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991.
Madeleine Tooley Danielle Lynch Francois Bernier Jillian Parboosingh Elizabeth Bhoj Elaine Zackai Alistair Calder Nobue Itasaki Emma Wakeling Richard Scott Melissa Lees Jill Clayton‐Smith Moira Blyth Jenny Morton Debbie Shears Usha Kini Tessa Homfray Angus Clarke Angela Barnicoat Colin Wallis Rebecca Hewitson Amaka Offiah Michael Saunders Simon Langton‐Hewer Tom Hilliard Peter Davis Sarah Smithson 《American journal of medical genetics. Part A》2016,170(5):1115-1126
992.
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994.
Factor XIII deficiency, an autosomal recessive trait, can result in serious bleeding manifestation. This case report presents
two brothers with Factor XIII deficiency. Though the younger sibling had been screened and diagnosed prophylactic replacement
therapy had not been initiated unlike the elder brother. He presented with intracranial haemorrhage needing surgical evacuation
while the elder brother remained symptom free on regular prophylactic replacement of FFP. 相似文献
995.
996.
Background
Support during pregnancy is mainly directed towards pregnant women, although parenthood is viewed as a joint project by society and by parents themselves. Research has shown that fathers often feel excluded by health care professionals. The aim of the present study was to describe personal and professional sources of support used by prospective and new fathers and to study factors associated with fathers having no support from anyone in mid-pregnancy.Methods
This was a prospective longitudinal study of 655 new fathers living in a northern part of Sweden who completed four questionnaires.Results
The majority of fathers reported having good personal support at most time points, but 18% reported that they did not have support from anyone, when asked in mid-pregnancy. A logistic regression analysis showed that the following factors were associated with not receiving support from anyone: having previous children (odds ratio (OR) = 3.4; 95% confidence interval (CI) = 1.7–7.0, P <0.001), expectations from the midwife to attend antenatal visits (OR = 1.9; 95% CI = 1.1–3.4, P <0.05), not attending parent education classes (OR = 2.3; 95% CI = 1.1–4.8, P <0.05), not feeling involved by the prenatal midwife (OR = 1.9; 95% CI = 1.1–3.3, P <0.05), and not being offered the opportunity to attend fathers’ groups (OR = 3.5; 95% CI = 1.1–12.3, P <0.05).Conclusion
Although personal support seemed satisfying for the majority of fathers, those with no support from close family/friends also lacked support from midwives as well in terms of the organization of care. 相似文献997.
Background
The effectiveness of mannitol as an osmotherapeutic agent has never been subjected to a controlled clinical trial against placebo. Excessive use of mannitol in brain trauma patients can result in hyperosmolar states, hyper-natremia and renal failure. This prospective study was conducted to evaluate the institutional protocol of using mannitol and assess its effects on serum osmolality.Method
Thirty patients with brain injury were included in the study. All the patients were given 100mL of 20% mannitol three times a day as bolus infusion over 20-30 minutes. Serum osmolality was measured at 12 hourly intervals using Fiske osmometer. Mannitol administration was stopped whenever serum osmolality reached ≤320mOsmol/Kg H2O. The total dose and duration of mannitol used to reach target osmolality of ≤320mOsmol/Kg H2O was recorded.Results
On 33% of all occasions, the patients had a serum osmolality which was in excess of the desired values (i.e. ≤320mOsmol/Kg H2O). This indicates that the standard protocol of administering 20% mannitol 100 mL three times a day for more than 48 hours is perhaps excessive.Conclusion
The mannitol therapy should be guided by 12 hourly measurement of serum osmolality. Mannitol should be used for 48 hours only if facilities for measuring serum osmolality are not available. 相似文献998.
Sarangapani A Kini R Chitra S Pugazhendhi T Jeevan Kumar S 《The Indian journal of surgery》2011,73(4):307-308
Intramural metastasis to the stomach (IMMS) from carcinoma esophagus, excluding direct invasion and spread to the stomach,
is relatively uncommon. Diagnosis of IMMS is based on histological criteria, and it is associated with poor prognosis (Takubo
et al. Cancer 65:1816–1819, 1990]. We report two patients of SCC oesophagus in whom intramural metastasis to stomach has occurred. 相似文献
999.
Halli RC Mishra S Kini YK Kharkar VR Hebbale MA 《The Journal of craniofacial surgery》2011,22(3):1035-1038
Lateral orbitotomy is a well-known approach in the surgical management of lesions in the lateral orbital regions. It is still appropriate for laterally situated tumors, although contemporary cranial base approaches were defined and developed within the last decades. The extent of lateral orbitotomy should depend on the size, consistency, and nature of the lesion for easy surgical removal and reconstruction thereafter. In this regard, contrast-enhanced computed tomographic scans provide useful information for operative strategy. Although there is a wide range of histopathologic diagnosis for orbital tumors, lateral orbitotomy is a safe approach, particularly if the lesions are extraconal. We present a case of pleomorphic adenoma of lacrimal gland managed by a modified lateral orbitotomy approach with pleasing results. 相似文献
1000.
Joss S Kini U Fisher R Mundlos S Prescott K Newbury-Ecob R Tolmie J 《European journal of medical genetics》2011,54(3):151-305
Ulnar Mammary syndrome (UMS) is an autosomal disorder caused by haploinsufficiency of the TBX3 gene. There is marked intrafamilial variation in expression of the syndrome. We present one three generation family in which the proband has absence of the right ulna and third, fourth and fifth rays in her right hand. Her mother and maternal grandmother have more subtle anomalies while all have a similar facial appearance with a broad nasal tip, a broad jaw, a prominent chin and a tongue frenulum. They have a single base pair insertion (c. 992dup) in TBX3. We compare faces from the handful of published UMS patients which include photographs, this family and four other cases with TBX3 mutations. All have similarities in appearance which we suggest could alert clinicians to the possibility of a TBX3 mutation if individuals present with more subtle features of UMS such as postaxial polydactyly, isolated 5th finger anomalies, delayed puberty in males, breast hypoplasia or short stature with or without growth hormone deficiency. 相似文献