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Surgery, Gynecology & Obstetrics Oct 1992Wandering spleen is an unusual entity, occurring in both sexes and at any age, but is more frequent in women of reproductive age and in children. Wandering spleen is... (Review)
Review
Wandering spleen is an unusual entity, occurring in both sexes and at any age, but is more frequent in women of reproductive age and in children. Wandering spleen is probably most often a result of congenital anomalies of development of the dorsal mesogastrium, but acquired factors may have a role in certain instances. Patients present most commonly with an asymptomatic mass, mass and subacute abdominal or gastrointestinal complaints or with acute abdominal findings. Clinical diagnosis can be difficult, but noninvasive imaging procedures, such as sonography, nuclear scintigraphy, computed tomography and magnetic resonance imaging are usually diagnostic. Laboratory tests are usually nonspecific, but may occasionally reveal evidence of hypersplenism or functional splenia. Symptoms may remain limited or absent for long periods of time, but complications related to torsion or compression of abdominal organs by the spleen or the pedicle are quite common. Splenomegaly is usually a result of torsion of the pedicle and splenic sequestration. Significant morbidity and mortality rates seem to be considerably less than described in 1933 and limited primarily to patients presenting initially with acute abdominal findings. Management recommendations have varied, but recognition of a significant risk of postsplenectomy sepsis supports a conservative approach. Patients with limited symptomatology may be medically managed until they exhibit worsening symptoms indicating progressive splenic torsion or gastrointestinal compression. Detorsion and splenopexy may be considered a reasonable surgical option even in patients presenting with acute abdomen, if there is no evidence of infarction, thrombosis or hypersplenism. Splenic preservation is especially recommended in extremely young patients who are at particular risk for postsplenectomy sepsis. However, it should be noted that follow-up evaluation data on splenopexy patients are notably lacking. Splenectomy is ideally reserved for patients presenting with acute abdomen and splenic infarction or thrombosis or with hypersplenism and patients in whom splenopexy is technically unfeasible. Subtotal splenectomy and splenic autotransplantation may be of limited value. Pneumococcal, Hemophilus and meningococcal vaccines are indicated before elective splenectomy and shortly after nonelective splenectomy. Antibiotic prophylaxis is recommended for those at particular risk. Prospective studies are unlikely, but extended follow-up information on patients already reported, particularly those managed expectantly or with conservative surgical measures, is needed.
Topics: Congenital Abnormalities; Female; Humans; Male; Spleen
PubMed: 1411897
DOI: No ID Found -
Annals of the Academy of Medicine,... Mar 1995A case is described of a nine-year-old girl with a bilateral and symmetrical congenital absence of incus. This very rare abnormality has been described only once... (Review)
Review
A case is described of a nine-year-old girl with a bilateral and symmetrical congenital absence of incus. This very rare abnormality has been described only once previously in the literature. Although the pathology may be rare, treatment is straightforward and prognosis good. A discussion of middle ear embryology and a review of the literature is presented.
Topics: Child; Congenital Abnormalities; Female; Hearing Loss, Conductive; Humans; Incus
PubMed: 7653982
DOI: No ID Found -
The Veterinary Clinics of North... Jul 1994When faced with the question of what you should do as a veterinary practitioner, when presented with a congenital defect in a llama, one answer is to seek qualified help... (Review)
Review
When faced with the question of what you should do as a veterinary practitioner, when presented with a congenital defect in a llama, one answer is to seek qualified help from your state veterinary diagnostic laboratory. But most importantly, encourage the owners of such animals to report the defect to their llama association, including pedigree information. The better we understand the pathogenesis of such defects, the better we will be able to control their incidence.
Topics: Animals; Camelids, New World; Congenital Abnormalities; Female; Male
PubMed: 7953971
DOI: 10.1016/s0749-0720(15)30572-7 -
Cirugia Y Cirujanos 2015Gallbladder agenesis is a very rare congenital abnormality of the biliary tract. The diagnosis is made during surgery, because all preoperative studies have failed to... (Review)
Review
BACKGROUND
Gallbladder agenesis is a very rare congenital abnormality of the biliary tract. The diagnosis is made during surgery, because all preoperative studies have failed to identify this malformation. The purpose of this article is to present a case of gallbladder agenesis diagnosed during surgery, its management, and a review of the literature.
