Articles

Birt Hogg Dube Syndrome (BHDS) is an autosomal dominant inherited disease described in 1977. It is characterized by benign skin hamartomas often located on the head and neck, lung cysts, spontaneous pneumothorax and increased risk of kidney cancer. It is seen that the FLCN gene mutation encoding the structural follicle protein in BHDS.

Atopic dermatitis, a particular type of eczema, stands as the prevalent chronic inflammatory skin condition [1]. Patients with atopic dermatitis possess a flawed skin barrier, making them prone to dryness and susceptible to environmental triggers and allergens.

Benign Recurrent Intrahepatic Cholestasis (BRIC) is a very rare autosomal recessive disorder characterized by episodes of recurrent cholestatic jaundice manifested as pruritus, anorexia, fatigue, steatorrhea followed by complete resolution. Inheritance follows an autosomal recessive pattern with mutation in both alleles of ATP8B1 (BRIC1) or ABCB11 (BRIC2).

A 47-year-old woman presented with recurrent abdominal distension for more than 2 years. The patient developed a feeling of fullness in the upper and middle abdomen after eating food 2 years ago. There was no nausea, vomiting, abdominal pain, diarrhea, acid regurgitation or heartburn. Gastroscopy in another hospital showed chronic superficial gastritis with erosion and biliary reflux.

With the advancement of technology, digital gadgets have progressively become tools for educational pedagogy, enabling the wide-spread application of Virtual Reality (VR) and Augmented Reality (AR) in healthcare education. Neurological rehabilitation, telemedicine, psychotherapy, medical education, and surgical simulation are among the fields in which VR and AR are used.

A 3-year-old child was referred for small eyes and always keeping them closed. MRI revealed dysmorphic ocular globes with loss of their spherical shape and a cystic polilobulated lesion communicating with the globe; hypointense on T1-weighted images and hyperintense on T2-weighted images without contrast enhancement associated with a microphthalmia. Findings are suggestive of a retrobulbar colobomatous congenital cyst (Figure 1).

We present a difficult diagnosis of an unusual intracranial fungal mass in a male farmer aged 50 years who is immunocompetent and right-handed. His cranial CT scan showed a left mass extending into the sphenoid sinus, with a necrotic core and calcifications. The lesion eroded the orbital roof and invaded the left maxillary sinus (Figure 1a).

Jugular vein phlebectasia represents a distinctive form of venous anomaly characterized by an aberrant, fusiform dilatation primarily involving the neck’s venous system, predominantly the Internal Jugu- lar Vein (IJV) and, to a lesser extent, the External Jugular Veins (EJV). Accounting for approximately two-thirds of all cases, IJV phlebectasia manifests more frequently in males, presenting a benign course with most cases being asymptomatic

Long Covid is an emerging public health public problem, the ligering symptoms after Covid-19 infection can last weeks to months. At present, no pharmacologic agent has been know that effectively reduces or abolishes the symptoms of long COVID. The aim of this study was to describe the long term health of patients with confirmed COVID-19 who have discharged from QingHai fourth people’s hospital.

We present a case of an 81-year-old male who developed acute hypoxemic respiratory failure secondary to left-sided mucus plugging. He was not a candidate for bronchoscopy and chest physiotherapy was utilized for airway clearance. The left side cleared but shockingly the right side showed a new opacification, likely mucus plug migration that ultimately required intubation and mechanical ventilation.

The juvenile psammomatoid ossifying fibroma (JPOF) is a rare benign fibroosseous neoplasm of the craniofacial bones. It has predilection for sinusal locations, in young patients, with aggressive behavior and high recurrence rate. Surgical intervention is needed to secure a complete resection of the neoplasm.

Dystrophic epidermolysis bullosa (DEB) is a severe genetic skin disorder caused by mutations in the collagen formation, resulting in extensive blistering, milia, and scarring. This condition is often accompanied by nail dystrophies, as well as changes in teeth and hair. DEB is commonly associated with severe deformities, leading to hand malformations resembling mittens, and an increased risk of squamous cell carcinoma.

