-
Acta Bio-medica : Atenei Parmensis Sep 2019Congenital hypothyroidism is a condition in which the thyroid gland does not produce enough thyroid hormones. It occurs in 1:2000-4000 newborns. Common clinical features... (Review)
Review
Congenital hypothyroidism is a condition in which the thyroid gland does not produce enough thyroid hormones. It occurs in 1:2000-4000 newborns. Common clinical features include decreased activity and increased sleep, feeding difficulty, constipation, prolonged jaundice, myxedematous facies, large fontanels (especially posterior), macroglossia, distended abdomen with umbilical hernia, and hypotonia. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Without treatment, congenital hypothyroidism leads to severe intellectual deficit and short stature. Congenital hyperthyroidism occurs when the thyroid gland produces too much of the hormone thyroxine, which can accelerate body metabolism, causing unintentional weight loss and a rapid or irregular heartbeat. Hyperthyroidism is very rare and its prevalence is unknown. Common clinical features include unintentional weight loss, tachycardia, arrhythmia, palpitations, anxiety, tremor and sweating. Here we summarize the genes involved in congenital hypo- and hyperthyroidism and the tests we use for genetic analysis.
Topics: Congenital Hypothyroidism; Genetic Predisposition to Disease; Genetic Testing; High-Throughput Nucleotide Sequencing; Humans; Hyperthyroidism
PubMed: 31577260
DOI: 10.23750/abm.v90i10-S.8765 -
The British Journal of Surgery Oct 2021The definition, classification and management of rectus diastasis (RD) are controversial in the literature and a variety of different surgical treatments have been...
BACKGROUND
The definition, classification and management of rectus diastasis (RD) are controversial in the literature and a variety of different surgical treatments have been described. This article reports on the European Hernia Society (EHS) Clinical Practice Guideline for RD.
METHOD
The Guideline group consisted of eight surgeons. The Grading of Recommendation, Assessment, Development and Evaluation (GRADE) approach and the Appraisal of Guidelines for Research and Evaluation (AGREE) instrument were used. A systematic literature search was done in November 2018 and updated in November 2019 and October 2020. Nine Key Questions (KQs) were formulated.
RESULTS
Literature reporting on the definition, classification, symptoms, outcomes and treatments was limited in quality, leading to weak recommendations for the majority of the KQs. The main recommendation is to define RD as a separation between rectus muscles wider than 2 cm. A new classification system is suggested based on the width of muscle separation, postpregnancy status and whether or not there is a concomitant hernia. Impaired body image and core instability appear to be the most relevant symptoms. Physiotherapy may be considered before surgical management. It is suggested to use linea alba plication in patients without concomitant hernia and a mesh-based repair of RD with concomitant midline hernias.
CONCLUSION
RD should be defined as a separation of rectus muscles wider than 2 cm and a new classification system is suggested.
Topics: Hernia, Umbilical; Hernia, Ventral; Herniorrhaphy; Humans; Physical Therapy Modalities; Postoperative Care; Rectus Abdominis; Surgical Mesh
PubMed: 34595502
DOI: 10.1093/bjs/znab128 -
Colombia Medica (Cali, Colombia) 2021gastroschisis is a congenital structural defect of the abdominal wall, most often to the right of the umbilicus, through which the abdominal viscera protrude. Its... (Review)
Review
gastroschisis is a congenital structural defect of the abdominal wall, most often to the right of the umbilicus, through which the abdominal viscera protrude. Its developmental, etiological and epidemiological aspects have been a hot topic of controversy for a long time. However, recent findings suggest the involving of genetic and chromosomal alterations and the existence of a stress-inducing pathogenetic pathway, in which risk factors such as demographic and environmental ones can converge. To expand the frontier of knowledge about a malformation that has showed a growing global prevalence, we have conducted a review of the medical literature that gathers information on the embryonic development of the ventral body wall, the primitive intestine, and the ring-umbilical cord complex, as well as on the theories about its origin, pathogenesis and recent epidemiological evidence, for which we consulted bibliographic databases and standard search engines.
Topics: Abdominal Wall; Female; Gastroschisis; Humans; Pregnancy; Prevalence; Risk Factors
PubMed: 35431359
DOI: 10.25100/cm.v52i3.4227 -
Gastroenterology Research Aug 2022Flood syndrome refers to the exsanguination of ascitic fluid following the spontaneous rupture of an umbilical hernia, and is a rare complication of liver cirrhosis with...
Flood syndrome refers to the exsanguination of ascitic fluid following the spontaneous rupture of an umbilical hernia, and is a rare complication of liver cirrhosis with ascites. In this case report, we describe a 67-year-old patient with Flood syndrome who was initially managed conservatively in a community hospital run by primary care physicians, prior to transfer to a tertiary hospital for specialist surgical review and management. We also performed a literature review of the current treatment modalities to manage this condition.
PubMed: 36128184
DOI: 10.14740/gr1508 -
Archives of Plastic Surgery Jul 2019Umbilical preservation can be challenging, particularly in complex cases involving simultaneous ventral hernia repair and abdominoplasty. Although the umbilicus serves...
Umbilical preservation can be challenging, particularly in complex cases involving simultaneous ventral hernia repair and abdominoplasty. Although the umbilicus serves no functional purpose, removal of the umbilicus can draw unwanted attention to the abdominal area and can cause emotional distress to patients. There are several well documented options for umbilical reconstruction. We present a new umbilical reconstruction technique relevant for such cases. This neoumbilicoplasty allows for preservation of the original umbilicus with relocation and reconstruction using local flaps. The technique is relatively simple and the time needed is minimal. The result is a natural, well positioned umbilicus using the principles of spare part surgery.
PubMed: 30940794
DOI: 10.5999/aps.2018.00794 -
Cureus May 2020Umbilical hernia is a common cause for patient presentation to the surgeon, often on a nonemergent basis for a bulge at or lateral to the umbilicus but occasionally...
Umbilical hernia is a common cause for patient presentation to the surgeon, often on a nonemergent basis for a bulge at or lateral to the umbilicus but occasionally under emergency circumstances for pain or bowel obstruction when the hernia contents become incarcerated or strangulated. Risk factors for umbilical hernia include female gender, obesity, and ascites. A defect in the abdominal wall fascia at the umbilicus allows the preperitoneal adipose tissue, omentum, or small or large bowel to protrude through the defect. Rarely described is herniation of the appendix through an umbilical hernia, though appendix-containing femoral hernia (de Garengeot hernia) and appendix-containing inguinal hernia (Amyand hernia) are more common. There are 10 available case reports in the medical literature that describe an appendix-containing umbilical hernia; in this case report, we present the 11th case report of appendicitis within an umbilical hernia.
PubMed: 32542130
DOI: 10.7759/cureus.8075