Postmortem Diagnosis of Heart-hand Syndrome Associated With a 7p22.1p22.3 Deletion in a 16-week-old Fetus

2018 ◽  
Vol 22 (2) ◽  
pp. 146-151
Author(s):  
Aude Tessier ◽  
Patrick Callier ◽  
Nathalie LeMeur ◽  
Thierry Frebourg ◽  
Jean-Christophe Sabourin ◽  
...  
Keyword(s):  
Growth Retardation ◽  
Great Artery ◽  
Human Case ◽  
Pelvic Kidney ◽  
Cardiac Malformation ◽  
Male Fetus ◽  
Postmortem Diagnosis ◽  
Limb Defects ◽  
The Third ◽  
Limb Anomalies

We report a male fetus with a 6.8 Mb deletion on chromosome 7p22.1p22.3 at 16 weeks of gestation. The fetus presented a heart-hand syndrome with great artery malposition, bilateral radial ray deficiency, a single pelvic kidney, and growth retardation. This deletion involves a minimal deleted region for cardiac malformation and the RAC1 gene, previously described in limb anomalies in mice. This fetus is the third human case with limb defects and RAC1 deletion.

scholarly journals An unusual and rare form of truncus arteriosus in an asymptomatic woman

Ultrasound ◽  
2017 ◽  
Vol 25 (4) ◽  
pp. 251-254
Author(s):  
Maryam Nabati
Keyword(s):  
Pulmonary Arteries ◽  
Great Artery ◽  
Truncus Arteriosus ◽  
Cardiac Malformation ◽  
Rare Form ◽  
Persistent Truncus Arteriosus ◽  
Congenital Cardiac Malformation ◽  
Pulmonary Arterial ◽  
One Year ◽  
Severe Pulmonary Arterial Hypertension

Persistent truncus arteriosus is a rare congenital cardiac malformation. It is characterized by a single great artery arising from the heart which supplies the aorta, the origin of coronary arteries and pulmonary arteries. Without surgery, prognosis is poor and 90% of these patients die before one year of age. We report a rare case of an asymptomatic 35-year-old woman with uncorrected persistent truncus arteriosus and hypoplastic right and left pulmonary arteries. Hypoplastic branch pulmonary arteries prevented the development of severe pulmonary arterial hypertension.

Onchocerca lupi infection in Turkey: A unique case of a rare human parasite

2013 ◽  
Vol 58 (3) ◽  
Author(s):  
Hatice Ilhan ◽  
Aylin Yaman ◽  
Yasuyuki Morishima ◽  
Hiromu Sugiyama ◽  
Maki Muto ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Molecular Analysis ◽  
The United States ◽  
Human Case ◽  
Cystic Mass ◽  
Pathological Examination ◽  
Unique Case ◽  
The Third ◽  
Human Parasite ◽  
Excised Tissue

AbstractOnchocerpa lupi was first isolated from a wolf in Russia. Since then, canine ocular onchocercosis has been increasingly reported, particularly in Europe and the United States. It is thought that blackflies and midges are the vectors of transmission, and it is possible that these vectors could transmit the parasite to humans. The first human case of O. lupi in Turkey was reported in 2011. In this report we present the third human case of O. lupi infection in Turkey. Our patient was a 28-year-old male who displayed a painless, immobile mass under the conjunctiva. The mass measured 10 × 12 mm in size. Pathological examination of the surgically excised tissue was suggestive of infection by a filarial nematode. Subsequently, the parasite was identified as O. lupi through molecular analysis. All of the previously reported cases of O. lupi in both humans and dogs were more symptomatic than in our patient, Onchocerca infection should not be ruled out during the differential diagnosis of the subconjunctival and orbital cystic mass in instances where there is little to no inflammation. It is important to consider biopsy and carry out molecular analysis to identify the parasite.

scholarly journals Therapeutic dilemma in twin reversed arterial perfusion sequence

2019 ◽  
Vol 7 ◽  
pp. 2050313X1983634
Author(s):  
Yoko Aoyagi ◽  
Kentaro Kai ◽  
Masahiro Sumie ◽  
Naoki Fujiyoshi ◽  
Yuichi Furukawa ◽  
...  
Keyword(s):  
Fetal Growth ◽  
Growth Retardation ◽  
Japanese Woman ◽  
Anatomical Location ◽  
Fetal Growth Retardation ◽  
Third Trimester ◽  
Arterial Perfusion ◽  
The Third ◽  
Acardiac Twin ◽  
Twin Reversed Arterial Perfusion

The dissemination of minimally invasive in utero surgery reduced the mortality of twin reversed arterial perfusion sequence, but the mortality of expectantly treated surgical candidates remains high. A 26-year-old, non-parous, Japanese woman at 13 weeks of gestation had been diagnosed with twin reversed arterial perfusion sequence and was judged as a surgical candidate for radiofrequency ablation. However, she did not undergo surgery because of the anatomical location of the acardiac twin. At 18 weeks of gestation, the blood flow to the acardiac twin disappeared spontaneously. The pump twin began to demonstrate fetal growth retardation during the third trimester. The patient delivered a 1891 g female at term. We macroscopically identified the cause of the fetal growth retardation as velamentous insertion of the umbilical cord and microscopically diagnosed the acardiac twin with acardiac acephalus. We should give the same attention to the management of post–twin reversed arterial perfusion sequence as twin reversed arterial perfusion sequence itself.

