Constitutional Anomaly Research Articles

Quelles sont les pratiques en génétique des pédiatres onco-hématologues de la SFCE ? Une enquête du groupe socle éthique CONECT-AML

Somatic genetic tests carried out by new high-throughput sequencing techniques (NGS) are now integrated into the care of children with cancer and leukemia. They can reveal constitutional abnormalities. We questioned the practices of pediatricians in carrying out genetic tests. Survey was carried out among pediatric onco-hematologists and residents who have completed a pediatric hematology-oncology internship. Pediatricians mainly prescribe somatic genetic analyses. They are aware that they can reveal constitutional anomalies and inform the parents. Practices in terms of consent to genetics are heterogeneous. The regulatory aspects are poorly known. The child is still little considered in decisions, including when he reaches majority. Parents are informed of the existence of genetic information consultations mainly in the event of suspicion of a constitutional anomaly. Pediatricians, like residents, consider their knowledge of genetics insufficient. Despite this, they feel more comfortable communicating with families while residents say they are uncomfortable conducting a genetic interview. Extensive use of NGS for diagnosis confronts pediatricians with ethical questions about information, consent and the return of results. The support of the child must be taken more into account. Ways are mentioned for a better appropriation of the difficulties, while respecting the regulatory framework. The place of the pediatrician and that of the geneticist would aim to be clarified. Specific training, from the internship, would improve support for families and patients.

Popular Sovereignty After Brexit

AbstractThe Brexit referendum highlights the apparently anomalous role of the “people” in the constitutional order of the United Kingdom. Politically speaking, its verdict is acknowledged as unassailable and unaccountable, yet this “sovereign” status has no legal grounds. In turn, some commentators have argued that this discrepancy between “political” and “legal” understandings of popular sovereignty—or the failure to properly institutionalize popular sovereignty in a legal-constitutional form—represents a distinct site of constitutional crisis in its own right. However, I argue that such claims of constitutional anomaly, or of British exceptionalism in this regard, are misplaced. While the Brexit scenario seems to express the destabilizing and disruptive potential of a popular sovereign that exceeds or evades constitutional recognition, this is in no sense a peculiarity of the British constitutional order. By its nature, popular sovereignty is inexhaustible by constitutional recognition, and so it tends to retain such disruptive potential regardless of whatever constitutional form it is assigned. Thus, critics of the British constitutional status quo overestimate the capacity of constitutional law in general to regulate or domesticate the expression of popular sovereignty via referendums.

Falling Foul of Section 44(i): Australian's Dual Citizenship Saga and the Problems of Institutional Inertia and “Drift”

Australia's “dual citizenship” crisis erupted in 2017 when several elected members of the federal parliament discovered that they were ineligible to sit because their dual citizenship status meant that they were in breach of s 44 (i) of the Australian constitution. The controversy has had enormous political consequences, prematurely ending several political careers and confirming that millions of Australians are ineligible to sit in the federal parliament because they hold dual citizenship. It has raised important questions about the contemporary relevance of s 44 (i) for multicultural, trans‐national Australia, given its association with singular, racialized (British‐colonial) notions of identity, allegiance and belonging. Using a historical institutionalist approach, and associated concepts of policy “drift”, I demonstrate the inevitability of the recent controversy, given decades of government inertia and both unintentional and purposeful non‐decision‐making on s 44, despite repeated expert warnings about its risks. I reflect upon the possible interests and ideological biases that have compelled political leaders’ resistance to proposals to decisively fix the constitutional anomaly by holding a popular referendum. I argue these failures have left Australia vulnerable to ongoing political instability and raise considerable concerns about its democratic quality.

"Status Thymolymphaticus" - a Risk of Anaesthesia?

