Multiple Pterygium
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Multiple pterygium syndrome (MPS) is characterized by webbing of the neck, joints, and digits along with short stature and facial anomalies. It can be caused by mutations in the CHRNG gene encoding the gamma subunit of the acetylcholine receptor. A related but distinct condition is popliteal pterygium syndrome, which is dominant and limited to knee contractures. MPS is heterogeneous and can be autosomal recessive, dominant, or sporadic. Escobar syndrome is a nonlethal form of MPS caused by CHRNG mutations, presenting with joint contractures, respiratory distress, and facial dysmorphism.
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AGENESIS OF CORPUS CALLOSUM
FLAT FETAL FACIAL PROFILE
Syndromes of Head & Neck
This document discusses various craniofacial syndromes and deformities, their causes and characteristics. It describes Pierre Robin sequence, featuring micrognathia, glossoptosis and cleft palate. It also discusses Treacher Collins syndrome, characterized by mandibulofacial dysostosis due to defects of the first and second branchial arches. Several craniosynostosis syndromes are outlined, including Crouzon syndrome, Apert syndrome, Pfeiffer syndrome, and cloverleaf skull syndrome. Surgical treatments aim to decompress the brain, reshape the skull, and reconstruct midface and jaw deformities.
Alport syndrome
This PPT is very helpful to all the faculty and medical student to increasing the knowledge of alport syndrome.
Congenital epilepsi
This document summarizes several chromosomal abnormalities that are associated with epilepsy syndromes, including specific clinical and EEG patterns. It describes 1p36 monosomy, Wolf-Hirschhorn syndrome, Angelman syndrome, Miller-Dieker syndrome, 18q- syndrome, and ring chromosome 20 syndrome as having characteristic epileptic presentations. It notes that Down syndrome has a lower incidence of epilepsy than other intellectual disability syndromes, with onset typically in early childhood or third decade of life. The document concludes that further research is needed to understand the mechanisms underlying epilepsy in chromosomal abnormalities.
A Review on Genetic Dominant Disorder-Polydactyly
Polydactyly is genetic disorder in which there is mutation of gene that is located on short arm of chromosome 7. One gene that can cause polydactyly is GLI3 and it is one among number of genes that are known to be involved in the patterning of tissues and organs during development of the embryo. Mutations of GLI3 gene during development will cause two types of polydactyly. Those are postaxial ulnar and preaxial radial polydactyly. The treatment plan is based on the outcome of analysis of patients medical history, social history, motivation, social and psychological disturbance. Akshata. B. Kichadi | Dr. Uma B Gopal | Santhosh Singarapu | Chaitra. S | Manukrishnan. K | Jeevankumar. Giri "A Review on Genetic Dominant Disorder-Polydactyly" Published in International Journal of Trend in Scientific Research and Development (ijtsrd), ISSN: 2456-6470, Volume-3 | Issue-2 , February 2019, URL: https://www.ijtsrd.com/papers/ijtsrd20232.pdf
Paper URL: https://www.ijtsrd.com/medicine/anatomy/20232/a-review-on-genetic-dominant-disorder-polydactyly/akshata-b-kichadi
Prion diseases implications in dentistry/ dental implant courses
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and
offering a wide range of dental certified courses in different formats.
Ataxia.pptx dbdhndjsjsjdkjzjxjdbfbxnzndndnxj
This document discusses the approach to ataxia and cerebellar disorders. It defines ataxia as a lack of coordination in movements. Ataxia can be caused by issues in the cerebellum, sensory pathways, or vestibular system. The types, clinical features, and causes of cerebellar ataxia are described, including acquired disorders, toxic causes like alcohol, infections, autoimmune disorders, and hereditary ataxias. The diagnosis involves a thorough history, imaging, laboratory tests, and genetic testing depending on the suspected cause. Management focuses on correcting any deficiencies, specific diets, immunomodulation for autoimmune causes, and rehabilitation.
