Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 8-year-old boy with an uncorrected ventricular septal defect, pulmonary stenosis, mental retardation, and gigantism died 24 hours after partial resection of a large right-sided Wilms' tumor. The presence of other abnormalities, including a small umbilical hernia and overgrowth of the external genitalia, raises the possibility that this case represents a variant of the Beckwith-Wiedemann syndrome. The typical facial features of Sotos' syndrome were not present. Gross examination of the surgical specimen revealed that tumor was present in the resected margin of left renal vein. Necropsy showed that death resulted from extensive cerebral infarction due to occlusion of the left internal carotid artery and its branches by tumor emboli. Paradoxical embolism had occurred during or soon after partial resection of the tumor mass due to passage of tumor fragments into the systemic circulation through the ventricular septal defect.
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PMID:Fatal paradoxical embolism to the left carotid artery during partial resection of Wilms' tumor. 132 57

A newly developed technique of brainstem stimulation was applied in 14 normal subjects and 23 patients with various neurological disorders. The electromyographic (EMG) responses of limb muscles following cortical, brainstem and cervical stimulation were recorded. The cortical-brainstem conduction time and brainstem-cervical conduction time were then calculated from the difference in latency between the two sites of stimulation. From the regression lines of the relationship between the normal conduction times in the first dorsal interosseous muscle and the length of the descending tracts, the site of activation by brainstem stimulation was estimated to lie near the cervical-medullary junction. The most distal lesion causing prolongation of cortical-brainstem conduction time was a small cerebral infarction in the lower pons. Herniation of the third cervical spinal disc was the most rostral lesion resulting in delayed brainstem-cervical conduction time and normal cortical-brainstem conduction time. These observations suggest that activation occurs at the level of the cervical-medullary junction where the pyramidal decussation lies. The conduction velocities of the activated tracts estimated from the regression lines for normal individuals were 57-92 m/s. In patients with supratentorial lesions, the threshold for brainstem stimulation was abnormally high. The abnormal findings in this test were correlated significantly with the clinical pyramidal signs. This suggests that the EMG responses elicited by brainstem stimulation are mediated mainly by the corticospinal tract. We conclude that the brainstem stimulation technique would be clinically useful for localization of lesions in the corticospinal tract; the primary lesion can be localized whether above or below the pyramidal decussation.
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PMID:Stimulation of corticospinal pathways at the level of the pyramidal decussation in neurological disorders. 148 70

Since 1973, 7667 neonates have been treated with extracorporeal membrane oxygenation for severe respiratory failure and their cases reported to the Extracorporeal Life Support Organization Registry. The overall survival was 81% in these neonates, who were thought to have a survival of 20% without extracorporeal membrane oxygenation. A total of 4322 mechanical complications (0.56 +/- 0.84 per case) and 13,827 patient complications (1.80 +/- 2.12 per case) were reported overall. The most common mechanical complications included clots in the circuit (19%), cannula placement (9%), oxygenator failure (4%), and others (9%). Common patient complications included cardiopulmonary (43%), neurologic (35%), bleeding (35%), metabolic (32%), renal (25%), and renal (25%), and infectious (9%). From the initial experience to 1988 the average number of mechanical complications per case was 0.27 per case and this significantly increased during 1990 to 1992 to 0.75 per case (p < 0.05). Likewise, from 1973-1985 to 1988 the average patient complications per case were 1.44 per case and this significantly increased during 1990 to 1992 to 2.10 per case. During the same periods, patient survival significantly decreased from 84% (1973-1985 to 1988, n = 2463) to 80% (1990 to 1992, n = 4005). Venovenous double-lumen single cannula extracorporeal membrane oxygenation had a higher survival than venoarterial extracorporeal membrane oxygenation (91% versus 81%) and a lower rate of major neurologic complications. The incidence and survival with seizures (6% and 89% venovenous versus 13% and 61% venoarterial) or cerebral infarction (9% and 69% venovenous versus 14% and 46% venoarterial) was significantly lower with the venovenous method and appeared to have a substantial impact on overall survival. The correlation of patient complication rate and total complication rate with survival was highly significant, however, causality cannot be established. Explanations for the increase in complications, relative to a decrease in survival, despite a growing nationwide experience include (1) increased complexity of cases as many programs expand entry criteria (more premature infants, infants with grade 1 or 2 intracranial hemorrhage, and complex congenital diaphragmatic hernia), (2) a growing number of programs with fewer cases per program, yet greater accessibility, (3) less reluctance to report complications encountered during extracorporeal membrane oxygenation as group experience grows, and (4) changes in the Extracorporeal Life Support Organization data form to be more inclusive of more minor complications.
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PMID:Complications of neonatal extracorporeal membrane oxygenation. Collective experience from the Extracorporeal Life Support Organization. 812 13