The administration of narcotics such as ether and chloroform to combat pain during surgery was overshadowed from the beginning by serious, often fatal incidents. Even the use of local anaesthetics, which were praised as being less dangerous, was not as uncomplicated as had initially been hoped for and was often fatal. Investigations into the various causes of anaesthetic incidents were carried out at an early stage, but usually did not lead to clear results. In these cases, the physicians involved in the administration of narcotics adopted the explanation attempts of the Austrian physicians Arnold Paltauf and Rudolf Ritter von Kundrat, who at the end of the 1880s also explained inexplicable narcosis incidents in apparently healthy individuals with the presence of a constitutional anomaly: the so-called "status thymicus, lymphaticus or thymolymphaticus". If, in case of a fatal anaesthetic incident, the event was attributed to the presence of this anomaly, one also spoke of "thymus death" and usually refrained from further legal investigations. Corresponding statements therefore acquired a great forensic significance, since now also in cases of a "mors subita" in infants or small children in the domestic sphere unjustly accused persons in the presence of a verifiable thymus hyperplasia did not have to be prosecuted further under criminal law. In operative medicine, the "status thymolymphaticus" has become a topic for decades, especially among the persons performing the anaesthesia, so that a historical review of the feared alleged syndrome appears justified.

Postaddictive Hypochondria. Clinical Cases (Message 2)

Objective : to study the phenomenology of postaddictive hypochondria on new clinical cases. Material and methods . 4 patients of the Borderline Personality Disorders Ward suffering from lingering non-delusional hypochondria were included into the study. The methods of the study - psychosomatic, anamnestic, dynamic. Results . The study has found the leading link of the constitutional anomaly in the form of somatonia as a disturbance of drives with the subsequent formation of postaddictive hypochondria in association with the accentuations of psychotypes. Conclusion. The study has proved that postaddictive hypochondria is on the register of personal psychopathologies.

Coming in from the cold: bringing the Intelligence and Security Committee into Parliament

ABSTRACTThe establishment of the Intelligence and Security Committee (ISC) in 1994 for the first time allowed British parliamentarians access to intelligence agency staff and records. However, as a committee of parliamentarians, but not a parliamentary committee, the ISC was a constitutional anomaly. In 2013, significant reforms reconstituted the ISC as a parliamentary committee, with enhanced powers and an expanded mandate. Drawing on interviews with ISC members and detailed examination of committee business, this article examines the impact of recent reforms. It argues that while reform has had a significant impact on the committee, in a number of respects it remains strongly constrained by government.

Answering the West Lothian Question? A Critical Assessment of ‘English Votes for English Laws’ in the UK Parliament

In 2015, the UK House of Commons adopted new procedures known as ‘English Votes for English Laws’ (EVEL). This article evaluates whether EVEL has succeeded in answering the West Lothian Question, a constitutional anomaly arising from the asymmetrical character of governance in the UK. After outlining the historical background against which EVEL emerged as a supposed solution to this iconic question, the article explains how the 2015 reform works, and proceeds to assess its operation during the 2015–2017 parliament. It concludes that these new procedures appear to have overcome the main practical and constitutional obstacles associated with this type of reform, but they have, so far, failed to provide meaningful English representation at Westminster—particularly in relation to supplying England, and its MPs, with an enhanced ‘voice’.

CHRONIC MYELOID LEUKEMIA IN PATIENT WITH THE KLINEFELTER SYNDROME

Genetic inborn along with acquired diseases arise due to the lesions in genome of multipotent hematopoietic stem cells. The aim was to study an influence of constitutional anomaly, Klinefelter syndrome, and additional structural rearrangements on the BCR-ABL tyrosine kinase inhibitor targeted therapy efficacy. We describe a 32-year-old male patient with chronic myeloid leukemia (CML) who was detected to have sex chromosomal abnormality during evaluation for Philadelphia chromosome. At diagnosis of CML, two clones were detected by standard cytogenetic investigation of bone marrow cells: 1) clone with translocation t(9;22)(q34;q11), with two sex X chromosomes and absence sex chromosome Y; 2) clone with t(9;22) and unbalanced t(Y;20)(q11;q13). Analysis of blast transformed lymphocytes from peripheral blood showed karyotype 47,XXY. Monitoring of targeted therapy with second generation inhibitor of BCR-ABL tyrosine kinase indicated a cytogenetic remission and absence of BCR-ABL1 fusion signals after 11 months. Absence of translocation t(9;22)(q34;q11) in blast transformed T-lymphocytes at diagnosis of CML evidences that this translocation may appear not only at the level of multipotent haemopoietic cell progenitors but also may have oligo lineage myeloid origin. Presence of additional structural chromosomal abnormality in the clone with t(9;22)(q34;q11) does not affect the efficacy of therapy with the use of second generation BCR-ABL tyrosine kinase inhibitor.

