Diagnosis of depth of invasion of gallbladder carcinoma with endosonography

We reported on the usefulness of endosonography (EUS) in the diagnosis of the depth of invasion of gallbladder carcinoma. We performed EUS on 69 patients with gallbladder carcinoma: the degree of tumor extension in 17 was m (tumor invading the mucosa), in 5 pm (tumor invading the muscular layer), in 21 ss (tumor invading the subserosa), 14 in se (tumor invading the serosa), and 12 si (tumor extending to adjacent organs). The detection rate of tumors with EUS was 91.3% (63 of 69). All 6 (100%) patients with pedunculated lesions (Ip type) were correctly diagnosed with EUS. Eighteen of 21 patients (85.7%) with broad-based elevated tumors (Is type), and 5 of 7 (71.4%) with flat-elevated lesions (IIa type) were also diagnosed correctly. EUS is a useful modality for the diagnosis of gallbladder carcinoma. In particular, EUS diagnosis of the depth of invasion is reliable in Ip-type lesions. It is recommended that patients with Ip-type lesions undergo laparoscopic cholecystectomy, but in patients with Is-or IIa-type lesions conventional cholecystectomy with lymph node resection should be performed.     

Imaging of thoracic aortic dissection

Acute thoracic aortic dissection has a high mortality if untreated, so the diagnosis must be rapidly made if mortality is to be lowered significantly. Multiple imaging techniques are often used. This retrospective study from 1988 to 1993 assesses the usefulness in diagnosis of chest X-rays, computed tomography (CT) scanning, aortography, magnetic resonance imaging (MRI), trans-thoracic (TTE) and trans-oesophageal (TOE) echocardiography. Forty-two patients with a final clinical diagnosis of dissection were studied. The diagnosis was confirmed in 16 (13 at surgery and three at autopsy). Three died with dissection given as the only cause for death. Chest X-ray abnormalities were seen in all 19 patients with surgery or death from dissection, with a widened mediastinum and/or dilated aorta being present in 17. In the group of 16 patients with surgery or autopsy proof, CT scans found dissections in 9 of 12 patients studied and correctly classified the type in only five. Aortography was performed in five, with accurate depiction of dissection and type in all. TTE found dissections in three of eight patients imaged by this method. MRI and TOE were performed each on two patients, with accurate depiction of dissection and type in each. Because of the relatively low sensitivity of CT scanning in defining aortic dissections Westmead Hospital is currently assessing the use of TOE as the prime imaging modality prior to surgical intervention.     

Congenital nephrotic syndrome: a novel phenotype of type I carbohydrate-deficient glycoprotein syndrome

Type I carbohydrate-deficient glycoprotein (CDG) syndrome is a genetic multisystem disorder generally without overt renal problems. We report a neonate with neurological abnormalities and congenital nephrotic syndrome of diffuse mesangial sclerosis type. Serum transferrin isoelectric focusing showed the typical abnormalities of type I CDG syndrome. Normal transferrin focusing findings in other patients with similar renal problems excluded the possibility of a secondary biochemical phenomenon. The diagnosis of type I CDG syndrome was confirmed by demonstration of a deficiency of phosphomannomutase. No evidence of pontocerebellar atrophy was found in imaging or at autopsy. We conclude that congenital nephrotic syndrome may occur in type I CDG syndrome, and that this diagnosis should be considered in patients with congenital nephrotic syndrome. Absence of pontocerebellar atrophy does not exclude the diagnosis of type I CDG syndrome.     

Male cases of incontinentia pigmenti: case report and review

Male patients with Bloch-Sulzberger incontinentia pigmenti (IP type II) are rare and more severely affected than their female counterparts, with a significant occurrence of sex chromosome aneuploidy. This document introduces a new male IP type II patient and reviews 48 males reported with IP. Twenty-eight of the 49 patients meet current criteria for diagnosis of IP type II. The phenotype is variable and the incidence of documented developmental delay is 25%. Five patients had Klinefelter syndrome (47,XXY). Most patients were reported prior to 1961 when chromosome analysis was not available. Biopsy and laboratory reports considered to be "consistent with" the diagnosis of IP were seen in patients meeting criteria as well as those who would not currently be given the diagnosis. The histologic findings considered diagnostic are varied. This variability may be accounted for by differences in stage of disease, biopsy site, histologic technique, and reporting style. Conversely, this may indicate that the diagnostic weight given to the biopsy should be reconsidered. Eosinophilia was not a consistent finding. Overall, differences in reporting, ascertainment, and length of follow-up lead to difficulty in interpreting or predicting the natural history of males with IP type II. Based on the existing literature, they appear to have a higher rate of mental retardation than the general population, but there does not appear to be a correlation between severity of physical and mental involvement. The presence of sex chromosome aneuploidy documented in the more recent cases emphasizes the need for chromosome analysis in any male patient suspected of IP type II.     