Coma or stroke with secondary brain malperfusion is usually considered a strong contraindication for emergent surgical treatment of acute aortic dissection. Herein, we present the case of a 30-year-old woman who presented with sudden left hemiplegia and level-7 coma on the Glasgow Coma Scale. Transthoracic echocardiography showed type A aortic dissection. Although the patient was unable to communicate, her family approved an emergency Bentall operation. She regained consciousness but developed anisocoria and Glasgow Coma Scale level-4 coma 30 hours after the operation. Computed tomography showed massive cerebral infarction with hernia of the uncus gyri hippocampi. Emergency surgical cerebral decompression was performed. The patient survived; after 1 year, she had full mental acuity and minor left motor sequelae.
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PMID:Combined cardiac-neurosurgical treatment of acute aortic dissection, stroke, and coma. 1861 54

Linkeropathies are a group of syndromes characterized by short stature, radio-ulnar synostosis, decreased bone density, congenital contractures and dislocations, joint laxity, broad digits, brachycephaly, small mouth, prominent eyes, short or webbed neck, congenital heart defects and mild developmental delay. Linkeropathies are due to enzymatic defects in the synthesis of the common linker region that joins the core proteins to their glycosaminoglycan (GAG) side chains. The enzyme glucuronyltransferase 1, encoded by B3GAT3, adds the last four saccharides comprising the linker region. Mutations in B3GAT3 have been reported in two unrelated families with the same homozygous mutation (c.830G>A, p.Arg277Gln). We report on a patient with a novel homozygous B3GAT3 (c.667G>A, p.Gly223Ser) mutation and a history of multiple fractures, blue sclerae, and glaucoma. Our patient was a 12-month-old boy born to consanguineous parents and, like previously reported patients, he had bilateral radio-ulnar synostosis, severe osteopenia, an increased gap between first and second toes, bilateral club feet, and atrial and ventricular septal defects. He had the additional features of bilateral glaucoma, hypertelorism, upturned nose with anteverted nares, a small chest, a diaphragmatic hernia, multiple fractures, arachnodactyly, overlapping fingers with ulnar deviation, lymphedema, hypotonia, hearing loss, and perinatal cerebral infarction with bilateral supra- and infratentorial subdural hematomas. We highlight the extended phenotypic range of B3GAT3 mutations and a provide comparative overview of the phenotypic features of the linkeropathies associated with mutations in XYLT1, B4GALT7, B3GALT6, and B3GAT3.
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PMID:A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes. 2608 40

Despite common injury caused by snakebite, snakebite-induced ischemic stroke is rare. We reported on a patient who incurred a large cerebral infarction after being bitten by a Deinagkistrodon acutus, one of the most poisonous snakes in the southwestern of China. Applying 3D computed tomography (CT) of head combined with cerebral angiography examinations showed a large cerebral infarction, hernia in the right brain, developmental abnormalities of the right middle cerebral artery and cerebral artery of right brain. In conclusion, head CT imaging combined with cerebral angiography provides an efficient approach in diagnosis of stroke caused by snakebites.
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PMID:Three-dimensional computed tomography reconstructive diagnosis of snakebite-induced cerebral infarction. 2948 Feb 39