CLINICAL CASE
The case involves a sixty-two year- old female, referring to repeated biliary colic symptoms. The abdominal ultrasound diagnosed cholelithiasis. It was impossible to identify the gallbladder during surgery. Diagnosis was confirmed by intra-operative cholangiography.
DISCUSSION
Preoperative diagnostic workup has failed to recognise patients with gallbladder agenesis. It is currently recommended to abandon the surgery once this diagnosis is suspected and confirm it by a cholangio-magnetic resonance scan in order to avoid a bile duct injury.
CONCLUSIONS
Agenesis of the gallbladder is a rare congenital abnormality of the biliary tree. Every surgeon must keep this rare entity in mind when a "difficult dissection" or an anatomic variant is identified during surgery, and make use of an intra-operative cholangiography, mainly to prevent a bile duct injury.
Topics: Biliary Tract Diseases; Cholangiography; Cholecystectomy, Laparoscopic; Cholelithiasis; Colic; Congenital Abnormalities; Cystic Duct; Diagnostic Errors; Female; Gallbladder; Humans; Intraoperative Care; Middle Aged; Postoperative Complications; Ultrasonography
PubMed: 26162488
DOI: 10.1016/j.circir.2015.05.043 -
Lancet (London, England) Mar 1987
Topics: Adult; Congenital Abnormalities; Eye Abnormalities; Female; Fetal Diseases; Humans; Parvoviridae Infections; Pregnancy; Pregnancy Complications, Infectious
PubMed: 2882099
DOI: 10.1016/s0140-6736(87)90442-9 -
Advances in Neonatal Care : Official... Aug 2016Approximately 6% of births worldwide, 7.9 million children, are born with a serious genetic congenital abnormality each year. A factor thought to increase the prevalence... (Review)
Review
BACKGROUND
Approximately 6% of births worldwide, 7.9 million children, are born with a serious genetic congenital abnormality each year. A factor thought to increase the prevalence of birth defects is parental consanguinity, which is a social custom practiced in at least 20% of the world's population.
PURPOSE
The purpose of this article is to explore the relationship between consanguinity and congenital defects. This article also aims to enhance neonatal healthcare practitioners' comprehension of its implications for practice and research.
METHODS
A review of literature was compiled from a search of the online databases Cumulative Index of Nursing and Allied Health (CINAHL), PubMed, EBSCO MegaFILE, and Google Scholar.
RESULTS
Literature pertinent to this topic primarily consists of research studies that examine the inbreeding depression phenomenon through comparison of the prevalence of birth defects among the offspring of consanguineous and nonconsanguineous couples. Current studies indicate that the progeny of consanguineous couples are at an increased risk of congenital defects compared with those of nonconsanguineous couples.
IMPLICATIONS FOR PRACTICE
Consanguinity is one risk factor among many that can lead to a major birth defect. Relationships between consanguineous populations and neonatal healthcare practitioners such as registered nurses, advanced practice nurses, and physicians could significantly alter neonatal health outcomes. Specific recommendations such as genetic counseling and therapeutic communication are discussed.
IMPLICATIONS FOR RESEARCH
Further studies need to investigate the connection between consanguinity and birth defects while controlling for nongenetic variables. Moreover, a focus on consanguineous communities in the United States would prove beneficial.