SEVERE GROWTH RETARDATION IN CHILDREN WITH INFLAMMATORY BOWEL DISEASE

PEDIATRICS ◽  
1970 ◽  
Vol 45 (3) ◽  
pp. 386-393
Author(s):  
Thomas D. McCaffery ◽  
Khosrow Nasr ◽  
A. M. Lawrence ◽  
Joseph B. Kirsner
Keyword(s):  
Inflammatory Bowel Disease ◽  
Growth Hormone ◽  
Corticosteroid Therapy ◽  
Growth Retardation ◽  
Bowel Disease ◽  
Gastrointestinal Symptoms ◽  
Hormone Response ◽  
The Third ◽  
Inflammatory Bowel ◽  
Severe Growth

From a group of 130 youngsters with inflammatory bowel disease, 22 were severely growth retarded (below the third percentile in height). This had preceded gastrointestinal symptoms for 1 to 11.4 years in 8 patients and corticosteroid therapy in 14. Endocrine evaluation demonstrated abnormally low 24-hour urinary gonadotropins in five of six patients more than age 16, and depressed growth hormone response to insulininduced hypoglycemia in 11 of 13 tested. Growth retardation in this group was attributed to a secondary hypopituitarism.

scholarly journals Third Case ofStreptococcus suisInfection in Greece

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Marianneta Chatzopoulou ◽  
Ioanna Voulgaridou ◽  
Dimitrios Papalas ◽  
Petros Vasiliou ◽  
Maria Tsiakalou
Keyword(s):  
Severe Disease ◽  
Clinical Manifestations ◽  
Human Case ◽  
Antimicrobial Treatment ◽  
Correct Identification ◽  
Zoonotic Potential ◽  
Emerging Pathogen ◽  
The Third ◽  
Epidemiological Monitoring ◽  
Facultative Anaerobic

Streptococcus suisis a facultative anaerobic, Gram-positive coccus that can cause severe disease to both pigs and humans. Its zoonotic potential was first recognized in 1968 when the first human case of meningitis was reported in Denmark. Since then, over 1600 human cases have been reported worldwide, the vast majority of which originated in Southeast Asia, and, thus,S. suishas been fairly characterized as an emerging pathogen. Infection in humans presents most commonly as bacteremia and/or meningitis while less common clinical manifestations such as endocarditis and septic arthritis can occur.S. suisinfection is extremely uncommon in Greece and this is the third human case to be reported. Correct identification is of importance for optimization of antimicrobial treatment and epidemiological monitoring.

Prenatal ultrasound diagnosis of adrenal gland hemorrhage: differential diagnosis

2019 ◽  
Author(s):  
N.A. Àltynnik
Keyword(s):  
Differential Diagnosis ◽  
Adrenal Gland ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Third Trimester ◽  
Male Fetus ◽  
Domestic Literature ◽  
The Third ◽  
The Right

The case of prenatal ultrasound diagnosis of hemorrhage in the right adrenal gland in a male fetus in the third trimester of pregnancy is presented. The data of foreign and domestic literature on the possibilities of differential diagnosis of volumetric formations in the adrenal gland in the fetus are analysed.

Limb Body Wall Complex and Sirenomelia in Twins

1994 ◽  
Vol 43 (1-2) ◽  
pp. 126-126
Author(s):  
R. Russo ◽  
R. Vecchione
Keyword(s):  
Lower Limb ◽  
Similar Pattern ◽  
Body Wall ◽  
Twin Pair ◽  
Urogenital Tract ◽  
Limb Defects ◽  
Amniotic Band ◽  
Limb Anomalies ◽  
Urogenital Anomalies

AbstractThe coexistence of Limb body wall complex (LBWC) and Sirenomelia sequence (SS) is present in only two studies in the literature on the topic. Tang et al (1991) and Martinez-Frias et al (1992) examined single fetuses and pointed out that the association of these two phenomena is extremely rare. The present study further contributes to the investigation and description of this particular association in a pair of twins. Both twins presented abdominal defects, urogenital anomalies and persistence of the primitive cloaca, but did not show craniofacial (CF) defects or amniotic band related defects. One twin had one leg only. In a previous study on LBWC we identified two morphologically and pathogenetically different phenotypes which, among other characteristics, are identifiable by the presence or absence of CF defects. (Russo et al. 1993; Russo et al. in press). Our twin pair belongs to the LBWC group without CF defects. This group, like SS cases, is usually characterized by the presence of lower limb anomalies. Aside from this, they also share a similar pattern of anomalies involving the urogenital tract and the cloaca. Analysis of the anomalies present in the twin pair leads us to suggest that the Sirenomelia pattern might be at the extreme end in a spectrum of lower limb defects within the LBWC group that does not present CF defects. In brief, we suggest that the coexistence of this LBWC type and SS is not related to the occurrence of two different defects but is the consequence of a common maldevelopmental process occurring during blastogenesis.

scholarly journals Unexplained shortening of the long bones in the third trimester as the only prenatal feature in a male fetus with 45,X/46,X,r(Y) mosaicism

2012 ◽  
Vol 51 (1) ◽  
pp. 134-138
Author(s):  
Chih-Ping Chen ◽  
Yi-Ning Su ◽  
Ming Chen ◽  
Fuu-Jen Tsai ◽  
Yi-Yung Chen ◽  
...  
Keyword(s):  
Long Bones ◽  
Third Trimester ◽  
Male Fetus ◽  
The Third
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