BackgroundProximal tibiofibular joint instability (PTJI) is a rare condition, particularly in total knee arthroplasty (TKA) revision, with only one prior case reported. This case highlights the importance of considering PTJI in patients with chronic lateral knee pain and instability following TKA and demonstrates a novel stabilization approach for managing this challenging condition.Case DescriptionA 73-year-old female with a history of multiple knee surgeries presented to our clinic due to increasing lateral knee pain radiating along the syndesmosis, aggravated by activities like squatting. Clinical examination revealed anteroposterior subluxation of the fibular head, suggesting PTJI. Radiological findings confirmed tibial component loosening, and the diagnosis of aseptic loosening with PTJI was made. Given her complex surgical history, a two-stage revision was planned. The first stage involved prosthesis removal, bacteriological sampling, and spacer placement. The second stage included revision TKA and proximal tibiofibular joint (PTFJ) stabilization using a Twin Tail Tight-Rope™ system and Arthrex endobutton, preserving joint mobility and restoring functional stability. A hinged revision knee prosthesis was then implanted. The patient had an uneventful recovery. At 1-year follow-up, the pain score was 1/10 and she achieved good mobility. Radiographs showed satisfactory implant positioning. The Western Ontario and McMaster Universities Arthritis Index (WOMAC) score of 15/96 indicated a successful outcome.Conclusions PTJI is rare and is not typically associated with TKA. This case report highlights a unique presentation of PTJI in a multi-revised TKA, raising concerns about the potential role of repeated proximal tibial resections in ligamentous instability of the PTFJ. The specific localization of pain and its resolution following PTFJ fixation support this hypothesis. Therefore, careful assessment of the PTFJ should be considered in TKA revisions, particularly in cases involving extensive lateral tibial resections.

BackgroundCongenital nephrotic syndrome of the Finnish type (CNF) is an autosomal recessive disorder resulting from mutations in the NPHS1 gene, which encodes nephrin, an essential protein in the podocyte slit diaphragm. Pathogenic mutations of NPHS1 cause substantial proteinuria detectable at birth. Variants of uncertain significance (VUS) are recognized mutations, but their effects on health are not yet understood. This uncertainty makes it challenging to identify specific types of VUS that may contribute to disease development. The association of CNF with NPHS1 VUS remains unclear.Case DescriptionWe describe the salient features of a newborn with CNF and multiple fetal anomalies based on clinical risk factors discovered by ultrasound (US) and X-rays, which include cardiomegaly, polycystic kidney disease, and renal dysplasia. Biochemical tests showed substantial proteinuria and excess protein in the urine detected at birth; this condition caused albuminuria, hypoalbuminemia, edema, and additional symptoms. The patient underwent treatment to reduce the risks of proteinuria, hypertension, infection, and other symptoms. The next generation sequencing (NGS) analysis revealed that the infant had five previously unreported heterozygous missense variants classified as VUS in NPHS1, NUP160, ALG1, and CRB2. The NPHS1 c.2150A>G and CRB2 c.1654G>T may lead to defects in the CTCF (CCCTC binding factor) and exonic splicing enhancer (ESE) motifs, respectively, which could account for the observed clinical features in the newborn.ConclusionsThe infant’s illness may be related to changes in exonic splicing caused by NPHS1-VUS and CRB2-VUS. NPHS1 encodes the nephrin protein, which is crucial for the slit diaphragm of podocytes, while CRB2 is essential for slit diaphragm formation and is linked to cystic kidney disease.

BackgroundAcute pancreatitis (AP) is a condition with varying severity, ranging from mild to severe, each presenting different prognostic outcomes. Accurate and early assessment of AP severity is crucial for determining appropriate treatment and management. Traditionally, the severity of AP has been evaluated using clinical criteria or imaging, but discrepancies between these assessments can complicate clinical decision-making.Case DescriptionThis case report presents two patients with AP, where a mismatch was observed between clinical and imaging severity assessments. In the first case, laboratory tests suggested mild AP, while computed tomography (CT) imaging indicated severe pathology. In contrast, the second case showed severe AP according to the Acute Physiology and Chronic Health Evaluation II (APACHE II) score, but the CT imaging only revealed mild findings. This clinical-CT mismatch highlights the need for a comprehensive approach to evaluating AP severity, rather than relying on a single assessment method.ConclusionsThe report introduces the concept of clinical-CT mismatch in the assessment of AP. It emphasizes the importance of integrating clinical scores, such as APACHE II, with imaging findings to provide a more accurate and reliable evaluation of severity. By doing so, clinicians can enhance decision-making and improve management strategies for AP.