Eye complications in diabetes. According to new criteria patients with diabetes should have ophthalmological examination at the time of diagnosis

Diabetic retinopathy is still the most common cause of blindness among people under 65 years of age in the Western world. Early detection of sight-threatening retinopathy is vital, as in many cases it can be treated successfully with photocoagulation. Accordingly, screening programmes using fundus photography have been introduced in many countries, and in Sweden repeat examination at two-year intervals has been recommended. Since up to 30 per cent of patients with type 2 diabetes (according to the previous criteria) have been shown to manifest diabetic retinopathy at diabetes diagnosis, an initial ophthalmological examination at diagnosis is recommended. The new diagnostic criteria for diabetes, according to which patients with fasting blood glucose levels of 6.1 (6.6 mmol/L are also classed as diabetic, will increase the number of diabetic patients. Until such information becomes available as to the prevalence of sight-threatening retinopathy at diabetes diagnosis in that subgroup, it is suggested that type 2 diabetes patients should continue to undergo retinal examination at diabetes diagnosis.     

Lissencephaly syndromes: clinical aspects

We report clinical and neurophysiological findings in six children (three female, three male) with type I lissencephaly and three children (all female) with type II lissencephaly (Walker-Warburg syndrome). In type I lissencephaly the diagnosis is based only on electroencephalographic (EEG) signs, whereas in type II lissencephaly the diagnosis rests on clinical signs. In type I lissencephaly the EEG typically shows high alpha-beta activity, which is not seen in type II lissencephaly.     

Sarcoid myopathy: imaging findings

Sarcoidosis is a granulomatous multisystem disorder that may uncommonly involve muscle. Muscular sarcoid may be nodular, atrophic myopathic, or acute myositic. We illustrate a case of the myopathic type of muscular sarcoid that is unusual because the abdominal wall muscles, rather than the extremity muscles, were involved. Muscular involvement by sarcoid should be considered in the differential diagnosis of focal muscle disease, especially in a patient with a known history of sarcoid. The presence of typical bilateral hilar adenopathy on a chest radiograph as well as the presence of abdominal findings (hepatosplenomegaly and retroperitoneal adenopathy) may help establish the diagnosis. Otherwise, sonographically guided biopsy may be necessary for definitive diagnosis.     

Accumulation of cadmium in and its effect on bank vole tissues after chronic exposure

Primary adrenal lymphoma (PAL) is extremely uncommon. We describe a case of clinically silent non-Hodgkin's B-cell lymphoma of diffuse large cell type with exclusive left adrenal localization. The tumor was discovered by computed tomography (CT) as a 2.5-cm dense mass and diagnosed at autopsy. Literature concerning this unusual neoplasm is reviewed. During the early stage, particularly when the lesion is small, PAL is likely to be missed. This unusual entity should be included in the differential diagnosis of adrenal masses so that early diagnosis may be made and intervention might dramatically affect the clinical outcome.     

Hyperkinetic syndrome (attention deficit-/hyperactivity disorder) in adulthood

The clinical picture of adult hyperkinetic syndrome (HKS) or attention deficit/hyperactivity disorder is nearly unknown in Germany. It can be estimated, that approximately one third of affected children also show symptoms as adults. In the combined type of the syndrome symptoms of inattention as well as of hyperactivity and impulsivity are present, a predominantly inattentive or hyperactive-impulsive type is possible. Retrospective diagnosis of HKS in childhood can be difficult. Disorganization, emotional disturbances and stress intolerance are common in adults with HKS as well as residual symptoms of learning disorders like dyslexia, dyscalculia and dysgraphia. In differential diagnosis especially affective, anxiety and antisocial personality disorders have to be considered, for which on the other side a frequent comorbidity with HKS is known. There is strong evidence for genetic transmission. Neurobiological findings revealed dysregulation of neurotransmitters. For treatment stimulants as pemoline and methamphetamin are effective, in addition tricyclic antidepressants or beta blockers; positive effects are probable for moclobemide, bupropion, fluoxetine and venlafaxine.     

