scholarly journals The Clinical Manifestations of Femoral-Facial Syndrome in an Orthopaedic Patient

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Abdullah Ghali ◽  
Luis Salazar ◽  
David Momtaz ◽  
Gautham Prabhakar ◽  
Preston Richier ◽  
...  
Keyword(s):  
Clinical Manifestations ◽  
Disease Process ◽  
Maternal Diabetes ◽  
Interesting Case ◽  
Unknown Etiology ◽  
Rare Congenital Disorder ◽  
Surgical History ◽  
Pediatric Orthopaedic ◽  
Management Recommendations ◽  
Femoral Hypoplasia

Femoral-facial syndrome (FFS) is an exceedingly rare congenital disorder of unknown etiology related to maternal diabetes during pregnancy. It is characterized by variations of bilateral femoral hypoplasia and facial anomalies. We discuss an interesting case of a 3-year-old girl with FFS with an extensive surgical history who presented to a pediatric orthopaedic clinic with ankle pains and absent femurs. As this disease process is not frequently encountered, it is imperative for the practicing clinician to be aware of the various presentations. In this study, we discuss the different orthopaedic presentations in the literature and discuss various management recommendations.

scholarly journals Chronic Fever with Severe Weakness - A Case Report

2017 ◽  
Vol 25 (2) ◽  
pp. 142-147
Author(s):  
Rabeya Akther ◽  
Humayra Jesmin
Keyword(s):  
Clinical Manifestations ◽  
Hemoglobin Concentration ◽  
Unknown Origin ◽  
Interesting Case ◽  
Differential Diagnoses ◽  
Treatment Modalities ◽  
Unknown Etiology ◽  
Systemic Inflammatory Disease ◽  
Wbc Count ◽  
Severe Weakness

Adult onset Still’s disease (AOSD) is a rare systemic inflammatory disease of unknown etiology and pathogenesis that presents in 5 to 10% of patients as fever of unknown origin (FUO) accompanied by systemic manifestations. We report an interesting case of a 63-year-old Bangladeshi male who presented with one-month duration of FUO along with, severe weakness, oral thrush, high WBC count, low RBC count and low hemoglobin concentration. After extensive workup, potential differential diagnoses were ruled out and the patient was diagnosed with AOSD based on the Yamaguchi criteria. The case history, incidence, pathogenesis, clinical manifestations, differential diagnoses, diagnostic workup, treatment modalities, and prognosis of AOSD are discussed in this case report.J Dhaka Medical College, Vol. 25, No.2, October, 2016, Page 142-147

COVID 19: REALS AND CHALLENGES AGAINST DOCTORS

2020 ◽  
Vol 2 (1) ◽  
pp. 65-87
Author(s):  
Zen Ahmad
Keyword(s):  
Virus Disease ◽  
Clinical Manifestations ◽  
World Health ◽  
Unknown Etiology ◽  
Wuhan City ◽  
Traditional Markets ◽  
Pneumonia Case ◽  
The World ◽  
New Type ◽  
Health Organization

Corona Virus Disease (Covid-19) is a contagious disease caused by Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) which was discovered in December 2019 in China. This disease can cause clinical manifestations in the airway, lung and systemic. The World Health Organization (WHO) representative of China reported a pneumonia case with unknown etiology in Wuhan City, Hubei Province, China on December 31, 2019. The cause was identified as a new type of coronavirus on January 7, 2020 with an estimated source of the virus from traditional markets (seafood market). ) Wuhan city

scholarly journals Animal Models of Autosomal Recessive Parkinsonism

Biomedicines ◽  
2021 ◽  
Vol 9 (7) ◽  
pp. 812
Author(s):  
Guendalina Bastioli ◽  
Maria Regoni ◽  
Federico Cazzaniga ◽  
Chiara Maria Giulia De Luca ◽  
Edoardo Bistaffa ◽  
...  
Keyword(s):  
Animal Models ◽  
Sleep Disturbances ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Cognitive Disorders ◽  
Dopamine Neurons ◽  
Substantia Nigra Pars Compacta ◽  
Current Status ◽  
Unknown Etiology ◽  
Neuron Death