Kallmann syndrome associated to empty sella. Case report and literature review

(KS) defined by the association of isolated hypogonadotropic hypogonadism (IHH) and hyposmia or anosmia. Primary empty sella results from congenital incompetence of the sellar diaphragm and is not a classic finding regarding IHH. To our knowledge, a similar association has been reported only in 4 occasions. A 28-year old male presenting pubertal development fault and anosmia, the third in family of five children from a consanguineous marriage, had a strabismus history of the left eye operated at the age of 11, no hearing complaints and no familial history of hypogonadism or olfactory impairment. He had BMI: 30, pubic hair was at stage 2 (P2), absence of axillary chest and facial hair, bilateral gynecomastia S3, bilateral cryptorchidism and micro penis. Anosmia and the laboratory tests confirmed hypogonadotropic hypogonadism. Hypothalamic-pituitary MRI; empty sella with hernia intra cerebrospinal fluid. Olfactory bulbs MRI however, returned without abnormalities. The pelvic region MRI: 2 testicles with reduced size situated in the middle third of inguinal canal and a left varicocele grade III, small prostate visualized. Excavation and c/d was symmetrical in the 2 eyes which have a congenital origin. KS was the most likely diagnosis; the patient was put under testosterone injection and sent to urology surgeon, the subsequent evolution marked by significant clinical response after 6 months of androgen therapy. A possible constitutional anomaly of the sellar diaphragm may be involved in the occurrence of the empty sella turcica observed in these patients. Even considering that primary empty sella usually occurs with normal pituitary function, its detection is important to allow an adequate evaluation and follow-up.

Reformation of the Duchy of Lancaster in Shakespeare’s Henriad

This essay surveys the Duchy of Lancaster in Shakespeare’s Henriad. The Duchy territories, as a “constitutional anomaly” and the English kings’ private possession inherited through their “body natural,” enjoyed politico-juridical immunity. In Shakespeare’s history translation, like the English monarchs’ split selves—at once the English Crown and the Duke of Lancaster—Shakespeare breaks the political import of the Duchy territories into two. In the process, the grim aspects of the Lancastrians such as usurpation, treachery, and lawlessness are assigned to others in the provincial margins, whereas the proud national history of the Lancastrians is translated into the timeless figura of all subsequent English monarchs including the Tudors.

Are Unions a Constitutional Anomaly?

The Supreme Court’s decision last term in Harris v. Quinn is its latest, and surely not its last, of dozens of encounters since the 1940s with the issue of mandatory union fees – fees that individuals may be required to pay as a condition of employment to the union that represents them in collective bargaining. Along the way to striking down the “agency fee” in Harris on First Amendment grounds, the Court proclaimed the current agency fee regime, blessed many times by the Court itself, to be an “anomaly.” This Article asks whether and how labor unions are themselves “anomalies” in our legal system, particularly in their constitutional entitlements. Its answer is a qualified and complicated “yes.” A solution to the agency fee problem, and to other constitutional puzzles in labor law, lies in a deeper understanding of how and why unions are distinctive in our legal system – distinctive even among private entities with public regulatory functions, which have frequently provoked constitutional controversy. To begin with, unions are voluntary associations of workers with constitutional entitlements to freedom of expression and associational autonomy. On the other hand, unions are also regulatory actors subject to a constellation of sui generis rights, powers, restrictions, and duties under U.S. labor law – a quid pro quo by which the labor laws both constrain and empower unions. Whatever the wisdom of the particular quid pro quo embodied in the labor laws – and it has been criticized from both ends of the political spectrum – it provides an essential context for the adjudication of constitutional claims by and against unions. This Article calls for reframing those constitutional claims to include both the quid and the quo of labor law – not only the alleged burdens that the labor laws impose on unions or individuals, but also any logically linked benefits or powers it confers on the claimant. The proposed analysis recasts not only the agency fee controversy and the related puzzle posed by state right-to-work laws, but also recurring challenges to the constitutionality of restrictions on union speech and recent efforts to bring “worker centers” under the umbrella of labor law. At the same time it offers clues to the future of unions and labor law if the Court continues down the path foreshadowed in Harris.

Are Unions a Constitutional Anomaly?