Vascular patterns of gestational trophoblastic tumors by color Doppler ultrasound

BACKGROUND: Destruction of uterine vasculature is a common phenomenon in gestational trophoblastic tumors. The authors categorized such uterine vasculature by color Doppler ultrasound and studied its clinical significance. METHODS: Color Doppler ultrasound was performed in 28 patients with gestational trophoblastic tumors. The vascular morphologic manifestations were recorded, and the peak systolic velocity and resistance index of uterine artery were calculated. Serum beta-human chorionic gonadotropin (hCG) levels were measured periodically to monitor chemotherapy response. Seventeen uneventful postmole uteri were used as controls. Two-tailed Student's t-test and Fisher's exact test were used for statistical analysis. RESULTS: The gestational trophoblastic tumors were categorized as diffuse type (N = 7), lacunar type (N = 16), and compact type (n = 5) according to their vascular patterns. The mean serum beta-hCG level at diagnosis in diffuse type lesions (6608 +/- 6320 mIU/mL) was significantly lower than in the lacunar type (40462 +/- 39735 mIU/mL; P = 0.04) and compact type (212114 +/- 205126 mIU/mL; P = 0.02), whereas the level in compact type lesions was significantly higher than in the lacunar type (P = 0.003). Lacunar type lesions exhibited a significantly lower uterine artery resistance index (0.51 +/- 0.13) than diffuse type (0.66 +/- 0.10; P = 0.03) or compact type lesions (0.70 +/- 0.06; P = 0.02). All lesions exhibited significantly higher peak systolic velocity than control subjects (P < 0.001); however, no significant difference was observed among them. Brief courses (< 5 cycles) of chemotherapy cured more diffuse type (6 of 7) than lacunar type (3 of 15, P = 0.006) or compact type lesions (0 of 5, P = 0.008). Histopathologic diagnosis was available for 11 lesions. They were invasive mole in seven lacunar type lesions and choriocarcinoma in four compact type lesions. CONCLUSION: Vascular morphologic patterns of gestational trophoblastic tumors by color Doppler ultrasound correlated well with beta-hCG levels, uterine hemodynamics, chemotherapy response, and possibly the histopathologic diagnosis.     

Metabolic and immune parameters at clinical onset of insulin-dependent diabetes: a population-based study. IMDIAB Study Group. Immunotherapy Diabetes

The age at diagnosis of insulin-dependent diabetes mellitus (type I DM) varies between childhood and adulthood. The aim of this study was to define the immunologic and metabolic characteristics of the disease according to the age at which it is diagnosed. We evaluated the residual beta-cell function (basal and stimulated C-peptide) and frequency of two major islet cell-related autoantibodies, glutamic acid decarboxylase (GAD) and tyrosine phosphatase-like molecule (IA-2ic), at the onset of type I DM. A population-based study was performed with 235 consecutive cases of recent-onset (<4 weeks) type I DM (ages 5 to 45 years) diagnosed in the Lazio region of central Italy. Five age groups were considered: patients diagnosed between ages 5 and 7 years (n = 10), 7 and 10 years (n = 38), 10 and 17 years (n = 94), 17 and 20 years (n = 17), and 20 and 45 years (n = 76). Patients diagnosed before puberty had significantly reduced C-peptide secretion compared with patients diagnosed at a later age (P < .02). Glycosylated hemoglobin (HbA1c) did not differ at diagnosis between the different age groups. Patients diagnosed at puberty or after required significantly less insulin compared with younger patients (P < .04). GAD antibodies were found in 65% and IA-2ic antibodies in 59% of patients. GAD antibodies tended to be more frequent in patients diagnosed after age 17 compared with younger patients (P = .05), while IA-2ic antibodies were not age-related. These data suggest that (1) the extent of beta-cell damage differs between patients diagnosed before and after puberty, the process being more destructive in children less than 7 years of age, when C-peptide levels are the lowest; and (2) residual beta-cell function at diagnosis is not influenced by the presence or absence of islet cell-related antibodies. These findings have implications for trials in type I DM diagnosis aimed at protecting beta cells from end-stage destruction and in attempts to prevent the disease in susceptible individuals.     