Parkinson’s disease (PD) is the most common neurodegenerative movement disorder. The neuropathological hallmark of the disease is the loss of dopamine neurons of the substantia nigra pars compacta. The clinical manifestations of PD are bradykinesia, rigidity, resting tremors and postural instability. PD patients often display non-motor symptoms such as depression, anxiety, weakness, sleep disturbances and cognitive disorders. Although, in 90% of cases, PD has a sporadic onset of unknown etiology, highly penetrant rare genetic mutations in many genes have been linked with typical familial PD. Understanding the mechanisms behind the DA neuron death in these Mendelian forms may help to illuminate the pathogenesis of DA neuron degeneration in the more common forms of PD. A key step in the identification of the molecular pathways underlying DA neuron death, and in the development of therapeutic strategies, is the creation and characterization of animal models that faithfully recapitulate the human disease. In this review, we outline the current status of PD modeling using mouse, rat and non-mammalian models, focusing on animal models for autosomal recessive PD.

Main clinical manifestations of a bleeding diathesis: an often disregarded aspect of medical and surgical history taking

Haemophilia ◽  
2005 ◽  
Vol 11 (3) ◽  
pp. 193-202 ◽  
Author(s):  
A. Girolami ◽  
G. Luzzatto ◽  
C. Varvarikis ◽  
D. Pellati ◽  
R. Sartori ◽  
...  
Keyword(s):  
Clinical Manifestations ◽  
Bleeding Diathesis ◽  
History Taking ◽  
Surgical History

scholarly journals The contribution of epigenetics to the pathogenesis and gender dimorphism of systemic sclerosis: a comprehensive overview

2020 ◽  
Vol 12 ◽  
pp. 1759720X2091845 ◽  
Author(s):  
Bianca Saveria Fioretto ◽  
Irene Rosa ◽  
Eloisa Romano ◽  
Yukai Wang ◽  
Serena Guiducci ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
X Chromosome ◽  
Clinical Manifestations ◽  
Connective Tissue Disorder ◽  
Epigenetic Modifications ◽  
Unknown Etiology ◽  
Comprehensive Overview ◽  
Gender Dimorphism ◽  
Immune Related Genes ◽  
The Right

Systemic sclerosis (SSc) is a life-threatening connective tissue disorder of unknown etiology characterized by widespread vascular injury and dysfunction, impaired angiogenesis, immune dysregulation and progressive fibrosis of the skin and internal organs. Over the past few years, a new trend of investigations is increasingly reporting aberrant epigenetic modifications in genes related to the pathogenesis of SSc, suggesting that, besides genetics, epigenetics may play a pivotal role in disease development and clinical manifestations. Like many other autoimmune diseases, SSc presents a striking female predominance, and even if the reason for this gender imbalance has yet to be completely understood, it appears that the X chromosome, which contains many gender and immune-related genes, could play a role in such gender-biased prevalence. Besides a short summary of the genetic background of SSc, in this review we provide a comprehensive overview of the most recent insights into the epigenetic modifications which underlie the pathophysiology of SSc. A particular focus is given to genetic variations in genes located on the X chromosome as well as to the main X-linked epigenetic modifications that can influence SSc susceptibility and clinical phenotype. On the basis of the most recent advances, there is realistic hope that integrating epigenetic data with genomic, transcriptomic, proteomic and metabolomic analyses may provide in the future a better picture of their functional implications in SSc, paving the right way for a better understanding of disease pathogenesis and the development of innovative therapeutic approaches.

scholarly journals CLINICAL MANIFESTATIONS OF SARCOIDOSIS ON THE PROLABIUM AND ORAL MUCOSA: MANAGEMENT

2018 ◽  
pp. 34-36
Author(s):  
P.M. Skrypnikov ◽  
T.P. Skrypnikova ◽  
Yu.M. Vitko
Keyword(s):  
Oral Cavity ◽  
Oral Mucosa ◽  
Correct Diagnosis ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Morbidity Rate ◽  
Unknown Etiology ◽  
Toxic Substances ◽  
Male Population ◽  
Female Population