This term in Friedrichs v. California Teachers Ass’n, the Supreme Court will consider whether ordinary public employees may constitutionally be required to pay an “agency fee,” as a condition of employment, to the union that represents them in collective bargaining. The Court established the terms of engagement in the 2014 decision Harris v. Quinn, which struck down an agency fee on narrower grounds while describing the current doctrine approving agency fees, blessed many times by the Court itself, as an “anomaly.” This Article asks whether labor unions are themselves anomalies in our legal system, particularly in their constitutional entitlements. Its answer is a qualified and complicated “yes.” Unions are indeed distinct in our legal system—distinct even among private entities with public regulatory functions, which have frequently provoked constitutional controversy. On the one hand, unions are voluntary associations of workers with constitutional entitlements to freedom of expression and associational autonomy. On the other hand, unions are both regulated and regulatory actors within a statutory scheme that sets them far apart from other voluntary associations. They are subject to a sui generis constellation of rights, powers, restrictions, and duties—a quid pro quo that both constrains and empowers unions, and that is embodied in the paradigmatic case that is the central focus here, in the National Labor Relations Act, the Taft-Hartley Act, and the Landrum-Griffin Act. Whatever the wisdom of that quid pro quo— and it has been criticized from both ends of the political spectrum—it provides an essential context for adjudicating constitutional claims by and against unions. This Article calls for reframing those constitutional claims to include both the quid and the quo of labor law—not only the alleged burdens that the labor laws impose on unions or individuals, but also any logically linked benefits or powers it confers on the claimant. If the alleged burden is logically linked to some corresponding benefit or power, the latter may offset or justify the former, and lower the level of constitutional scrutiny required. Rigorous attention to both the additions to and subtractions from unions’ entitlements under the labor laws, along with a cautious approach to the threshold question of state action, is necessary to preserve the residual yet fundamental autonomy interests of unions. The proposed analysis recasts not only the agency fee controversy and the related puzzle posed by state “right-to-work” laws, but also recurring challenges to the constitutionality of restrictions on union expression and recent efforts to bring “worker centers” under the umbrella of labor law. At the same time, it offers clues to the future of unions and labor law if the Court continues down the path foreshadowed in Harris.

La pro-naso-ethmoïdo-maxillie (PNEM) : une dysmorphose spécifique

Naso-ethmoido-maxillary protrusion (NEMP) is a rare dental and facial dysmorphosis, with excessive growth of basicranium, ethmoid, maxillary, and nasal bones. The clinical presentation includes nasal and upper lip protrusion, telecanthus, a class 2 malocclusion with maxillary protrusion and exoclusion. The craniofacial field is increased in Delaire's analysis. Contrary to isolated maxillary protrusion secondary to membranous ossification dysfunction, NEMP is a constitutional anomaly resulting from an excessive primary growth of the chondrocranium. The therapeutic management of NEMP should take into account these specificities.

'New Mechanisms of Independent Accountability': Select Committees and Parliamentary Scrutiny of the Intelligence Services

Oversight of intelligence and security agencies has become of significant interest in recent years. In the UK the principal mechanism for providing parliamentary oversight of the agencies is the Intelligence and Security Committee (ISC). However, until 2013 the ISC was a constitutional anomaly: as a statutory committee appointed by the Prime Minister it was a committee of parliamentarians, but not a committee of Parliament. In recent years a number of parliamentary select committees have undertaken inquiries involving scrutiny of the work of the intelligence agencies and the government's use of intelligence. Some select committees have also argued that Parliament should play a greater role in the scrutiny of intelligence. In 2011 the ISC proposed that it should become a committee of Parliament, an idea taken up in the Justice and Security green paper and which became reality in 2013. This article examines the role of select committees in scrutinising intelligence issues and the potential impact of the change in status of the ISC.

