Concurrent SHORT syndrome and 3q duplication syndrome

Alexander M. Boaz,Salvatore A. Grasso,Michael J. DeRogatis,Ellis N. Beesley 대한의학유전학회 2019 대한의학유전학회지 Vol.16 No.1

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syn-drome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly re-ferred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental dis-ability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with ἀndings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Al-though there is no speciἀc treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.

Concurrent SHORT syndrome and 3q duplication syndrome

Boaz, Alexander M.,Grasso, Salvatore A.,DeRogatis, Michael J.,Beesley, Ellis N. Korean Society of Medical Genetics and Genomics 2019 대한의학유전학회지 Vol.16 No.1

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syndrome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly referred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental disability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Although there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.

Concurrent SHORT syndrome and 3q duplication syndrome

Alexander M,Boaz,Salvatore A,Grasso,Michael J,DeRogatis,Ellis N,Beesley 대한의학유전학회 2019 대한의학유전학회지 Vol.16 No.1

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syn-drome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly re-ferred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental dis-ability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Al-though there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.

Nonlinear effects on motions and loads using an iterative time-frequency solver

D. Bruzzone,C. Gironi,A. Grasso 대한조선학회 2011 International Journal of Naval Architecture and Oc Vol.3 No.1

A weakly nonlinear seakeeping methodology for predicting motions and loads is presented in this paper. This methodology assumes linear radiation and diffraction forces, calculated in the frequency domain, and fully nonlinear Froude-Krylov and hydrostatic forces, evaluated in the time domain. The particular approach employed here allows to overcome numerical problems connected to the determination of the impulse response functions. The procedure is divided into three consecutive steps: evaluation of dynamic sinkage and trim in calm water that can significantly influence the final results, a linear seakeeping analysis in the frequency domain and a weakly nonlinear simulation. The first two steps are performed employing a three-dimensional Rankine panel method. Nonlinear Froude-Krylov and hydrostatic forces are computed in the time domain by pressure integration on the actual wetted surface at each time step. Although nonlinear forces are evaluated into the time domain, the equations of motion are solved in the frequency domain iteratively passing from the frequency to the time domain until convergence. The containership S175 is employed as a test case for evaluating the capability of this methodology to correctly predict the nonlinear behavior related to wave induced motions and loads in head seas; numerical results are compared with experimental data provided in literature.

Nonlinear effects on motions and loads using an iterative time-frequency solver

Bruzzone, Dario,Gironi, C.,Grasso, A. The Society of Naval Architects of Korea 2011 International Journal of Naval Architecture and Oc Vol.3 No.1

A weakly nonlinear seakeeping methodology for predicting motions and loads is presented in this paper. This methodology assumes linear radiation and diffraction forces, calculated in the frequency domain, and fully nonlinear Froude-Krylov and hydrostatic forces, evaluated in the time domain. The particular approach employed here allows to overcome numerical problems connected to the determination of the impulse response functions. The procedure is divided into three consecutive steps: evaluation of dynamic sinkage and trim in calm water that can significantly influence the final results, a linear seakeeping analysis in the frequency domain and a weakly nonlinear simulation. The first two steps are performed employing a three-dimensional Rankine panel method. Nonlinear Froude-Krylov and hydrostatic forces are computed in the time domain by pressure integration on the actual wetted surface at each time step. Although nonlinear forces are evaluated into the time domain, the equations of motion are solved in the frequency domain iteratively passing from the frequency to the time domain until convergence. The containership S175 is employed as a test case for evaluating the capability of this methodology to correctly predict the nonlinear behavior related to wave induced motions and loads in head seas; numerical results are compared with experimental data provided in literature.