A 37-year-old woman, who had been healthy and had no symptoms, was diagnosed with Fabry’s disease (FD) , passed on by her mother, in 20XX-1, and came to our hospital after a negative T wave was found in her physical examination in 20XX. Echocardiography revealed a left ventricular ejection fraction of 72%, an interventricular septal wall thickness (I VS) of 10 mm, a posterior left ventricular wall thickness (PW) of 9 mm, and a cardiac MRI that showed no delayed contrast, but a deletion mutation in the GLA gene, the same as that in her mother, leading to the diagnosis of FD. Echocardiographic measurements of left ventricular wall thickness showed no evidence of left ventricular hypertrophy, but the left ventricular relative wall thickness (RWT) was 0.43, indicating relative left ventricular hypertrophy, and enzyme replacement therapy was introduced early. After 6 months of treatment, the RWT was 0.57, but the RWT was rechecked every 6 months, and the left ventricular hypertrophy gradually improved to 0.52, 0.51, and 0.47; the the progress was good.

According to the guidelines for the treatment of cardiomyopathy, hypertrophic cardiomyopathy should be suspected when the left ventricular wall thickness is greater than 13 mm. Of these patients, 5 -10 % have secondary cardiomyopathy, with FD being the most frequent. It is well known that among FD patients with only mild left ventricular hypertrophy, those diagnosed relatively early without delayed contrast on cardiac magnetic resonance imaging can have improved left ventricular wall thickness with enzyme replacement therapy. We report here a review of the literature on the use of RWT to evaluate left ventricular hypertrophy in patients with very early-stage FD.

Introduction: It is estimated that 6.3 million femur fractures (FF) a year will occur worldwide by 2050. This stipulation is alarming for the field of orthopedic surgery, since treatment often suggests surgical correction. Therefore, it is important to understand the epidemiological distribution of this condition to know how to deal with it efficiently. Methods: This study performed adescriptive cross-sectional study using secondary data from the DATASUS platform of the Brazilian Ministry of Health. The data refer to the Brazilian population between 2013 and 2023, and the number of hospitalizations, age group, and sex were analyzed as variables. Results: Over the decade analyzed, a total of 1,161,022 hospitalizations due to FF were observed. Among the distribution by age groups, four groups stood out the most: 80 years or older with 309,632 hospitalizations, 70 to 79 years with 207,009, 20 to 29 years with 132,435 and 60 to 69 years with 131,770. The other age groups presented absolute numbers below 100,000 hospitalizations. Between the ages of 0 and 59 years, there was a male prevalence of cases (73.69%), while among people aged 60 years or older there was a female prevalence (68.17%). Conclusions: Notably, there was a difference between the number of hospitalizations according to the age and sex of the population. Regarding age, the results are in agreement with the current literature, which describes that elderly people are more prone to FF, often as a secondary consequence leading to bone fragility. Regarding gender, it is described in the literature that women are more likely to be affected by FF, expressing a total number 2.17 times higher than men. Therefore, the need for approaches that pay attention to this population profile is evident, as well the production of new studies around the subject.

Abstract

Background: Limb–girdle muscular dystrophy type 2 (LGMD2) is a group of rare, slowly progressive disorders with distinct hereditary and clinical features. LGMD2E is characterized by heart dysrhythmias, late-onset cardiomyopathy, progressive skeletal myopathy, and contractures in the neck, elbows, and ankles. This case study examines a 40-year-old female diagnosed with autosomal recessive LGMD2, presenting with exertional dyspnea, fatigue, episodes of syncope, progressive proximal muscle weakness in all four limbs, and persistent bilateral pedal oedema. Diagnostic evaluations revealed a myopathic pattern on electromyography, biopsy-confirmed muscular dystrophy, bradycardia on ECG, and an ejection fraction of 59% on 2D echocardiography. Aim: Our aim was to evaluate the impact of aerobic exercises on functional outcomes in a patient with LGMD2.Methodology: Outcome measures included the Modified Medical Research Council (MMRC) scale, Multidimensional Fatigue Scale (MFS), chest expansion (using a tape measure), and the Muscular Dystrophy Rating Scale. The Modified Borg Scale was used to assess perceived exertion during exercise testing. A four-week physical therapy intervention focused on improving aerobic capacity, reducing fatigue, increasing lung expansion, strengthening muscles, and enhancing functional status. Results: After four weeks, the patient demonstrated significant improvements in all outcome measures, including reduced fatigue levels, increased chest expansion, and enhanced functional status. These results indicate that the intervention effectively improved aerobic capacity and overall quality of life in this patient. Conclusion: Aerobic exercises are a safe and effective intervention for managing functional limitations in patients with LGMD2. Early screening and intervention are crucial to address cardiac complications, such as bradycardia, atrial fibrillation, and ventricular dysrhythmias, which are commonly associated with this condition. Further studies are recommended to validate these findings across a broader patient population.

