an open approach. Conclusion: Despite MALS predominance in females, the diagnosis of MALS should be considered in males with postprandial abdominal pain and unexplained weight loss. An MSCT, along with other imaging modalities, can provide a comprehensive view of celiac compression. Laparoscopic decompression of the CA is an ideal treatment option.