Pigmented Fungiform Papillae of the Tongue (PFPT) also known as hyperpigmented fungiform papillae of the tongue is a benign, asymptomatic, and non-progressive condition predominantly affecting individuals with dark skin types. It typically appears between the second and third decades of life, although isolated cases have been described in pediatric patients.

Juvenile Xanthogranulomatosis (JXG) results from an increased proliferation of histiocytes and represents the most common form of non-Langerhans histiocytoses. It typically affects infants and young children [1]. Cutaneous manifestations appear as papules or nodules, generally asymptomatic, with a yellow-orange-brown coloration mainly localized on the face, neck, and upper part of the torso [2].

The median nerve is vital for controlling hand movements. Thus, its variations are clinically important. In this report, we discuss a case of the median nerve with several anatomical variations. While dissecting a male cadaver, we observed several variations in the formation of divisions and cords of the bra- chial plexus.

A 24 hour old male child weighing 2.8 Kg exhibiting extrophy of bladder and malformed small penis with epispadias was delivered by lower uterine caesarian section at term due to suspected obstructed labor in a 28 year old female. Appearance, Pulse, Grimace, Activity, and Respiration (APGAR) score was 8 at one minute and 9 at five minutes [1,2].

Colloid carcinoma of the breast, also known as mucinous or gelatinous carcinoma, is a rare histological form of cancer. It is characterized by the production of extracellular mucus. Two types of colloid carcinoma are distinguished: Pure colloid carcinoma, and mixed colloid carcinoma.

Superior Mesenteric Artery Syndrome (SMAS), often known as Wilkie’s syndrome, is a rare clinical phenomenon brought on by the duodenum’s third segment being squeezed in between the abdominal aorta and superior mesenteric artery, resulting in acute starvation and intestinal blockage.

To report a patient with Arthrogryposis Multiplex Congenita (AMC) 3, myogenic type, presented with external ophthalmoplegia. A thirteen-year-old boy with AMC from Mashhad was referred to our pediatrics ophthalmology clinic with gradual onset, bilateral upper eyelid ptosis for six months, which worsened one month ago.

This study aims to assess the retinal vascular layers in Retinal Artery Occlusion (RAO) cases using Optical Coherence Tomographic Angiography (OCTA). The study included three eyes of three patients with RAO. RAO was defined as sudden vision loss, retinal whitening, and inner retinal intracellular edema disrupting the retinal layers on the Optical Coherence Tomography (OCT) B-scan.

Lymphangioma is a rare benign malformation of lymphatic system that is often diagnosed in the first few years of life. Occurs due to blockage of the lymphatic system during fetal development. They commonly occur in the neck, axilla, and extremities [1,2].

Consanguineous marriage shares blood lineage and is known to cause genetic defect in progenies through transmission of detrimental genes from both parents. Autosomal recessive disorders are well known in this context. Transmission of chromosomal rearrangements through consanguinity is not a very common example.

High-grade AV block affects around 0.04% of the population. In the elderly, it is mostly attributed to age-related conduction system degeneration. On the other hand, high-grade AV block in young adults is rare. It prompts the search for a structural abnormality or a systemic disease such as infections, auto-immune diseases, sarcoidosis, and rare diseases as mitochondrial mutation syndromes.

Imaging of Superior Oblique Palsy (SOP) consistently shown a variable degree of hypoplasia of the paretic Superior Oblique muscle (SO) and variable trochlear nerve absence. But SO absence is very rare in imaging examination, especially in both eyes.

A 63-year-old man, a chronic active smoker with a history of solid dysphagia for 4 months, presented with mild hemoptysis for the past 15 days, complicated by respiratory distress, leading to his hospitalization in the emergency department. The patient was polyene with SpO2 of 85% in ambient air. The X-ray did not show any abnormalities, and the ECG was unremarkable.

Neurocutaneous melanocytosis is one of the neurocutaneous syndromes. This condition is a rare but serious congenital condition that is characterised by hyperpigmented melanocytic naevi of varying size and number with associated melanocytosis of the leptomeninges. This is a case of a newborn baby that was antenatally discovered to have dilated ventricles and on delivery found to have multiple hyperpigmented lesions over the skin suggestive of this condition.