The statistics indicates on the tendency of morbidity rate of sarcoidosis to increase. The pathology affects young and older people notably. Sarcoidosis becomes a common chronic disease, which is often difficult to diagnose. Insufficient experience in recognition of this disease leads to misdiagnosis and ineffective treatment. All mentioned above highlights the extreme relevance of this issue. Sarcoidosis is a multisystem inflammatory nature disease of unknown etiology. The hereditary predisposition is taken to be but the whole family cases are also known. An abnormal immune response is also considered among the theories of the development of the disease. The infectious factor is also regarded as the cause of the disease. The increasing activity of lymphocytes, which start to produce substances promoting the formation of the granulomas, which are considered to be the basis for the pathological process, can initiate the onset of the disease. The maximum morbidity rate of sarcoidosis is observed between the ages of 35 to 55 years. Two age periods of the peak in male population are 35-40 years and about 55 years. The rate of sarcoidosis morbidity among female population is 65%. Up to 700 new cases of sarcoidosis are registered in Ukraine annually. The clinical signs of sarcoidosis vary. This pathology is more often manifested by the bilateral lymphadenopathy of lung roots, eyes and skin lesions. The liver, spleen, lymph nodes, heart, nervous system, muscles, bones and other organs can also be affected. In dental practice sarcoidosis can be manifested on the prolabium, oral mucosa and salivary glands. Blood laboratory indices (the increased level of calcium) are changed in sarcoidosis. Chest X-ray, MRI and CT also demonstrate changes in the lungs. The test for detection of granulomas shows positive Kveim reaction (the formation of purple-red nodules due to administration of antigen). Biopsy and bronchoscopy facilitate detection of both direct and indirect signs of sarcoidosis of the lungs. A general treatment of sarcoidosis is provided by a pulmonologist, who can assess the severity of the lesion and provide appropriate treatment. The core of treatment is based on corticosteroids. In severe cases immunosuppressors, anti-inflammatory drugs, antioxidants are prescribed. A dentist performs oral cavity sanation, professional hygiene. Mouth rinses with Dekasan solution, sublingual Lisobakt pills are prescribed to prevent inflammatory lesions. Patients with sarcoidosis are recommended to avoid solar radiation and contact with chemical and toxic substances harmful to the liver, reduction of the consumption of foods rich in calcium. Healthy life-style is crucial in prevention of exacerbations of sarcoidosis. In the remission period regular medical check-ups and oral cavity sanation are recommended. The correct diagnosis in rare diseases requires highly qualified dental professionals, the interdisciplinary approach in the diagnosing and management of patients with this pathology.

scholarly journals Impacts of FcγRIIB and FcγRIIIA gene polymorphisms on systemic lupus erythematous disease activity index

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Mansoor Karimifar ◽  
Khosro Akbari ◽  
Reza ArefNezhad ◽  
Farshid Fathi ◽  
Mohammad Moosaeepour ◽  
...  
Keyword(s):  
Disease Activity ◽  
Activity Index ◽  
Clinical Manifestations ◽  
Disease Activity Index ◽  
Unknown Etiology ◽  
Systemic Lupus Erythematous ◽  
Nucleotide Polymorphisms ◽  
Systemic Lupus ◽  
Single Nucleotide ◽  
Chronic Autoimmune Disease

Abstract Objective Systemic lupus erythematous (SLE) disease is a chronic autoimmune disease with unknown etiology that can involve different organs. Polymorphisms in Fcγ receptors have been identified as genetic factors in susceptibility to SLE. This study was aimed to investigate effects of two single nucleotide polymorphisms (SNPs) within FcγRIIB and FcγRIIIA genes on systemic lupus erythematous disease activity index (SLEDAI) in an Iranian population. Results Our findings indicated TT and GG genotypes were the common genotypes of FcγRIIB and FcγRIIIA SNPs in SLE patients, respectively. There were no significant differences in genotype and allele frequencies of FcγRIIB and FcγRIIIA SNPs in SLE and healthy subjects. However, the frequencies of genotypes and alleles of FcγRIIB and FcγRIIIA SNPs were significantly associated with some clinical manifestations used to determine SLEDAI (P < 0.001–0.5).

scholarly journals Hepatic involvement in sarcoidosis

2019 ◽  
Vol 91 (4) ◽  
pp. 4-12
Author(s):  
V V Fomin ◽  
M Yu Brovko ◽  
M V Kalashnikov ◽  
V I Sholomova ◽  
T P Rozina ◽  
...  
Keyword(s):  
Clinical Manifestations ◽  
Normal Liver ◽  
Liver Function Tests ◽  
Pathological Process ◽  
Unknown Etiology ◽  
Primary Biliary Cholangitis ◽  
Treatment Protocols ◽  
Hepatic Involvement ◽  
Wide Range ◽  
Hepatic Sarcoidosis