Bone disorders
This document describes cherubism, a rare genetic condition characterized by bilateral swelling of the jaws causing a cherubic facial appearance. It results from mutations in the SH3BP2 gene in most cases, causing excess bone growth in the jaws during childhood that typically resolves by adulthood. Symptoms range from mild jaw enlargement to severe issues with vision, breathing, speech or swallowing depending on the severity.
Retinitis pigmentosa
1. Retinitis pigmentosa is a genetically determined, progressive degeneration of retinal photoreceptors that affects both eyes symmetrically. It initially impacts rods, followed by cones.
2. Symptoms include night blindness, loss of peripheral vision, light sensitivity, and eventual loss of central vision. It can be inherited in autosomal recessive, autosomal dominant, or X-linked patterns.
3. Diagnosis involves visual acuity testing, visual fields, color vision, dilated fundus exam showing bone spicule pigmentation, attenuated vessels, and disc pallor. Electroretinography can detect early disease. There is no cure but vitamin supplementation and low-light lifestyle adaptations can
Fragile x syndrome
Fragile X syndrome is a genetic condition caused by a trinucleotide repeat expansion in the FMR1 gene on the X chromosome. It is the most common inherited cause of intellectual disability and developmental disabilities. Symptoms include moderate to severe intellectual disabilities, distinctive facial features and connective tissue issues. It is diagnosed through genetic testing to detect the number of CGG repeats in the FMR1 gene. Management requires a multidisciplinary approach including medical care, therapies, behavioral and educational interventions.
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Prion diseases implications in dentistry/ dental implant courses
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USS in Ectopic Pregnancy
The document discusses various ultrasound features that can help diagnose different types of ectopic pregnancies, including tubal, cervical, interstitial, abdominal, and caesarean scar pregnancies. Key diagnostic criteria include gestational sac location, presence of healthy myometrium tissue, and Doppler flow characteristics. The document provides diagrams and descriptions to illustrate differences between pseudosacs, normal intrauterine pregnancies, and ectopic pregnancies located in fallopian tubes, ovaries, and other abnormal locations. Careful ultrasound examination is important for accurately identifying ectopic pregnancies.
Induction of labour
The document discusses guidelines for induction of labor including:
1) Common reasons for induction of labor and risks/benefits that should be discussed with patients. Patients should be informed of alternative options if they decline induction.
2) What to discuss at the 38 week visit including membrane sweeps and the timing of induction between 41-42 weeks or for other reasons like preterm rupture of membranes.
3) Methods of induction including membrane sweeps, pharmacological agents like prostaglandins, amniotomy, and Foley catheter placement. Risks of induction like uterine hyperstimulation and failed induction are also addressed.
Management of tubal ectopic pregnancy
This document discusses the management of ectopic pregnancies. It outlines the treatment options of expectant, medical, and surgical management. For ruptured ectopic pregnancies, immediate resuscitation and laparotomy are needed. Surgical management typically involves salpingectomy, though salpingotomy may be considered to preserve fertility. Medical management uses methotrexate and has a success rate of 90% with one dose. Expectant management can be considered for select stable patients. Proper follow-up with serial hCG and ultrasound exams is important for all management approaches.
Management of tubal ectopic pregnancy
Management of ectopic pregnancy involves expectant, medical, or surgical treatment options. Ruptured ectopic pregnancies require emergency laparotomy for salpingectomy and resuscitation. Medical management with methotrexate is appropriate for stable patients with HCG <3,000 and no fetal pole. Follow up HCG levels are needed to monitor resolution and detect persistent trophoblast requiring further treatment. Expectant management can be considered for asymptomatic patients with HCG <1,000 and adnexal mass <5cm if HCG decreases by 50% within a week.
HIV and pregnancy
The document discusses HIV in pregnancy and strategies to prevent mother-to-child transmission. It recommends screening all pregnant women for HIV early in pregnancy and managing positive cases with a multidisciplinary team. Antiretroviral therapy is recommended for HIV-positive mothers during pregnancy and delivery to reduce transmission risk below 2%. Mode of delivery depends on the mother's viral load and treatment, with elective c-section beneficial for untreated or high viral load women.