Nonsecretory immunoglobulin-derived amyloidosis of the heart: diagnosis by immunohistochemistry of the endomyocardium

Primary amyloid light chain (AL) amyloidosis of the heart is a rare cause of congestive heart failure. Approximately 15% of patients with primary AL amyloidosis demonstrate no monoclonal proteins on serum or urine immunoelectrophoresis:(so-called nonsecretory immunoglobulin-derived amyloidosis). The histologic findings of endomyocardial biopsy from these patients may be indistinguishable from those with senile cardiac amyloidosis. However, the AL type may respond favourably to chemotherapy while the latter type does not. The prognosis is also better in the senile cardiac amyloid type. The precise diagnosis in the present case was made by applying immunohistochemical techniques on cardiac tissues.     

Modulation of bilayer fluidity by lipid peroxidation of human placental syncytiotrophoblast membranes during embryogenesis

BACKGROUND: Hand eczema (HE) is a chronic multifactorial dermatosis with the presence of endogenous and exogenous factors in its pathogenesis. The etiologic diagnosis of hand eczema is often difficult. OBJECTIVES: The objectives of this study were (1) to detect clinical history and clinical examination data capable of differentiating HE types; (2) to determine the importance of patch tests for the etiologic diagnosis of HE; and (3) on the basis of the definitive diagnosis of HE type with the aid of patch tests, to obtain relevant data for appropriate patient guidance for the control of HE. METHODS: A total of 250 patients with HE were studied over a period of 3 years (1993 to 1995). All patients were submitted to the battery of patch tests. RESULTS AND CONCLUSIONS: The results obtained led to the following conclusions: (1) Women are more predisposed to HE. (2) Work under moist conditions favors HE. (3) With respect to the regional location of HE, any region may be involved in any type of HE; however, involvement of the dorsal region is more common in allergic contact dermatitis (ACD), followed by contact dermatitis owing to primary irritation (ICD) and atopic dermatitis (AD). Location of HE on the dorsal surface of the fingers was mainly observed in ACD, followed by ICD and AD. (4) Patch tests should be part of the investigative routine of HE etiology. (5) The presence of allergy to metals in the clinical history of the patient is a relevant feature, because patch tests confirmed sensitization to nickel in 89% of cases. (6) Rubber components have high sensitization frequency in patients with HE. (7) When the patient reports worsening of HE after the use of rubber gloves, this indicates a probable sensitization to rubber components, mainly in patients with AD.     

Management of malignant esophagorespiratory fistula

For patients with malignant esophagorespiratory fistula, four important points need to be stressed: (1) once the diagnosis is made, treatment should be instituted immediately; (2) all treatment is palliative and directed at stopping soilage of the respiratory tract; (3) the type of therapy is dictated by the performance status of the patient at presentation; and (4) esophageal bypass offers the best palliation for those able to tolerate the procedure.     

Blood transfusion as a risk factor for non-Hodgkin lymphoma

In a case-control study of 280 out of 426 consecutive patients with a recent diagnosis of non-Hodgkin lymphoma (NHL) and 1827 control subjects, 53 (19%) and 230 (13%) respectively had received blood transfusions 1 year or more before the interview. Using an age- and sex-stratified analysis the odds ratio (OR) for transfusion was 1.74 (95% CI 1.24-2.44). ORs were also determined for transfusions received in the intervals 1-5, 6-15, 16-25 and > or = 26 years before diagnosis. In the interval 6-15 years, the OR for transfusion was 2.83 (95% CI 1.60-4.99) whereas ORs for transfusions received in other intervals were lower and not significantly elevated. Histological diagnoses (Kiel classification) and results of staging procedures were known for 185 patients. For low-grade NHL of nodal B-cell chronic lymphocytic leukaemia (B-CLL) or immunocytoma type, the OR for transfusions was 4.15 (95% CI 1.92-9.01). For low-grade nodal lymphomas of follicle centre cell type and high-grade nodal lymphomas, no relation to transfusions could be demonstrated. For high-grade extranodal lymphoma as sole manifestation, OR for transfusions was 3.27 (95% CI 1.30-8.24). It is concluded that blood transfusion may be a risk factor for NHLs especially those of B-CLL or immunocytoma type and for high-grade extranodal lymphoma.     

Congenital thymic cyst: prenatal sonographic and postnatal magnetic resonance findings

The link between human Papillomavirus (HPV) and cervical carcinomas has become increasingly convincing recently, and the detection of infection with certain HPV types may become an important element in screening for cervical pre-cancer. We applied the polymerase chain reaction (PCR) technique to detect and type HPV-DNA in biopsies from the uterine cervix with a histological diagnosis of CIN and condylomatosis. Forty-eight consecutive cervical biopsies were analysed for HPV-DNA by PCR, using two different sets of consensus-primers. Typing was performed with HPV type-specific primers. Histological reevaluation revealed that 42 biopsies (87%) had condylomatous features. HPV was demonstrated in 46/48 (95.8%). HPV type 6/11 was found in seven biopsies, while HPV 16 was present in 23 samples, including two cases of double-infection. HPV type 18 was not found at all, and in 19 cases the HPV type present could not be determined. Apparently, HPV-DNA was absent in two cases. The results indicate that HPV-DNA screening is a valuable supplement to histopathological screening for cervical neoplasia. The value of different primer pairs is discussed.     