Sarcoidosis is a multisystem granulomatous disease of unknown etiology. Liver is frequently involved in the pathological process. Wide range of clinical manifestations can be seen: from asymptomatic lesion with normal liver function tests to cirrhosis with portal hypertension. Biopsy plays the key role in diagnosis of the hepatic sarcoidosis. It is essential for morphological diagnosis to exclude other causes of granulomatous liver disease, most often - primary biliary cholangitis. Nowadays there are no standard treatment protocols for patients with hepatic sarcoidosis.

scholarly journals Interesting case discussion of a lesion over the right abdominal wall

2019 ◽  
Vol 6 (2) ◽  
pp. 636
Author(s):  
Anand Ignatius Peter ◽  
Souvik Patra ◽  
Samreen Jaffar
Keyword(s):  
Pleural Effusion ◽  
Abdominal Wall ◽  
Malignant Lesion ◽  
Skin Surface ◽  
Liver Lesion ◽  
Interesting Case ◽  
Lumbar Region ◽  
Contrast Enhanced Ct ◽  
Surgical History ◽  
The Right

A diagnosis of hepatic actinomycosis is challenging and often overlooked because of its indiscernible nature and slow rate of progression. This is further complicated with absence of any specific clinical and radiologic manifestations. In this case, a 49 years old male, farmer, with no co-morbidities or significant past medical or surgical history, reported to the department of surgery, with complains of non-healing ulcer over right upper abdomen since five months. Examination of the ulcer led to a clinical suspicion of a malignant lesion. Sonogram of abdomen and pelvic region, which revealed heterogenous lesion with central necrosis in the right lumbar region of the abdominal wall with extension into the skin surface, a heterogenous lesion noted on the liver, and right pleural effusion with the suggestion to consider the possibility of primary skin/abdominal wall tumor with hepatic metastasis with right pleural effusion. Further investigation was performed using contrast enhanced CT scan which also favoured the diagnosis of a malignancy. However, biopsy of the skin lesion was negative for malignancy and it confirmed the diagnosis of Actinomycosis. This diagnosis was further confirmed with an ultrasound guided biopsy of the liver lesion. The patient was then started on appropriate treatment for the same and he recovered well.

scholarly journals Sarcoidosis: Causes, Diagnosis, Clinical Features, and Treatments

2020 ◽  
Vol 9 (4) ◽  
pp. 1081 ◽  
Author(s):  
Rashi Jain ◽  
Dhananjay Yadav ◽  
Nidhi Puranik ◽  
Randeep Guleria ◽  
Jun-O Jin
Keyword(s):  
Clinical Features ◽  
Histopathological Examination ◽  
Clinical Manifestations ◽  
Endobronchial Ultrasound ◽  
Unknown Etiology ◽  
High Resolution Computed Tomography ◽  
Positron Emission ◽  
Increased Risk ◽  
Night Sweats ◽  
Spleen And Lymph Nodes

Sarcoidosis is a multisystem granulomatous disease with nonspecific clinical manifestations that commonly affects the pulmonary system and other organs including the eyes, skin, liver, spleen, and lymph nodes. Sarcoidosis usually presents with persistent dry cough, eye and skin manifestations, weight loss, fatigue, night sweats, and erythema nodosum. Sarcoidosis is not influenced by sex or age, although it is more common in adults (< 50 years) of African-American or Scandinavians decent. Diagnosis can be difficult because of nonspecific symptoms and can only be verified following histopathological examination. Various factors, including infection, genetic predisposition, and environmental factors, are involved in the pathology of sarcoidosis. Exposures to insecticides, herbicides, bioaerosols, and agricultural employment are also associated with an increased risk for sarcoidosis. Due to its unknown etiology, early diagnosis and detection are difficult; however, the advent of advanced technologies, such as endobronchial ultrasound-guided biopsy, high-resolution computed tomography, magnetic resonance imaging, and 18F-fluorodeoxyglucose positron emission tomography has improved our ability to reliably diagnose this condition and accurately forecast its prognosis. This review discusses the causes and clinical features of sarcoidosis, and the improvements made in its prognosis, therapeutic management, and the recent discovery of potential biomarkers associated with the diagnostic assay used for sarcoidosis confirmation.

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