Torticollis is a postural malformation of the head and neck that can be congenital or acquired. It typically results from trauma, inflammation, psychogenic causes, or neoplastic conditions and is most commonly due to unilateral fibrosis and shortening of the sternocleidomastoid (SCM) muscle. Improper positioning of neonates can lead to malformations in their bones and muscles, hinder brain development, and cause abnormal neurological symptoms. Preterm infants tend to have delayed motor development and poorer self-regulation compared to full-term infants. Insufficient postural support and a lack of positional variation can lead to developmental issues. Positional torticollis occurs when the SCM is neither tight nor formed as a mass. Common treatments for torticollis involve passive stretching, guidance on handling, strengthening the neck muscles, and encouraging an active cervical range of motion. This retrospective case study examines a 4-month-old baby with positional torticollis who received various physiotherapy exercises over 15 days. The baby's progress was monitored using a clinical head control scale and the Cheng–Tang torticollis scale, with photos taken periodically to track changes. After 15 days, significant improvements in neck movement and head control were observed. This study focused on combining head control exercises with passive stretching, which led to notable improvements in the baby’s head control, cervical range of motion, and overall neurodevelopmental progress.

Background: Degeneration with continuous mechanical load on the shoulder leads to inflammation and vascular disruption of the rotator cuff tendons. With eccentric strengthening, a sufficient load is placed on the inflamed tendon, re-initiating collagen remodelling and neo-vascularization, while mobilization will correct the positional faults and improve joint play. With these benefits in consideration, determining whether a combination of eccentric strengthening and acromioclavicular joint mobilization can further help in pain reduction and improve function is the purpose of the present case study.

Methods: A case of a 60-year-old female with recurrent rotator cuff tendinopathy presented with the complains of right shoulder pain associated with difficulty in overhead functional activities, painful shoulder flexion, abduction and external rotation. The outcome measures taken were pain intensity as measured using the Numerical Pain Rating Score, shoulder pain measured on a Universal Goniometer and shoulder disability measured using theShoulder Pain and Disability Index score. Eccentric strengthening exercises involving the rotator cuff muscle were given along with acromioclavicular joint Grade 1 mobilization and scapula retraction exercises for 3 weeks, 5 days per week.

Results: The pain intensity reduced from 6/10 to 2/10 post-treatement, as measured on NPRS. The shoulder flexion, abduction and external rotation ranges improved from 80°, 80° and, 70° to 100°, 95° and 80°, respectively. The pre-measurement of shoulder disability on SPADI was 86/130, which reduced to 51/130 post-treatment.

Conclusion: Acromioclavicular joint grade 1 mobilization combined with eccentric strengthening of the rotator cuff muscle is effective in reducing pain, improving shoulder ROM and reducing shoulder disability.

Title-

'A rare case of primary pulmonary neuroendocrine tumor presenting with Cushing syndrome'

*Background*
Cushing syndrome is a rare endocrine disorder caused by excess cortisol production, leading to various clinical manifestations. Primary pulmonary neuroendocrine tumors (PNETs) are uncommon causes of ectopic Cushing syndrome, accounting for only 1-5% of all PNETs.

