1.SPRENGEL SHOULDER.pptx
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Sprengel shoulder is a congenital condition where the scapula fails to descend from its initial high position, causing it to be hypoplastic and improperly shaped. This may be due to imperfect descent of the shoulder girdle or a muscle band that failed to grow. Clinically, the scapular muscles are poorly developed and shoulder movement is limited. X-rays can confirm the diagnosis, while mild cases need no treatment and severe cases may be treated with surgery to release muscles from the scapula. Physical therapy focuses on pain control, gentle mobilization, and strengthening shoulder muscles.
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Since our release of the PGx capabilities in VarSeq, we’ve had a few months to gather some insights from various use cases. Some users approach PGx workflows by means of array genotyping or what seems to be a growing trend of adding the star allele calling to the existing NGS pipeline for whole genome data. Luckily, both approaches are supported with the VarSeq software platform. The genotyping method being used will also dictate what the scope of the tertiary analysis will be. For example, are your PGx reports a standalone pipeline or would your lab’s goal be to handle a dual-purpose workflow and report on PGx + Diagnostic findings.
The purpose of this webcast is to:
Discuss and demonstrate the approaches with array and NGS genotyping methods for star allele calling to prep for downstream analysis.
Following genotyping, explore alternative tertiary workflow concepts in VarSeq to handle PGx reporting.
Moreover, we will include insights users will need to consider when validating their PGx workflow for all possible star alleles and options you have for automating your PGx analysis for large number of samples. Please join us for a session dedicated to the application of star allele genotyping and subsequent PGx workflows in our VarSeq software.
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- 2. • IN THIS CONDITION SCAPULA FAILS TO DESCEND DOWN FROM ITS INITIAL HIGH POSITION IN THE EMBRYO • HERE THE SCAPULA LIES MORE SUPERIORLY. IT IS HYPOPLASTIC AND IMPROPERLY SHAPED • IT IS ASSOCIATED WITH OTHER CONGENITAL ANOMALIES LIKE CERVICAL RIB, ETC.
- 3. ETIOLOGY: • THIS MAY BE DUE TO IMPERFECT DESCENT OF THE SHOULDER GIRDLE BY THIRD MONTH OR A BAND OF MUSCLE FROM THE SKULL TO THE SCAPULA WHICH HAS FAILED TO GROW.
- 4. CLINICAL FEATURES: • THE SCAPULAR MUSCLES ARE POORLY DEVELOPED AND MAY BE REPRESENTED BY FIBROUS BANDS. • IT MAY BE ACCOMPANIED BY SCOLIOSIS (THORACIC CURVE) WITH CONVEXITY ON THE INVOLVED SIDE. • THE MOVEMENT OF SCAPULA IS MARKEDLY LIMITED DUE TO THE FIBROUS BANDS OR A BONY BAR RESULTING IN LIMITATION OF SHOULDER ABDUCTION AND ELEVATION. • HOWEVER, THE FUNCTIONAL DISABILITY IS USUALLY MINIMAL. • VERY LITTLE IMPROVEMENT CAN BE OFFERED BY WAY OF CORRECTIVE EXERCISES
- 5. • THE SCAPULA IS HIGH BY 2 TO 10 CM, THE DEFORMITY IS OBVIOUS • CAVENDISH’S GRADING • GROUP 1—VERY MILD • GROUP 2—MILD, SHOULDER SLIGHTLY UNALIGNED • GROUP 3—MODERATE, SHOULDER HIGH. • GROUP 4—SEVERE, WITH SUPERIOR ANGLE OF SCAPULA NEAR THE OCCIPUT.
- 7. TREATMENT: • FOR CASES WITH MILD DEFORMITY NO TREATMENT IS REQUIRED. • FOR SEVERE CASES SURGERY IS DONE AFTER 3 YEARS AND THIS CONSISTS OF RELEASE OF MUSCLES FROM THE SCAPULA OR TRANSFER OF ORIGIN OF THE TRAPEZIUS MUSCLE
- 8. PT MANAGEMENT: • MEASURES TO CONTROL PAIN • USUAL METHODS LIKE ULTRASONIC, TENS, ETC. ARE HELPFUL. • MEASURES FOR MOBILIZATION • GENTLE RELAXED PASSIVE MOVEMENTS OF THE SHOULDER GIRDLE MUSCLES. • EARLY MOBILITY OF THE SHOULDER IS AIMED AT. • MEASURES TO STRENGTHEN THE MUSCLES • THE MUSCLES AROUND THE SHOULDER GIRDLE ARE STRENGTHENED BY SUITABLE ISOMETRIC AND ISOTONIC SHOULDER EXERCISES