Sudden deafness is a common cause of emergency consultations in otology. Usually, despite investigation, no aetiology is known. Intracochlear haemorrhage, is a rare cause of Sudden Sensorineural Hearing Loss (SSNHL) and may be associated with various labyrinthine disorders. In these cases, Magnetic Resonance Imaging (MRI) is the clef of diagnosis.

Klebsiella pneumoniae (K. pneumoniae) is a gram negative organism commonly associated with respiratory tract infection. Isolated Invasive K. pneumoniae brain abscess and meningitis is extremely rare especially in an immunocompetent patient. There have been emerging cases of hypervirulent Klebsiella pneumoniae reported in Asia-Pacific [1].

Accidental ingestion of hydrocarbon in children is common in developing countries, the main complication of which is chemical pneumonia with deaths occurring in four to ten percent of reported cases. Among various pulmonary complications, pneumatocele is a complication known in the literature unlike the evolution of pneumonia towards an abscess which is considered relatively rare.

A diabetes mellitus is one of the most commonly occurred non communicable disease which affects approximately 422 million peoples worldwide. The mortality of 2 million people per year is estimated due to diabetes and its complication [1]. Diabetic foot is most commonly found chronic complication of Diabetes and leading indication of prolonged hospital stay for its management.

An 18-week pregnant female walked into our antenatal care for her first scan. On doing the first scan, it was evident that the foetus was malformed because the fetal limbs were untraceable, and also, the whole foetus was crumpled like a ball. The sac and the foetus were small and inconsistent with an 18-week pregnancy.

This study aimed to investigate quantitative analysis of patient positioning for panoramic imaging, especially mandibular cortical morphology in relation to patient head alignment using Artificial Intelligence-Based Computer Assisted Diagnosis (AI-CAD) for panoramic radiography.

Disconnected Pancreatic Duct Syndrome (DPDS) is a severe syndrome caused by the disconnection in the pancreatic duct, so that secretion of viable upstream pancreatic parenchyma cannot be drained to the duodenum. It usually occurs on the patients enduring acute necrotizing pancreatitis.

Factor XIII (FXIII) is a plasma proenzym, which stabilizers fibrin clots and plays key role in hemostasis. Here we report a case of acquired FXIII deficiency caused by FXIII inhibitor, which is rare and pathogenisis is still unknown. Experience of treatment is limited to data from case reports. Immunosuppressive drugs may be used to reduce the inhibitors and may have been of benefit in this patient.

Atrial fibrillation is a common arrythmia. Treatment is multi-modal including medical management and more aggressive treatment including surgery and radiofrequency ablation. We report here a case of a 55 year old man who developed an esophageal ulcer related to treatment of atrial fibrillation by cryoablation.

Spigelian hernias, rare defects in the abdominal wall, manifest at the semilunar line lateral to the rectus abdominis muscle. Situated amidst the muscular layers of the abdominal wall, they may escape detection due to abdominal obesity.

A 42-year-old female with abdominal pain and on anticoagulation presented with an acute Rectus Sheath Hematoma (RSH), a rare abdominal pathology. Point-of-Care Ultrasonography (POCUS) was performed at the bedside, revealing a hypoechoic lesion in the left rectus sheath causing mass effect, consistent with RSH.

Myxoedema coma is a critical and potentially fatal condition occurring in untreated or undetected hypothyroidism. It is characterized by systemic organ failure and deteriorating cognitive function. This report outlines a case involving a young male presenting with disturbed consciousness, lowered body temperature, and slow heart rate.

Metformin is widely recognized as the first-line therapy for type 2 diabetes due to its low cost, safety profile, and potential cardiovascular benefits. However, complications of its use may occur in daily clinical practice, including lactic acidosis, which, although rare, is characterized by relatively high mortality.

Induction of multiple eruptive cutaneous nevi has been frequently reported in children with hematologic malignancies and chemotherapy-induced immunosuppression. This is the first report of an adult female patient developing multiple eruptive melanocytic skin lesions while undergoing chemotherapy for metastatic melanoma.