*Case Presentation*
We report a rare case of a 45-year-old female presenting with a 6-month history of weight gain, hypertension, and hyperglycemia. Physical examination revealed moon facies, buffalo hump, and purple striae. Laboratory tests confirmed hypercortisolism, with elevated 24 hour urine free cortisol and midnight cortisol levels. Imaging studies revealed a 3.5 cm right hilar mass. Histopathological examination and immunohistochemistry confirmed a primary pulmonary neuroendocrine tumor (PNET) of intermediate grade.

*Management and Outcome*
The patient underwent successful surgical resection of the tumor via a right upper lobectomy. Postoperative cortisol levels normalized, and Cushingoid features resolved. The patient remains disease-free at 12-month follow-up.

*Conclusion*
This case highlights the rare association between primary pulmonary neuroendocrine tumors and Cushing syndrome. Early recognition and surgical intervention can lead to successful management of this rare condition. This report contributes to the limited literature on this topic and emphasizes the importance of considering PNETs in the differential diagnosis of ectopic Cushing syndrome.

Introduction:

Coronary artery disease remains a leading cause of morbidity and mortality worldwide, driven by atherosclerotic plaque formation that narrows or blocks coronary arteries, manifesting across a spectrum, from asymptomatic stages to life-threatening acute coronary syndromes, including myocardial infarction. Can it be identified by understanding and recognizing heart arrythmias, such as premature ventricular or atrial complexes or sinus bradycardia?

Methods:

We present the case of a 79-years-old male with important cardiovascular comorbidities who presented to our clinic for shortness of breath on exertion and fatigue during low intensity efforts. Upon closer examination using indispensable tools such as ECG and ECG Holter monitoring, supraventricular ectopic beats (atrial bigeminy from the right superior pulmonary vein, predominantly) and non-sustained ventricular tachycardia on a bradycardic rhythm were diagnosed, in spite of maximal and optimal anti-ischemic treatment. In addition, a mild reduced left ventricular ejection fraction was assessed. The location of ventricular arrhythmias points to the right coronary artery. By correlating clinical judgement with these data, severe underlying coronary artery disease was suspected and subsequently confirmed by coronary angiography, which showed triple vessels disease with a 50% stenosis of the left main due to the chronic lesions. The following question was asked: should the patient benefit from PCI or CABG?

Conclusions:

Although heart ischemia can embody a large spectrum of clinical (excluding angina) and paraclinical manifestations, heart arrhythmias often accompany or expose underlying coronary artery disease. It is fundamental for the clinician to understand the substrate and the site of arrhythmias, in order to appropriately asses and solve the medical puzzle.

Introduction: Eisenmenger syndrome is a severe complication of adult congenital heart defects, particularly those involving communication between the heart chambers or large vessels, and typically develops between 20 and 30 years old if the defect remains untreated.

Methods: We present the case of a 47-year-old patient, a smoker, a chronic ethanol abuser, hypertensive, and non-compliant to therapy, arriving at the emergency room due to right anterior epistaxis and symptomatic elevated blood pressure values (220/120 mm Hg). The patient stated that he had noticed the presence of low exercise tolerance over time, but he was not evaluated by a cardiologist. The emergency FoCUS echocardiographic examination performed in the emergency room apparently showed a hypertensive heart.

Results: After the correction of his high blood pressure, the patient was hospitalized. On clinical examination, the detection of a loud systolic murmur in all auscultation points and his ECG result (a right hyperdeviated electrical axis and the criteria for biventricular hypertrophy) led to the standard transthoracic echocardiographic re-evaluation. It showed severe left and right ventricle hypertrophy, a very small right ventricle cavity, and a membranous ventricular septal defect (with an 8 mm left-to-right shunt). No significant anomalies of the aortic and pulmonary valves were detected. The results lead to several questions. Is the right ventricle hypertrophy secondary ? Why is the interventricular shunt still left–right at his age and in spite of arterial hypertension and the large ventricular septal defect? Why has he not developed Eisenmenger syndrome? Why is there severe biventricular hypertrophy? Is there associated hypertrophic cardiomyopathy?