BackgroundSinoatrial nodal reentrant tachycardia (SANRT) is a rare form of focal atrial tachycardia, often linked with structural or congenital heart disease. Due to its electrocardiographic similarities with other supraventricular tachyarrhythmias, it is frequently misdiagnosed. Understanding its clinical presentation and effective management strategies is crucial for appropriate patient care.Case DescriptionWe present a case of a 45-year-old female with severe pulmonary hypertension and obstructive sleep apnea who was admitted with progressive palpitations, chest pain, and dyspnea. Initial electrocardiographic evaluation suggested atrial fibrillation with rapid ventricular response (RVR), leading to treatment with metoprolol and amiodarone. However, the tachyarrhythmia persisted, and further investigation revealed features suggestive of SANRT. The diagnosis was confirmed by telemetry findings demonstrating atrial tachycardia with a prolonged PR interval, terminating abruptly after carotid sinus massage (CSM). This immediate response to vagal stimulation solidified the diagnosis of SANRT. The patient was managed conservatively with vagal maneuver training and discharged on oral bisoprolol.ConclusionsThis case highlights the diagnostic challenges associated with SANRT and emphasizes the role of CSM as both a diagnostic and therapeutic intervention. Early recognition of SANRT is crucial, as it can mimic other supraventricular arrhythmias, leading to mismanagement. While electrophysiological studies remain the gold standard for diagnosis, non-invasive measures such as vagal maneuvers can be highly effective in terminating the arrhythmia and providing symptomatic relief.

BackgroundPulmonary mucormycosis (PM) is an acute suppurative lung disease caused by any fungus in the order Mucorales. PM is characterized by its propensity for vascular invasion, rapid progression, and destructiveness, leading to a high mortality rate.Case DescriptionA 39-year-old male patient was diagnosed with PM and complicated by bronchial obstruction. Although surgical debridement of mucormycosis and antifungal therapy are generally preferred treatment, our patient presented with a high burden of invasive disease and was deemed ineligible for surgery. We therefore had to compromise and palliate his bronchial obstruction with a bronchial stent while continuing intravenous, nebulized, and bronchoscopically applied antifungals. The intervention markedly alleviated the patient’s symptoms of chest tightness and dyspnea. However, given the advanced stage at presentation, the prognosis was already poor. Despite these measures, the aggressive underlying infection continued to progress, ultimately leading to erosion into a major vessel and catastrophic hemoptysis.ConclusionsThe implantation of bronchial stents in patients with PM can effectively alleviate severe bronchial obstruction caused by mucormycosis infection, improve pus drainage, and promote infection resolution. However, as a complete surgical resection of the lesion was not performed, the patient remains at risk of potentially catastrophic hemoptysis due to the possibility of pulmonary vascular invasion by mucormycosis. The potential increase in hemoptysis risk associated with stent implantation warrants further investigation.

BackgroundIncident development of Raynaud phenomenon (RP) in older adults raises concern for secondary etiologies. Malignancy is an important, yet underrecognized, cause of RP. In particular, paraneoplastic acral vascular syndrome (PAVS) describes a spectrum of secondary vascular disorders including RP and has been described in a variety of malignancies. However, presentations with squamous cell histology are uncommon, particularly in the esophagus.Case DescriptionA 61-year-old Caucasian male with a history of alcohol use disorder, hypertension, and hyperlipidemia presented with 3 months of progressive dysphagia and digital ischemia. RP had developed concomitantly with dysphagia and progressed to digital ischemia prior to admission. Evaluation for rheumatologic causes of secondary RP was notable for positive antinuclear antigen with high titer. Cross-sectional imaging for evaluation of occult malignancy revealed circumferential thickening of the distal esophagus with upper abdominal lymphadenopathy. Endoscopic evaluation identified a large ulcerating mass in the distal esophagus and pathology confirmed squamous cell carcinoma (SCC). These findings resulted in a diagnosis of metastatic esophageal SCC with paraneoplastic RP.ConclusionsAlthough paraneoplastic RP occurs most often in cases of adenocarcinoma, this case highlights the importance of considering malignancy in the evaluation of secondary RP even with underlying squamous cell histology.

Pregnancy- and lactation-related osteoporosis (PLO) is a rare condition of skeletal fragility affecting women during late pregnancy and early lactation. Patients with PLO who experience multiple, rapid-onset vertebral fractures and develop kyphosis face a poorer prognosis when diagnosis and treatment are delayed. Since there is no standard treatment protocol for patients with PLO, treatment should be individually planned. Recently, romosozumab has been recognized as one of the most effective drugs for treating patients with severe osteoporosis. Because it can dramatically increase bone mineral density (BMD) in a short period in postmenopausal women with osteoporosis, it is useful for treating patients with rapidly progressive osteoporosis at a high risk of fracture. Here, we report a case of PLO associated with multiple vertebral fractures treated with romosozumab. To the best of our knowledge, this is the first report on the use of romosozumab alone for PLO. A middle-aged postpartum and lactating woman experienced back pain at 9 months of pregnancy, which worsened after delivery. PLO was diagnosed based on multiple thoracic vertebral and sacral fragility fractures and low BMD. She was treated with romosozumab, and her back pain gradually subsided. After 12 months of romosozumab treatment, her lumbar spine BMD increased by 22.1% from baseline, and no further fractures occurred. Twelve months of romosozumab treatment successfully improved the clinical condition of the patient with severe PLO, resulting in a remarkable increase in BMD.