¿Cómo fortalecer el Poder Legislativo federal en México? El caso de la reelección inmediata de los miembros del Congreso

Hoy en día el tema de la reelección legislativa inmediata es una de las asignaturas pendientes y largamente postergadas en la agenda del Poder Legislativo federal mexicano, dicha reforma que forma parte de la también largamente esperada reforma del Estado es de vital importancia si de verdad queremos contar con legisladores profesionales, expertos y responsables ante los ciudadanos. Así pues, el presente trabajo se estructura en seis pequeños apartados en los cuales se hace un breve recuento histórico de las principales causas que motivaron esta, sin duda grave, anomalía constitucional, así como las consecuencias que la implementación de la misma ha traído al interior del Poder Legislativo en México y al Estado en su conjunto

The Way Forward: Aplastic Anemia and Hematopoietic Stem Cell Transplantation in the Pediatric Patient

Acquired aplastic anaemia (AA) in childhood is an uncommon but serious disorder, characterized by pancytopenia as a result of marrow hypocellularity and the absence of a predisposing constitutional anomaly. In the last two decades, the survival of these patients has increased dramatically with the use of immunosupressive agents and hematopoetic stem cell transplantation (HSCT). In the pediatric age group, the data comparing the outcomes of HSCT and immunosuppressive therapy in acquired AA have shown better survival rates with HSCT [1,2]. However, comparable survival rates between HSCT and immunosuppressive therapy have also been described [3,4]. In recent studies, survival rates approaching 90% have been reported with HSCT [5,6]. Immunosuppressive agents used in the treatment of AA exert their action through reduction of the suppression of hematopoesis by autoreactive immune cells. However, up to 30% of patients with acquired AA do not have detectable evidence of an immune etiology [7], and this may suggest alternative pathophysiological mechanisms, including telomeric shortening, and may explain the unresponsiveness of some AA patients to immunosuppressive therapy. A high frequency of paroxysmal nocturnal hemoglobinuria clones may also contribute to the unresponsiveness to immunosuppressive therapy. The treatment of choice for patients with a human leukocyte antigen (HLA) matched sibling is HSCT, whereas immunosuppressive treatment constitutes an alternative first-line treatment option in patients without a matched related donor. Improvement in conditioning and graft-versushost disease (GvHD) prophylaxis regimens and intensified supportive care contribute to achievement of better survival rates in HSCT patients. In a recent retrospective study of 37 patients with AA who received matched sibling donor HSCT, a 10-year, failure-free survival rate of 97% was reported [6]. In a report from our center regarding

Time- and Dose-Response Relationships of Imatinib Mesylate (Glivec) Therapy for Chronic Hypereosinophilic Syndromes.

HES (hypereosinophilic syndrome with organ damage), CEL (chronic eosinophilic leukemia with chromosome marker and/or myeloproliferation/dysplasia) and CIH (chronic idiopathic hypereosinophilia) are diseases that pose a therapeutic challenge and are potentially Glivec-sensitive. This drug inhibits BCR-ABL type tyrosine kinase (TK) as well as Platelet-Derived-Growth-Factor Alpha and Beta (FIP1L1-PDGFRA and ETV6-PDGFRB, detectable in HES and allied conditions) and c-kit related TKs.A study was planned to assess 1) the response to escalating doses of Glivec (starting dose 100 mg/d, maximum 400 mg/d, weekly increment 100 mg/d as necessary) and 2) the diagnostic profile of Glivec-responsive cases. Eligible patients had BCR-ABL- HES, CEL, or CIH with eosinophilia >5x10e9/l. Diagnostic work-up included marrow morphology and cytogenetics, PDGFRA/B rearrangement study, and immunophenotype for the detection of expanded (Vbeta) T-cell clones (TCC). Glivec was kindly provided by Novartis Oncology, Italy, to be administered for 12 consecutive weeks. A complete remission (CR) was defined by an eosinophil count <0.35x10e9/l with disappearance of clinical signs/symptoms.Starting 11/'04, 18 patients were identified (14 M), aged 26–80 years (median 54), with a disease history of 0.2–12 years (median 3.4). Blood eosinophilia was 0.67–17.5x10e9/l (median 2.1), with diagnosis of HES (n= 8), CEL (n= 6) or CIH (n= 4). Cytogenetics was abnormal in 5/14 (36%): 1 t(4;8), 1 der(5) t(1;5)(q25;q34) del(5)(q?), 1 del(5)(q32) i(17), and 2 -Y as possible constitutional anomaly; a TCC was detected in 3/9 (33%); FIP1L1-PDFGRA and ETV6-PDGFRA rearrangements were found in 4/17 (24%) and 0/9 (0%), respectively. As of 07/'05, 16 cases are evaluable (2/4 PDGFRA+), 8 having completed the study. Four patients were withdrawn very early because nonresponders at increased dosage (n=3) or noncompliant (n=1), and 4 are still on study. A CR was documented in 6/8 who completed the trial, 3 with CEL and t(4;8) or an involved chromosome 5, 2 with PDGFRA+ HES, and 1 with PDGFRA-/B- HES. No patient with TCC responded. As concerns dose-/time-response relationships, 4 cases were fully responsive to 100 mg/d through the 12 weeks of the study, and 2 required 200 mg/d from the 6th and 11th week, respectively (cases with longer HES history: 12 and 11 years; one with prior blastic transformation), whereas eosinophil blood counts (x10e9/l) varied as follows from baseline to 1st and 4th weeks: 1.95 (0.88–17.5) to 0.20 (0.02–2.09) to 0.15 (0.00–0.4). However, both PDGFRA+ cases remained molecularly positive, while the single evaluable patient achieved only a transient cytogenetic remission. Time to progression (>0.35) was short following drug withdrawal (5 patients: 1, 1, 3, 3, 3 months). Glivec is highly active in hypereosinophilic syndromes with PDGFR rearrangements and other gene lesions that need to be properly identified. These cases respond very early even at the lower dosage. However, an early stopping of therapy can be followed by rapid progression as indicated also by the persistence of cytogenetic/molecular lesions in some cases. This dictates a continuing molecular/cytogenetic monitoring for dose titration like in chronic myelogenous leukemia.