Conclusions: The imaging data provided by standardized transthoracic echocardiography require the addition of other imaging and paraclinical methods for an integrated, multimodality imaging diagnosis. In echocardiography, the detection of one congenital heart disease obliges us to search for a second. Sometimes, two cardiac pathologies are better than one.

Direct Oral Anticoagulants (DOACs) are generally preferred for stroke prevention in non-valvular atrial fibrillation (AF), particularly in patients >65 years old who are at higher risk of thromboembolic events and bleeding complications. DOACs offer efficacy comparable to warfarin with a better safety profile and fewer dietary interactions, making them suitable for elderly patients. However, challenges remain in patients with renal impairment, polypharmacy, poor nutrition or elevated bleeding risk.

An audit at Derriford Hospital, United Kingdom, evaluated DOAC prescriptions for stroke and systemic embolism prophylaxis in patients >65 years old with non-valvular AF. It aimed to ensure alignment with current national guidelines, hence optimizing outcomes by minimizing thromboembolic risk and dosing-related adverse effects. Data from electronic patient records over a two-week period showed that of the 235 patients reviewed, 51 had AF, with 49 prescribed a DOAC. Only 10% of DOACs were initiated during hospital stays, indicating that most were initiated pre-admission.

The DOAC distribution was Apixaban (n=21), Dabigatran (n=2), Rivaroxaban (n=10) and Edoxaban (n=16). Results showed that only 65% received the correct DOAC choice and dosage based on their clinical needs. Contributing factors included sub-therapeutic doses, clinical scenarios where Apixaban should have been the preferred DOAC, and inadequate dose adjustments for weight, age and renal function. These findings highlight the need for individualized DOAC therapy. To improve practice, a teaching session was provided to the doctors including these findings, and educational posters with key points and dosing guidelines were placed in offices. A follow-up audit conducted three months later revealed that 72.7% of patients were prescribed the correct DOAC choice and dosage across all wards. This improvement in guideline adherence highlights the importance of continued professional education, targeted interventions such as training sessions and guideline-focused resources, and regular audits in maintaining and enhancing prescribing practices within the hospital.

INTRODUCTION: Raynaud's phenomenon (RP) is a vascular disorder characterized by episodic vasospastic attacks, often triggered by cold or stress. In vasospastic disorders such as RP, occurrences of gangrenous changes in the fingers are exceedingly rare. Standard treatments for RP include lifestyle adjustments and a variety of medication regimens, yet in severe cases involving digital ischemia and gangrene, RP management still remains without consensus. This report discusses a case of severe RP treated with a novel surgical approach after conventional therapies and surgical approaches failed.

CASE PRESENTATION: We describe a 47-year-old female with RP presenting with severe gangrene in the third finger. In this patient, medical management of RP, including initial treatments of lifestyle modifications and medications, failed to provide relief. When these conservative therapies proved ineffective, the decision was made to perform a brachial–radial–ulnar arterial thromboembolectomy. However, follow-up duplex ultrasounds showed velocities that were less than ideal despite the open radial and ulnar arteries, and the patient showed early signs of returning symptoms. Thus, the decision was made to perform a subsequent brachial–radial–ulnar double-bypass procedure, a unique surgical approach to RP. This surgical intervention successfully restored adequate perfusion, leading to complete recovery. Post-operatively, the patient demonstrated significant improvement, maintaining patent bypass and resuming normal activities supported by several years of a follow-up post-procedure.

DISCUSSION: This case highlights a complex RP presentation resistant to conventional therapies, necessitating surgical intervention. When thromboembolectomy was not sufficient, the dual-bypass strategy offered a unique solution by providing redundancy in blood supply, which was critical for hand function preservation. Yet, arterial bypasses remain infrequently documented in the literature as treatment options for RP, typically reserved for critical limb ischemia and other vascular diseases. This report emphasizes the importance of consideration for surgical bypass in managing severe RP, underscoring the need for individualized treatment strategies and tailored interventions in severe RP cases.