BackgroundIt is known that subclinical hypothyroidism (SCH) often converts to euthyroidism. However, the mechanism of such changes is unclear and can only be speculated. This difficulty is likely due to limitations in diagnostic guidelines and their interpretation. Therefore, in the presented case, important diagnostic criteria that can improve understanding of the essence and pathogenesis of primary hypothyroidism are shown and explained.Case DescriptionA 15-year-old female patient experienced a transition from SCH to euthyroidism against the background of highly normal values of thyroid hormones, the full state of the thyroid parenchyma and significantly increased blood flow in the Doppler mode. She did not take medications. Conditions likely to trigger SCH included acute respiratory illness, living in a cold climate, and mental stress due to prolonged preparation for exams. The transition to euthyroidism occurred after sufficient stay in the conditions of a southern resort in the summer and mental comfort.ConclusionsAs a result, it was revealed that the amount of thyroid-stimulating hormone (TSH) depends on the intensity of energy expenditure of the body in accordance with living conditions. The increased intensity of blood flow in the thyroid during SCH and euthyroidism shows the leading role of the autonomic nervous system and the auxiliary importance of TSH. The concentration of thyroid hormones at the maximum limit of normal in SCH, together with the significantly increased Doppler blood flow, suggests common elements of pathogenesis with Graves’ disease through the autonomic nervous system. With many months of thyroid overstrain, ultrasound shows signs of corresponding depletion in the form of hypoechogenicity of the lobules, but the preservation of a sufficient amount of hormone-producing tissue.

The theophylline toxidrome presents with multisystemic involvement that includes cardiovascular, neurologic, metabolic, musculoskeletal, and gastrointestinal manifestations. Considering such a varied spectrum of presentations, it is often difficult to ascertain the diagnosis of this particular toxidrome. Review of home medications is an important step when working with a patient presenting as a toxidrome. The case report is about a 69-year-old female patient who was brought to the emergency room in status epilepticus and atrial fibrillation with rapid ventricular response. She had a prolonged state of drowsiness following an initial antiepileptic therapy and a toxicologic screen positive for toxic levels of theophylline at 59.7 mcg/mL. Emergent dialysis was performed leading to improvement of her overall clinical status. We suspect the patient had built up toxic levels of theophylline due to evolving drug interactions after she discontinued many of her routine home medications following her husband's death. Theophylline is a methylxanthine derivative medication that is used sparingly in the treatment of airway diseases. It has become less favorable over the years due to its narrow therapeutic index and potential for development of toxicity. Monitoring serum drug levels and adjusting the dose frequently to maintain a therapeutic range is essential to prevent toxicity related to theophylline. There is emerging evidence that the drug might have anti-inflammatory properties to aid in treating many chronic airway disorders and pharmacovigilance is necessary for its continued use.

BackgroundPulmonary epithelioid hemangioendothelioma (P-EHE) is a rare vascular tumor derived from mesenchymal cells with an incidence of about 1/1 million. The etiology remains unclear, and there are no established treatment guidelines. The tumor can occur in a variety of organs, among which the liver, lung and bone are the most commonly involved, with different clinical manifestations, mainly depending on the organ involved, but none of them is specific. Most epithelioid hemangioendotheliomas are indolent and can achieve long-term survival even without any treatment. The prognosis of patients with primary liver or lung diseases is poor, and P-EHE has the highest mortality rate. Clinical reports of airway stenosis caused by P-EHE are exceedingly rare.Case DescriptionWe report a case of a middle-aged female patient with initial diagnostic difficulties leading to misdiagnosis, which was eventually confirmed as P-EHE by pathology. Despite radiotherapy, chemotherapy, and antiangiogenic therapy, the efficacy was limited, resulting in severe airway stenosis in the advanced stage of the disease, with severe clinical symptoms. After bronchoscopic cryoablation, the oxygenation index of the patient was significantly improved, and the quality of life was significantly improved.ConclusionsThis case underscores the complexity of diagnosing and managing P-EHE and illustrates the potential of cryoablation as an effective treatment for severe airway stenosis secondary to this rare tumor.