Background: ECMO therapy is worldwide declining in the neonatal population; hence, its therapeutic value is sometimes questioned. Objectives: To report our experience with neonatal ECMO due to respiratory failure over a 28 year time period. Methods: Retrospective single center observational study including all neonates admitted to ECMO due to respiratory failure between 1989 and 2016 at Graz, Austria. Data were collected regarding survival rate, duration of ECMO, complications, length of hospital stay, changes over time, and follow-up. Results: Sixty-seven neonates were admitted and 43 (64%) needed ECMO-median birth weight 3390 grams (range 1810-4150) and gestational age 39 weeks (32-43). Survival rate was 65% (28/43); with higher rates in meconium aspiration syndrome (MAS) 89% vs. congenital diaphragmatic hernia (CDH) 46% and septic shock 44% (p = 0.005 and p = 0.006, respectively). ECMO duration was median 5 days (1-30) and veno-arterial ECMO (52%) dominated. Need for ECMO therapy decreased over time (p < 0.001). Complications occurred in 31 (72%) neonates. Five neonates had cerebral hemorrhages (11.4%) and four had cerebral infarction (9.1%). Of 26 survivors 17 (65%) showed normal neurodevelopmental outcome at median follow-up of 73 months. Motor deficits were present in one case, cognitive deficits in 9 (35%). Median length of hospital stay was 78 days in those with deficits and 29 in those with normal neurodevelopmental outcome (p < 0.001). Conclusions: Survival rate did not change over the study time but indications for ECMO did. Cognitive impairment was the major long-term deficit following neonatal ECMO being associated with longer hospital stay.
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PMID:Neonatal Extracorporeal Membrane Oxygenation Due to Respiratory Failure: A Single Center Experience Over 28 Years. 3032 47

To review our experience with Extra-Corporeal Membrane Oxygenation (ECMO) for respiratory support in neonates. From 1989 to 2018 2114 patients underwent respiratory ECMO support, with 764 (36%) neonates. Veno-Venous (V-V) cannulation was used in 428 (56%) neonates and Veno-Arterial (V-A) in 336 (44%). Historically V-V ECMO was our preferred modality, but due to lack of suitable cannula in the last 7 years V-A was used in 209/228 (92%) neonates. Mean and inter-quartile range of ECMO duration was 117 hours (inter-quartile range 90 to 164 hours). Overall 724 (95%) neonates survived to ECMO decannulation, with 640 (84%) hospital discharge. Survival varied with underlying diagnosis: meconium aspiration 98% (354/362), persistent pulmonary hypertension 80% (120/151), congenital diaphragmatic hernia 66% (82/124), sepsis 59% (35/59), pneumonia 86% (6/7), other 71% (43/61). Survival was 86% with V-V and 80% with V-A cannulation, better than ELSO Registry with 77% V-V and 63% V-A. Major complications: cerebral infarction/hemorrhage in 4.7% (31.1% survival to discharge), renal replacement therapy in 17.6% (58.1% survival to discharge), new infection in 2.9%, with negative impact on survival (30%). Following a circuit design modification and subsequent reduction in heparin requirement, intracerebral hemorrhage decreased to 9/299 (3.0%) radiologically proven cerebral infarction/hemorrhage. We concluded (1) outcomes from neonatal ECMO in our large case series were excellent, with better survival and lower complication rate than reported in ELSO registry. (2) These results highlight the benefits of ECMO service in high volume units. (3) The similar survival rate seen in neonates with V-A and V-V cannulation differs from the ELSO register; this may reflect the change in cannulation enforced by lack of suitable V-V cannula and all neonates undergoing V-A cannulation.
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PMID:Extra-Corporeal Membrane Oxygenation for Neonatal Respiratory Support. 3242 77