Silver nitrate cauterization is the conventional treatment for peritoneal dialysis catheter exit-site granulomas. Plasma-Ion Pen is a new technique that takes advantage of Plasma radiofrequency ablation and consists of generating plasma energy through the production of ionized energy. These devices are currently very popular on the market at a very low price.

Cesarean section is a crucial part of birth care that may save lives, but it can also perform unintended consequences, they include sepsis, hematoma, uterine dehiscence, and post-cesarean wound infection. These consequences can be diagnosis by radiological examinations such as Computed Tomography (CT), magnetic resonance imaging and ultrasonography.

The vertebral arteries are the main source of blood supply to the structures within the posterior fossa. Vertebral Artery Hypoplasia (VAH) is defined as a condition where there is a difference of more than 2 mm in the diameter of the vertebral arteries at the V4 segment [1]. The concept of regional hypoperfusion is associated with unilateral VAH and posterior circulation stroke [2].

The hepatic artery system exhibits significant anatomical variability, which is crucial for surgical planning and interventions. Understanding these variations within specific populations can enhance the precision of radiological assessments and surgical procedures. To study the anatomical variations in the hepatic artery system using Multi-Detector Computed Tomography (MDCT) in a North Indian population.

Crohn’s Disease (CD) and its complexities are explored through a case report and literature review, shedding light on the multifaceted nature of this chronic inflammatory gastrointestinal disorder. Characterized by unpredictable flare-ups and remissions, CD affects various segments of the gastrointestinal tract, leading to symptoms such as abdominal pain, diarrhea, and weight loss, significantly impacting patients’ quality of life.

Hailey-Hailey Disease (HHD) is a rare autosomal dominant skin disorder caused by mutations in the ATP2C1 gene, leading to impaired calcium ion regulation and cell adhesion, manifesting as recurrent blisters and macerated plaques in friction-prone areas. Standard treatments often provide inadequate control for some patients.

Noonan syndrome (NS, MIM 163950) is an autosomal dominant multisystem disorder which is included among the RASopathies, and is characterized by short stature, typical facial features and multiorgan involvement. Autoimmune hepatitis is a chronic necroinflammatory disease of the liver, commonly characterized by hypergammaglobulinemia (Ig), circulating autoantibodies, and compatible histological findings (interface hepatitis).

This report discusses the diagnostic challenges and management considerations in a 69 year old female presenting with Megalopapilla (MP) and potential glaucoma. MP is rare and benign condition marked by an enlarged optic nerve head with an anomalous disc shape. The differential diagnosis includes glaucoma and glaucoma like patholoies along with optic nerve coloboma, staphyloma and morning glory syndrome.

Upper airway obstruction, although uncommon, is an urgent situation demanding quick access to the trachea. Cricothyroidotomy is considered to be the gold standard method to secure the airway is these cases. However, emergency tracheostomy is a prompt alternative.

The design of this study was intended to evaluate the use of saliva as a reliable non-invasive tool for the genomic and immunological surveillance of SARS-CoV-2 infection in the Republic of Congo. During this cross-sectional study, the active infection was determined by detecting SARS-CoV-2 RNA using RT-PCR in 220 paired saliva and oropharyngeal samples (OPS), and by sequencing SARS- CoV-2 genome using the Oxford nanopore technology.

We present a case report of a 15-year-old girl diagnosed with congenital vaginal atresia with ureteral bud and urethral anomaly. This case describes surgical selection and its long-term management. We used a laparoscopic-assisted vaginoplasty technique, which involved water infusion to separate the rectovesical plane and using the pedicle flap from the hematocolpos to cover the neovagina walls in high distal vaginal atresia.

We report a case of a 76-year-old woman presenting with a long- standing asymptomatic erythematous-brownish reticular rash on the back and glutes. After thorough medical history and examination, the patient recognized she lived in a rural area and admitted to sitting with her back to the chimney for long periods of time.

Coronary endarterectomy constitutes a valid surgical option when complete revascularization is threatened due to in stent restenosis involving diffuse target vessel disease. Despite its promising potential for complete revascularization in diffuse coronary artery disease, its safety and effectiveness are still doubted due to increased mortality and perioperative myocardial infarction rates.