Foreign in a Domestic Sense: Puerto Rico, American Expansion, and the Constitution

This important and thoughtful book, the product of a 1998 symposium at Yale University, presents nineteen essays on an American constitutional anomaly. The Caribbean island Puerto Rico, annexed by the United States a little over a century ago, has not followed the usual path to statehood spelled out in Article I V, Section 3, of the Constitution but has remained an “Associated Free State” with second-class citizenship for more than fifty years. All of the essayists, half of them from Puerto Rico and half of them from the mainland, agree that this “separate and unequal” treatment of American citizens is a disgraceful survival of turn-of-the-century racial and cultural prejudice, preserved into a new millennium, and that reform is long overdue. Many of the essays remind us of the taken-for-granted imperialist attitudes of the 1890s, the era of the Chinese Exclusion Act, Negro disenfranchisement and lynching, and the “White Man's Burden.” They quote casual and studied remarks about “half-monkey savages,” “mongrels,” and “people with black skin, closely curling hair, flat noses, thick lips, and large clumsy feet.” The racist rantings of Gen. Arthur MacArthur about the “great civilization [of ] our Aryan ancestors,” as he brutally suppressed the Philippine insurrection, might have come straight from the pages of Adolf Hilter's Mein Kampf (1925–1927). All of the authors agree with the Puerto Rican law professor Roberto Aponte that “the time has come for the United States to decide what type of relationship, if any, it finally envisions with Puerto Rico.”

Irregular distortion of the erythrocytes (acanthocytes, spur cells) in senile dementia.

An excess of irregularly distorted red cells with spiked forms (acanthocytes, spur cells) has been found in a substantial minority of patients with senile dementia of Alzheimer type (7 of 50 patients, 3 of 21 men and 4 of 29 women). Of 100 control patients, 42 men and 58 women), 5 (3 men and 2 women) showed comparable distortion, but, of these, one man may well have incipient dementia and the others had serious organic diseases which may be associated with comparable erythrocytic changes. The cause of the distortion is not yet clear, but the presence of occasional giant erythrocytes in the absence of general macrocytosis suggests a possible abnormality of cell-membrane synthesis. This distortion may be a useful marker in patients with loss of memory. Whether it is a manifestation of a haemopoietic clone or a constitutional anomaly associated with Alzheimer's disease remains to be seen.

Telomere association of chromosomes induced by aphidicolin in a normal individual

Telomere association of chromosomes of a phenotypically and mentally normal individual was detected in 11.7% of metaphases cultured in RPMI-1640 with aphidicolin. No preferential involvement of any chromosome pair was detected. In two other individuals the frequency of telomere associations was much lower (1.9% and 0.7% respectively) under the same culture conditions. In the first individual the high number of telomere associations in cultures with aphidicolin along with the presence of telomere association (2.4%) in cultures with F.10 medium alone could reflect a constitutional telomere anomaly that is more often expressed in the presence of aphidicolin.