Topics: Congenital Abnormalities; Consanguinity; Female; Humans; Infant Care; Infant, Newborn; Male; Neonatal Nursing; Prevalence
PubMed: 27391567
DOI: 10.1097/ANC.0000000000000317 -
Paediatric Respiratory Reviews Feb 2020A laryngotracheoesophageal cleft (LC) is a rare congenital anomaly of the upper aerodigestive tract resulting from the absence of fusion of the posterior cricoid lamina,... (Review)
Review
A laryngotracheoesophageal cleft (LC) is a rare congenital anomaly of the upper aerodigestive tract resulting from the absence of fusion of the posterior cricoid lamina, which affects an abnormal communication between the larynx, trachea and esophagus. The genetic etiology of LC remains elusive. The involvement of genetic factors in the development of LC is suggested by reports of familial occurrence, and the increased prevalence of component features among first-degree relatives of affected individuals and murine knockout models. No consistent pattern of inheritance has been found in nonsyndromic patients, except for cases associated with described syndromes. Once the syndrome related to the laryngeal cleft is considered, an active search for the cleft must be initiated. The genetic evaluation of patients with LCs should be guided by the type and location of the malformation, specific medical history and a detailed physical examination. The application of genetic approaches, such as microarrays and exome sequencing might lead to elucidating the etiology of LCs.
Topics: Anal Canal; Arthrogryposis; CHARGE Syndrome; Congenital Abnormalities; Craniofacial Abnormalities; DiGeorge Syndrome; Ear; Ear Diseases; Esophagus; Heart Defects, Congenital; Humans; Hypertelorism; Hypopituitarism; Hypospadias; Intellectual Disability; Kidney; Larynx; Limb Deformities, Congenital; Pallister-Hall Syndrome; Spine; Trachea
PubMed: 31734186
DOI: 10.1016/j.prrv.2019.09.004 -
Lancet (London, England) Feb 1975
Topics: Congenital Abnormalities; Female; Fetal Diseases; Humans; Placental Lactogen; Pregnancy; Prenatal Diagnosis
PubMed: 46413
DOI: 10.1016/s0140-6736(75)91170-8 -
HPB Surgery : a World Journal of... 1996The removal of acalculous and not acutely inflamed gall-bladder in patients with typical biliary pain remains a questionable procedure. This study was conducted to...
The removal of acalculous and not acutely inflamed gall-bladder in patients with typical biliary pain remains a questionable procedure. This study was conducted to present our experience. In the period 1982-90, 1089 cases of calculous and acalculous gallbladder disease were treated in our clinic. In this period, 27 patients were subjected to cholecystectomy because of an acalculous, non inflamed gallbladder which was elongated lying in an abnormal position with a long cystic duct. The mean duration of symptoms supportive of cholelithiasis, was 5 years. Oral cholecystogram and ultrasonography led to the diagnosis and other causes of chronic abdominal pain were excluded. There were 13 lumbar, 9 pelvic and 5 iliac gallbladders, with poor function in 20 of them. During cholecystectomy, the organ was invested by peritoneum and suspended in 7 cases from a mesentery. On pathological examination mild chronic inflammation was reported in 19 cases and minimal changes in 8. The minimum follow up was one year and the maximum 9 years. Complete relief of symptoms was achieved in all the cases. In conclusion, cholecystectomy should be offered in these symptomatic "hanging" gallbladders.
Topics: Adult; Aged; Cholecystectomy; Cholecystitis; Congenital Abnormalities; Female; Gallbladder; Humans; Male; Middle Aged
PubMed: 8725452
DOI: 10.1155/1996/60802 -
British Medical Journal Apr 1978In a prospective survey neural tube defects and other congenital abnormalities were studied in the babies born to 510 mothers ascertained during pregnancy. The women...
In a prospective survey neural tube defects and other congenital abnormalities were studied in the babies born to 510 mothers ascertained during pregnancy. The women were divided into two groups according to the outcome of their immediately preceding pregnancy. Those whose preceding pregnancy had resulted in a spontaneous abortion (256 women) formed the index cases; those in whom the outcome had been a normal baby (254 women) served as controls. There was a highly significant increased number of congenital abnormalities in the index cases. This may possibly be explained by the trophoblastic "rest" hypothesis and suggests that spontaneous abortions are more relevent to congenital abnormalities than has been thought.
Topics: Abortion, Spontaneous; Anencephaly; Attitude; Congenital Abnormalities; Female; Humans; Pregnancy; Prospective Studies; Spina Bifida Occulta; Time Factors
PubMed: 638578
DOI: 10.1136/bmj.1.6119.1016