Thromboprophylaxis During Pregnancy, Labour And
This document provides guidelines for thromboprophylaxis during pregnancy, labor, and after vaginal delivery. It outlines various risk factors for venous thromboembolism (VTE) including pre-existing conditions like previous DVT or thrombophilia, as well as transient risks from procedures, immobilization, or medical complications. It recommends individual assessment and management based on risk factor profile, including consideration of antenatal low molecular weight heparin for high risk groups like those with previous VTE or inherited thrombophilia. Postpartum prophylaxis for at least 6 weeks is also advised for many groups based on their VTE risk.
Cardio pulmonary resuscitation
The document discusses cardiopulmonary resuscitation (CPR) and key aspects of the chain of survival:
1) Early recognition and calling for help, such as using early warning scores to identify at-risk patients.
2) Early CPR and defibrillation if needed. Defibrillation should be performed with minimal interruptions to chest compressions.
3) Post resuscitation care including treating any reversible causes like hypoxia, tension pneumothorax, hypothermia, etc.
Vault Proplapse Repair
This document summarizes guidelines for managing vaginal vault prolapse after hysterectomy. It discusses prevention techniques during hysterectomy like McCall culdoplasty and ligament fixation. Assessment involves the POPQ system. Conservative options include pessaries but have unclear roles. Surgical options include sacrospinous fixation, sacrocolpopexy, and colpocleisis for frail patients. Sacrospinous fixation has shorter recovery but higher recurrence risks than sacrocolpopexy. Laparoscopic techniques require more skill but have shorter recovery. Slings and mesh reconstruction require further research.
Still Birth Classification
The document discusses various classification systems for stillbirths and neonatal deaths. It describes the ReCoDe classification system which categorizes stillbirths into 9 groups based on the relevant condition at death, including groups for fetal conditions, umbilical cord issues, placental problems, amniotic fluid abnormalities, uterine factors, maternal health conditions, intrapartum complications, trauma, and unclassified cases. It then outlines several other classification approaches including the Wigglesworth, Nordic-Baltic, and Aberdeen systems which categorize stillbirths and neonatal deaths based on factors like congenital anomalies, gestational age, infection, maternal conditions, and unexplained cases.
Small For Gestational Age
This document discusses small for gestational age (SGA) babies, including the definition, implications, causes, diagnosis, and management. SGA refers to babies that fail to reach weight thresholds by certain gestational ages. Left undetected and unmonitored, SGA can lead to stillbirth, birth complications, and long-term health issues. Common causes include chromosomal abnormalities. Diagnosis involves ultrasound scans, fundal height measurements, and Doppler tests. Management includes determining causes, surveillance with Doppler ultrasound, and deciding on delivery timing and method based on test results.
Tuberculosis In Pregnancy
Tuberculosis in pregnancy can be safely diagnosed and treated. While historically tuberculosis was thought to be harmful during pregnancy, modern treatments with drug combinations like rifampicin, isoniazid and ethambutol have shown no increased risk of malformations or damage when used during pregnancy. Early diagnosis and treatment leads to outcomes similar to non-pregnant women, while late diagnosis increases morbidity. Breastfeeding can also be done safely while the mother receives standard tuberculosis treatment. Screening for HIV is also recommended for pregnant women diagnosed with active tuberculosis.
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Multiple Pterygium
- 1. Multiple pterygium Dr.V.Ravimohan http://www.mrcogexam.net
- 20. MPS vs PPS Victor Escobar et al.Mutiple Pterygium sundrome:Am J Dis Child –Vol 132,June 1978 MPS PPS No Cleft lip/palate No Lip pits No sygnathia No Ankyloblepharon Absence of pterygia in neck/axillary region/antecubital fossa Autosomal recessive Autosomal dominant Cleft palate is present in 41% of cases Cleft lip(with or without cleft palate) present in nearly all cases
- 22. ESCOBAR vs Frias ESCOBAR Frias Arthrogryposis with pterygia Arthrogryposis with pterygia ptosis ptosis Antimongoloid slant of palperal fissures Antimongoloid slant of palperal fissures Scoliosis Scoliosis Always short stature Malsegmentation of spine