The large window ductus: a surgical trap

A rare window type of patent ductus arteriosus is reported that was large (15 mm in maximal transverse dimension) but had virtually no length and hence was externally invisible. The smaller aortic isthmus (4 mm in diameter), which was intrapericardial, was mistaken for the ductus and was inadvertently clip-occluded, leading to death. After a specific diagnosis is made, the large window ductus should be patched on cardiopulmonary bypass with a transpulmonary approach.     

Management of facial fractures

A new analytical procedure for determining the fraction composition (FC) of lipoproteins (LP) is developed on the basis of the physical method small-angle X-ray scattering (SAXS). This method quantitatively determines the levels of the basic fractions of LP and their subfractions in plasma or serum to analyze LP FC and to diagnose lipid metabolic disturbances. The results obtained by this procedure were compared with those of gel-electrophoresis, biochemistry, and medical diagnosis. There was a good agreement of SAXS and routine methods. The new procedure shows extremely rapid (1.0-1.5 hr) analysis, uses a single reagent (such as the saccharose type), has a high accuracy, and resolution. The analysis requires as high as 0.05 ml of plasma or serum. LP FC may be analyzed both in protein-free and whole native plasma and sera. The findings may be used in clinical care for diagnosis of dyslipidemias and for researches.     

The cost of cancer home care to families

BACKGROUND: For the most part, previous research on costs of cancer care has focused on the formal medical care costs. Research on home care for patients with cancer has emphasized direct care costs (expenditures). Among indirect costs, only loss of income to family members has been studied. However, a major component of indirect costs, the family labor expended to care for the patient with cancer, needs to be included for a more realistic appreciation of home care costs. METHODS: The costs of family labor are estimated by imputing monetary values for the time spent caring for the patient with cancer. The assigned monetary cost either is equated with income losses of the helper in question or is based on a putative market value of the expended labor time. In addition, out-of-pocket expenditures examined in this study cover all cancer care-related expenses for which the patient was not reimbursed by third parties. Data were obtained from a convenience sample of 192 patients with cancer and their families in lower Michigan. RESULTS: When family labor is included in the cost calculations, average cancer home care costs for a 3-month period ($4563) are not much lower than the costs of nursing home care. The substantial variation in home care costs (standard deviation [SD] = $4313) appears to be unrelated to the type of cancer diagnosis, type of treatment, or time since diagnosis but seems to be driven by the functional status of the patient and the family living arrangements. CONCLUSIONS: Outpatient care for patients with cancer coupled with greater reliance on home care appear to be economically attractive because costs to families usually are underestimated.     

Modern diagnosis and classification of diabetes mellitus

In July 1997, the American Diabetes Association (ADA) has published new recommendations for the diagnosis and classification of diabetes mellitus. Except for gestational diabetes they should be identical to the new WHO recommendations (not yet published). From now on, only the fasting glucose should be used for clinical routine. The oral glucose tolerance test is no longer recommended for this purpose. The diagnostic cut-off level for fasting glucose was decreased from 140 mg/100 ml (venous plasma) to 126 mg/dl, and the range between 110 and 125 mg/100 ml was defined as impaired fasting glucose (IFG), a new diagnostic category introduced in analogy to impaired glucose tolerance (IGT). The lower diagnostic cut-off level for fasting glucose has been proposed because the risk of developing diabetic late complications (predominantly at the vascular system) is already increased in blood glucose ranges thought to be normal. The diagnostic criteria for gestational diabetes are unchanged and still discrepant between ADA and WHO. The two major forms of diabetes should be designated only as type 1- and type 2-diabetes with respect to etiology and pathogenesis. Type 1-diabetes was subdivided into an immune-mediated and into an idiopathic form. MODY (maturity-onset type diabetes in young people) was listed separately from type 2-diabetes under the category of genetic defects of beta-cell function, also mitochondrial diabetes (maternally inherited diabetes and deafness). Malnutrition-related diabetes has been omitted as a major form of diabetes.